UniProtKB - Q13285 (STF1_HUMAN)
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- BLAST>sp|Q13285|STF1_HUMAN Steroidogenic factor 1 OS=Homo sapiens OX=9606 GN=NR5A1 PE=1 SV=2 MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKT QRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKL ETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPL AGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLA LQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT
- Align
Steroidogenic factor 1
NR5A1
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
3 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.13"Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and c-Jun phosphorylation."
Lan H.-C., Li H.-J., Lin G., Lai P.-Y., Chung B.-C.
Mol. Cell. Biol. 27:2027-2036(2007) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH HIPK3. - Ref.30"A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development."
Members of UDN
Bashamboo A., Donohoue P.A., Vilain E., Rojo S., Calvel P., Seneviratne S.N., Buonocore F., Barseghyan H., Bingham N., Rosenfeld J.A., Mulukutla S.N., Jain M., Burrage L., Dhar S., Balasubramanyam A., Lee B., Dumargne M.C., Eozenou C. , Suntharalingham J.P., de Silva K., Lin L., Bignon-Topalovic J., Poulat F., Lagos C.F., McElreavey K., Achermann J.C.
Hum. Mol. Genet. 25:3446-3453(2016) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN SRXX4, INVOLVEMENT IN SRXY3, VARIANT SRXX4 TRP-92, VARIANT SRXY3 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, FUNCTION. - Ref.32"New NR5A1 mutations and phenotypic variations of gonadal dysgenesis."
Werner R., Moenig I., Luenstedt R., Wuensch L., Thorns C., Reiz B., Krause A., Schwab K.O., Binder G., Holterhus P.M., Hiort O.
PLoS ONE 12:E0176720-E0176720(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SRXY3 18-ASP--GLY-22 DEL AND PRO-40, CHARACTERIZATION OF VARIANTS SRXY3 18-ASP--GLY-22 DEL AND PRO-40, FUNCTION.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 341 | Lipid headgroup; via amide nitrogen | 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 436 | Lipid headgroup | 1 | |
| <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 440 | Lipid headgroup | 1 |
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi | 10 – 85 | Nuclear receptorPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 76 | |
| <p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 13 – 33 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 21 | |
| <p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 49 – 73 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 25 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- chromatin binding Source: BHF-UCL
- DNA binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- enzyme binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- nuclear receptor activity Source: ParkinsonsUK-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- phospholipid binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
- RNA polymerase II regulatory region sequence-specific DNA binding Source: ParkinsonsUK-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- steroid hormone receptor activity Source: InterPro
- transcription coactivator activity Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- zinc ion binding Source: InterPro
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- adrenal gland development Source: Ensembl
- calcineurin-mediated signaling Source: Ensembl
- cell-cell signaling Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- cell differentiation Source: Ensembl
- female gonad development Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- hormone-mediated signaling pathway Source: GO_Central
- hormone metabolic process Source: Ensembl
- luteinization Source: Ensembl
- maintenance of protein location in nucleus Source: Ensembl
- male gonad development Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- multicellular organism aging Source: Ensembl
- negative regulation of female gonad development Source: Ensembl
- positive regulation of gene expression Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of male gonad development Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of transcription by RNA polymerase II Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- primary sex determination Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- regulation of steroid biosynthetic process Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- response to gonadotropin-releasing hormone Source: Ensembl
- sex determination Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- tissue development Source: GO_Central
- transcription initiation from RNA polymerase II promoter Source: Reactome
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Activator, DNA-binding, Receptor |
| Biological process | Transcription, Transcription regulation |
| Ligand | Lipid-binding, Metal-binding, Zinc |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-452723 Transcriptional regulation of pluripotent stem cells |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q13285 |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q13285 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Steroidogenic factor 1Short name: SF-1 Short name: STF-1 Short name: hSF-11 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
Alternative name(s): Adrenal 4-binding protein Fushi tarazu factor homolog 1 Nuclear receptor subfamily 5 group A member 1 Steroid hormone receptor Ad4BP |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:NR5A1 Synonyms:AD4BP, FTZF1, SF1 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000136931.9 |
Human Gene Nomenclature Database More...HGNCi | HGNC:7983 NR5A1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 184757 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q13285 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
<p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi
2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.10"Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5."
Jacob A.L., Lund J., Martinez P., Hedin L.
J. Biol. Chem. 276:37659-37664(2001) [PubMed] [Europe PMC] [Abstract]Cited for: ACETYLATION AT LYS-34; LYS-38 AND LYS-72, SUBCELLULAR LOCATION. - Ref.28"NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development."
Baetens D., Stoop H., Peelman F., Todeschini A.L., Rosseel T., Coppieters F., Veitia R.A., Looijenga L.H., De Baere E., Cools M.
Genet. Med. 19:367-376(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, INVOLVEMENT IN SRXX4, CHARACTERIZATIONOF VARIANT SRXY3 GLN-92, SUBCELLULAR LOCATION.
- Nucleus PROSITE-ProRule annotation
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- RNA polymerase II transcription factor complex Source: BHF-UCL
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
46,XY sex reversal 3 (SRXY3)8 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.19"A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans."
Achermann J.C., Ito M., Ito M., Hindmarsh P.C., Jameson J.L.
Nat. Genet. 22:125-126(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SRXY3 GLU-35. - Ref.21"Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner."
Achermann J.C., Ozisik G., Ito M., Orun U.A., Harmanci K., Gurakan B., Jameson J.L.
J. Clin. Endocrinol. Metab. 87:1829-1833(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SRXY3 GLN-92. - Ref.22"Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function."
Lin L., Philibert P., Ferraz-de-Souza B., Kelberman D., Homfray T., Albanese A., Molini V., Sebire N.J., Einaudi S., Conway G.S., Hughes I.A., Jameson J.L., Sultan C., Dattani M.T., Achermann J.C.
J. Clin. Endocrinol. Metab. 92:991-999(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SRXY3 MET-15; ILE-78; SER-91 AND GLN-437. - Ref.23"Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency."
Koehler B., Lin L., Ferraz-de-Souza B., Wieacker P., Heidemann P., Schroeder V., Biebermann H., Schnabel D., Grueters A., Achermann J.C.
Hum. Mutat. 29:59-64(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SRXY3 SER-33 AND HIS-84, VARIANT ALA-146, CHARACTERIZATION OF VARIANTS SRXY3 SER-33 AND HIS-84. - Ref.26"The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency."
Fabbri H.C., de Andrade J.G., Soardi F.C., de Calais F.L., Petroli R.J., Maciel-Guerra A.T., Guerra-Junior G., de Mello M.P.
BMC Med. Genet. 15:7-7(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SRXY3 TYR-65. - Ref.28"NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development."
Baetens D., Stoop H., Peelman F., Todeschini A.L., Rosseel T., Coppieters F., Veitia R.A., Looijenga L.H., De Baere E., Cools M.
Genet. Med. 19:367-376(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, INVOLVEMENT IN SRXX4, CHARACTERIZATIONOF VARIANT SRXY3 GLN-92, SUBCELLULAR LOCATION. - Ref.30"A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development."
Members of UDN
Bashamboo A., Donohoue P.A., Vilain E., Rojo S., Calvel P., Seneviratne S.N., Buonocore F., Barseghyan H., Bingham N., Rosenfeld J.A., Mulukutla S.N., Jain M., Burrage L., Dhar S., Balasubramanyam A., Lee B., Dumargne M.C., Eozenou C. , Suntharalingham J.P., de Silva K., Lin L., Bignon-Topalovic J., Poulat F., Lagos C.F., McElreavey K., Achermann J.C.
Hum. Mol. Genet. 25:3446-3453(2016) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN SRXX4, INVOLVEMENT IN SRXY3, VARIANT SRXX4 TRP-92, VARIANT SRXY3 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, FUNCTION. - Ref.32"New NR5A1 mutations and phenotypic variations of gonadal dysgenesis."
Werner R., Moenig I., Luenstedt R., Wuensch L., Thorns C., Reiz B., Krause A., Schwab K.O., Binder G., Holterhus P.M., Hiort O.
PLoS ONE 12:E0176720-E0176720(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SRXY3 18-ASP--GLY-22 DEL AND PRO-40, CHARACTERIZATION OF VARIANTS SRXY3 18-ASP--GLY-22 DEL AND PRO-40, FUNCTION.
Achermann J.C., Ito M., Ito M., Hindmarsh P.C., Jameson J.L.
Nat. Genet. 22:125-126(1999) [PubMed] [Europe PMC] [Abstract]
Achermann J.C., Ozisik G., Ito M., Orun U.A., Harmanci K., Gurakan B., Jameson J.L.
J. Clin. Endocrinol. Metab. 87:1829-1833(2002) [PubMed] [Europe PMC] [Abstract]
Lin L., Philibert P., Ferraz-de-Souza B., Kelberman D., Homfray T., Albanese A., Molini V., Sebire N.J., Einaudi S., Conway G.S., Hughes I.A., Jameson J.L., Sultan C., Dattani M.T., Achermann J.C.
J. Clin. Endocrinol. Metab. 92:991-999(2007) [PubMed] [Europe PMC] [Abstract]
Koehler B., Lin L., Ferraz-de-Souza B., Wieacker P., Heidemann P., Schroeder V., Biebermann H., Schnabel D., Grueters A., Achermann J.C.
Hum. Mutat. 29:59-64(2008) [PubMed] [Europe PMC] [Abstract]
Fabbri H.C., de Andrade J.G., Soardi F.C., de Calais F.L., Petroli R.J., Maciel-Guerra A.T., Guerra-Junior G., de Mello M.P.
BMC Med. Genet. 15:7-7(2014) [PubMed] [Europe PMC] [Abstract]
Baetens D., Stoop H., Peelman F., Todeschini A.L., Rosseel T., Coppieters F., Veitia R.A., Looijenga L.H., De Baere E., Cools M.
Genet. Med. 19:367-376(2017) [PubMed] [Europe PMC] [Abstract]
Members of UDN
Bashamboo A., Donohoue P.A., Vilain E., Rojo S., Calvel P., Seneviratne S.N., Buonocore F., Barseghyan H., Bingham N., Rosenfeld J.A., Mulukutla S.N., Jain M., Burrage L., Dhar S., Balasubramanyam A., Lee B., Dumargne M.C., Eozenou C. , Suntharalingham J.P., de Silva K., Lin L., Bignon-Topalovic J., Poulat F., Lagos C.F., McElreavey K., Achermann J.C.
Hum. Mol. Genet. 25:3446-3453(2016) [PubMed] [Europe PMC] [Abstract]
Werner R., Moenig I., Luenstedt R., Wuensch L., Thorns C., Reiz B., Krause A., Schwab K.O., Binder G., Holterhus P.M., Hiort O.
PLoS ONE 12:E0176720-E0176720(2017) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063255 | 15 | V → M in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079571 | 18 – 22 | Missing in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 5 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039106 | 33 | C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004737 | 35 | G → E in SRXY3; with adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079572 | 40 | T → P in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078136 | 65 | C → Y in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063256 | 78 | M → I in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039107 | 84 | R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063257 | 91 | G → S in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016982 | 92 | R → Q in SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063258 | 437 | L → Q in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
46,XX sex reversal 4 (SRXX4)4 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.28"NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development."
Baetens D., Stoop H., Peelman F., Todeschini A.L., Rosseel T., Coppieters F., Veitia R.A., Looijenga L.H., De Baere E., Cools M.
Genet. Med. 19:367-376(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, INVOLVEMENT IN SRXX4, CHARACTERIZATIONOF VARIANT SRXY3 GLN-92, SUBCELLULAR LOCATION. - Ref.29"A 46,XX ovotesticular disorder of sex development likely caused by a steroidogenic factor-1 (NR5A1) variant."
Swartz J.M., Ciarlo R., Guo M.H., Abrha A., Weaver B., Diamond D.A., Chan Y.M., Hirschhorn J.N.
Horm. Res. Paediatr. 87:191-195(2017) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN SRXX4, VARIANT SRXX4 GLN-92. - Ref.30"A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development."
Members of UDN
Bashamboo A., Donohoue P.A., Vilain E., Rojo S., Calvel P., Seneviratne S.N., Buonocore F., Barseghyan H., Bingham N., Rosenfeld J.A., Mulukutla S.N., Jain M., Burrage L., Dhar S., Balasubramanyam A., Lee B., Dumargne M.C., Eozenou C. , Suntharalingham J.P., de Silva K., Lin L., Bignon-Topalovic J., Poulat F., Lagos C.F., McElreavey K., Achermann J.C.
Hum. Mol. Genet. 25:3446-3453(2016) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN SRXX4, INVOLVEMENT IN SRXY3, VARIANT SRXX4 TRP-92, VARIANT SRXY3 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, FUNCTION. - Ref.31"Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues."
Igarashi M., Takasawa K., Hakoda A., Kanno J., Takada S., Miyado M., Baba T., Morohashi K.I., Tajima T., Hata K., Nakabayashi K., Matsubara Y., Sekido R., Ogata T., Kashimada K., Fukami M.
Hum. Mutat. 38:39-42(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, INVOLVEMENT IN SRXX4.
Baetens D., Stoop H., Peelman F., Todeschini A.L., Rosseel T., Coppieters F., Veitia R.A., Looijenga L.H., De Baere E., Cools M.
Genet. Med. 19:367-376(2017) [PubMed] [Europe PMC] [Abstract]
Swartz J.M., Ciarlo R., Guo M.H., Abrha A., Weaver B., Diamond D.A., Chan Y.M., Hirschhorn J.N.
Horm. Res. Paediatr. 87:191-195(2017) [PubMed] [Europe PMC] [Abstract]
Members of UDN
Bashamboo A., Donohoue P.A., Vilain E., Rojo S., Calvel P., Seneviratne S.N., Buonocore F., Barseghyan H., Bingham N., Rosenfeld J.A., Mulukutla S.N., Jain M., Burrage L., Dhar S., Balasubramanyam A., Lee B., Dumargne M.C., Eozenou C. , Suntharalingham J.P., de Silva K., Lin L., Bignon-Topalovic J., Poulat F., Lagos C.F., McElreavey K., Achermann J.C.
Hum. Mol. Genet. 25:3446-3453(2016) [PubMed] [Europe PMC] [Abstract]
Igarashi M., Takasawa K., Hakoda A., Kanno J., Takada S., Miyado M., Baba T., Morohashi K.I., Tajima T., Hata K., Nakabayashi K., Matsubara Y., Sekido R., Ogata T., Kashimada K., Fukami M.
Hum. Mutat. 38:39-42(2017) [PubMed] [Europe PMC] [Abstract]
Adrenal insufficiency, NR5A1-related (AINR)2 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.20"Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency."
Biason-Lauber A., Schoenle E.J.
Am. J. Hum. Genet. 67:1563-1568(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AINR LEU-255. - Ref.27"Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort."
Guran T., Buonocore F., Saka N., Ozbek M.N., Aycan Z., Bereket A., Bas F., Darcan S., Bideci A., Guven A., Demir K., Akinci A., Buyukinan M., Aydin B.K., Turan S., Agladioglu S.Y., Atay Z., Abali Z.Y. , Tarim O., Catli G., Yuksel B., Akcay T., Yildiz M., Ozen S., Doger E., Demirbilek H., Ucar A., Isik E., Ozhan B., Bolu S., Ozgen I.T., Suntharalingham J.P., Achermann J.C.
J. Clin. Endocrinol. Metab. 101:284-292(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AINR GLN-92.
Biason-Lauber A., Schoenle E.J.
Am. J. Hum. Genet. 67:1563-1568(2000) [PubMed] [Europe PMC] [Abstract]
Guran T., Buonocore F., Saka N., Ozbek M.N., Aycan Z., Bereket A., Bas F., Darcan S., Bideci A., Guven A., Demir K., Akinci A., Buyukinan M., Aydin B.K., Turan S., Agladioglu S.Y., Atay Z., Abali Z.Y. , Tarim O., Catli G., Yuksel B., Akcay T., Yildiz M., Ozen S., Doger E., Demirbilek H., Ucar A., Isik E., Ozhan B., Bolu S., Ozgen I.T., Suntharalingham J.P., Achermann J.C.
J. Clin. Endocrinol. Metab. 101:284-292(2016) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016983 | 255 | R → L in AINR. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Premature ovarian failure 7 (POF7)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.24"Mutations in NR5A1 associated with ovarian insufficiency."
Lourenco D., Brauner R., Lin L., De Perdigo A., Weryha G., Muresan M., Boudjenah R., Guerra-Junior G., Maciel-Guerra A.T., Achermann J.C., McElreavey K., Bashamboo A.
N. Engl. J. Med. 360:1200-1210(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS POF7 ALA-123; LEU-129; 231-LEU--LEU-233 DEL AND ASN-293, VARIANT ALA-146, CHARACTERIZATION OF VARIANTS POF7 ALA-123; LEU-129 AND ASN-293.
Lourenco D., Brauner R., Lin L., De Perdigo A., Weryha G., Muresan M., Boudjenah R., Guerra-Junior G., Maciel-Guerra A.T., Achermann J.C., McElreavey K., Bashamboo A.
N. Engl. J. Med. 360:1200-1210(2009) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062969 | 231 – 233 | Missing in POF7. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 3 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062970 | 293 | D → N in POF7; without adrenal failure; partial loss of activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Spermatogenic failure 8 (SPGF8)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.25"Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1."
Bashamboo A., Ferraz-de-Souza B., Lourenco D., Lin L., Sebire N.J., Montjean D., Bignon-Topalovic J., Mandelbaum J., Siffroi J.P., Christin-Maitre S., Radhakrishna U., Rouba H., Ravel C., Seeler J., Achermann J.C., McElreavey K.
Am. J. Hum. Genet. 87:505-512(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SPGF8 ALA-123; LEU-129; LEU-131; CYS-191; SER-212 AND ASN-238, CHARACTERIZATION OF VARIANTS SPGF8 LEU-131; CYS-191; SER-212 AND ASN-238.
Bashamboo A., Ferraz-de-Souza B., Lourenco D., Lin L., Sebire N.J., Montjean D., Bignon-Topalovic J., Mandelbaum J., Siffroi J.P., Christin-Maitre S., Radhakrishna U., Rouba H., Ravel C., Seeler J., Achermann J.C., McElreavey K.
Am. J. Hum. Genet. 87:505-512(2010) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065866 | 131 | P → L in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065867 | 191 | R → C in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065868 | 212 | G → S in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065869 | 238 | D → N in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 119 | K → R: Loss of sumoylation; when associated with R-194. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 194 | K → R: Loss of sumoylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 269 | A → F: Strongly reduced transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 341 | G → E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 344 | L → F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 433 | A → F: Strongly reduced transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 436 | Y → F: Loss of transactivation; when associated with A-440. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 440 | K → A: Loss of transactivation; when associated with F-436. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutation, Premature ovarian failureOrganism-specific databases
DisGeNET More...DisGeNETi | 2516 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | NR5A1 |
MalaCards human disease database More...MalaCardsi | NR5A1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 612964 phenotype 612965 phenotype 613957 phenotype 617480 phenotype |
Open Targets More...OpenTargetsi | ENSG00000136931 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 243 46,XX gonadal dysgenesis 242 46,XY complete gonadal dysgenesis 251510 46,XY partial gonadal dysgenesis 399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 619 Primary ovarian failure |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA31764 |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL4666 |
Drug and drug target database More...DrugBanki | DB04752 Phosphatidyl ethanol |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | NR5A1 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 3121738 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000053729 | 1 – 461 | Steroidogenic factor 1Add BLAST | 461 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 34 | N6-acetyllysine1 Publication <p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 38 | N6-acetyllysine1 Publication <p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 72 | N6-acetyllysine1 Publication <p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes covalent linkages of various types formed between two proteins (interchain cross-links) or between two parts of the same protein (intrachain cross-links), except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki | 119 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes covalent linkages of various types formed between two proteins (interchain cross-links) or between two parts of the same protein (intrachain cross-links), except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki | 194 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 203 | Phosphoserine; by CDK73 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.10"Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5."
Jacob A.L., Lund J., Martinez P., Hedin L.
J. Biol. Chem. 276:37659-37664(2001) [PubMed] [Europe PMC] [Abstract]Cited for: ACETYLATION AT LYS-34; LYS-38 AND LYS-72, SUBCELLULAR LOCATION.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.12"Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9."
Komatsu T., Mizusaki H., Mukai T., Ogawa H., Baba D., Shirakawa M., Hatakeyama S., Nakayama K.I., Yamamoto H., Kikuchi A., Morohashi K.
Mol. Endocrinol. 18:2451-2462(2004) [PubMed] [Europe PMC] [Abstract]Cited for: SUMOYLATION AT LYS-119 AND LYS-194, MUTAGENESIS OF LYS-119 AND LYS-194. - Ref.16"SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation."
Yang W.-H., Heaton J.H., Brevig H., Mukherjee S., Iniguez-Lluhi J.A., Hammer G.D.
Mol. Cell. Biol. 29:613-625(2009) [PubMed] [Europe PMC] [Abstract]Cited for: SUMOYLATION, PHOSPHORYLATION AT SER-203.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.9"Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress."
Hammer G.D., Krylova I., Zhang Y., Darimont B.D., Simpson K., Weigel N.L., Ingraham H.A.
Mol. Cell 3:521-526(1999) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-203. - Ref.15"Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7."
Lewis A.E., Rusten M., Hoivik E.A., Vikse E.L., Hansson M.L., Wallberg A.E., Bakke M.
Mol. Endocrinol. 22:91-104(2008) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-203, INTERACTION WITH CDK7. - Ref.16"SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation."
Yang W.-H., Heaton J.H., Brevig H., Mukherjee S., Iniguez-Lluhi J.A., Hammer G.D.
Mol. Cell. Biol. 29:613-625(2009) [PubMed] [Europe PMC] [Abstract]Cited for: SUMOYLATION, PHOSPHORYLATION AT SER-203.
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q13285 |
PeptideAtlas More...PeptideAtlasi | Q13285 |
PRoteomics IDEntifications database More...PRIDEi | Q13285 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 59276 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q13285 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q13285 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies."
Ramayya M.S., Zhou J., Kino T., Segars J.H., Bondy C.A., Chrousos G.P.
J. Clin. Endocrinol. Metab. 82:1799-1806(1997) [PubMed] [Europe PMC] [Abstract]Cited for: TISSUE SPECIFICITY.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000136931 |
CleanEx database of gene expression profiles More...CleanExi | HS_NR5A1 HS_SF1 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q13285 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q13285 HS |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
6 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.11"Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein-associated splicing factor, and SF-1, a complex that also participates in repression of transcription."
Sewer M.B., Nguyen V.Q., Huang C.J., Tucker P.W., Kagawa N., Waterman M.R.
Endocrinology 143:1280-1290(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH SFPQ, IDENTIFICATION IN A COMPLEX WITH SFPQ AND NONO. - Ref.13"Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and c-Jun phosphorylation."
Lan H.-C., Li H.-J., Lin G., Lai P.-Y., Chung B.-C.
Mol. Cell. Biol. 27:2027-2036(2007) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH HIPK3. - Ref.14"Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17."
Li D., Urs A.N., Allegood J., Leon A., Merrill A.H. Jr., Sewer M.B.
Mol. Cell. Biol. 27:6669-6685(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH DGKQ. - Ref.15"Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7."
Lewis A.E., Rusten M., Hoivik E.A., Vikse E.L., Hansson M.L., Wallberg A.E., Bakke M.
Mol. Endocrinol. 22:91-104(2008) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-203, INTERACTION WITH CDK7. - Ref.17"Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1."
Krylova I.N., Sablin E.P., Moore J., Xu R.X., Waitt G.M., MacKay J.A., Juzumiene D., Bynum J.M., Madauss K., Montana V., Lebedeva L., Suzawa M., Williams J.D., Williams S.P., Guy R.K., Thornton J.W., Fletterick R.J., Willson T.M., Ingraham H.A.
Cell 120:343-355(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 222-461 IN COMPLEX WITH NCOA2 AND PHOSPHOLIPID. - Ref.18"The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1."
Wang W., Zhang C., Marimuthu A., Krupka H.I., Tabrizizad M., Shelloe R., Mehra U., Eng K., Nguyen H., Settachatgul C., Powell B., Milburn M.V., West B.L.
Proc. Natl. Acad. Sci. U.S.A. 102:7505-7510(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 221-461 IN COMPLEX WITH NCOA2 AND PHOSPHOLIPID, MUTAGENESIS OF ALA-269; GLY-341; LEU-344; ALA-433; TYR-436 AND LYS-440.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| NCK2 | O43639 | 3 | EBI-874629,EBI-713635 | |
| NR0B1 | P51843 | 8 | EBI-874629,EBI-946109 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- enzyme binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 108792, 26 interactors |
Protein interaction database and analysis system More...IntActi | Q13285, 41 interactors |
Molecular INTeraction database More...MINTi | Q13285 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000362690 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | Q13285 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 225 – 233 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 239 – 243 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 262 – 282 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 21 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 286 – 288 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 291 – 317 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 27 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 322 – 324 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 326 – 328 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 330 – 332 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 333 – 339 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 342 – 360 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 19 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 365 – 376 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 381 – 383 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 387 – 408 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 22 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 411 – 413 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 415 – 442 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 28 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 451 – 456 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 6 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q13285 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q13285 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Miscellaneous databases
Relative evolutionary importance of amino acids within a protein sequence More...EvolutionaryTracei | Q13285 |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini | 222 – 459 | NR LBDPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 238 |
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 230 – 461 | Important for dimerizationAdd BLAST | 232 |
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
Zinc finger
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 13 – 33 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 21 | |
| <p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 49 – 73 | NR C4-typePROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 25 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
Zinc-fingerPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG4218 Eukaryota ENOG410YWC2 LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00870000136388 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000063718 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG106677 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q13285 |
KEGG Orthology (KO) More...KOi | K08560 |
Identification of Orthologs from Complete Genome Data More...OMAi | LQEPAKG |
Database of Orthologous Groups More...OrthoDBi | EOG091G06RK |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q13285 |
TreeFam database of animal gene trees More...TreeFami | TF350737 |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 3.30.50.10, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR035500 NHR_like_dom_sf IPR016355 NR5_fam IPR000536 Nucl_hrmn_rcpt_lig-bd IPR001723 Nuclear_hrmn_rcpt IPR001628 Znf_hrmn_rcpt IPR013088 Znf_NHR/GATA |
The PANTHER Classification System More...PANTHERi | PTHR24086 PTHR24086, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF002530 Nuc_orph_FTZ-F1, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00398 STRDHORMONER PR00047 STROIDFINGER |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF48508 SSF48508, 2 hits |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
10 20 30 40 50
MDYSYDEDLD ELCPVCGDKV SGYHYGLLTC ESCKGFFKRT VQNNKHYTCT
60 70 80 90 100
ESQSCKIDKT QRKRCPFCRF QKCLTVGMRL EAVRADRMRG GRNKFGPMYK
110 120 130 140 150
RDRALKQQKK AQIRANGFKL ETGPPMGVPP PPPPAPDYVL PPSLHGPEPK
160 170 180 190 200
GLAAGPPAGP LGDFGAPALP MAVPGAHGPL AGYLYPAFPG RAIKSEYPEP
210 220 230 240 250
YASPPQPGLP YGYPEPFSGG PNVPELILQL LQLEPDEDQV RARILGCLQE
260 270 280 290 300
PTKSRPDQPA AFGLLCRMAD QTFISIVDWA RRCMVFKELE VADQMTLLQN
310 320 330 340 350
CWSELLVFDH IYRQVQHGKE GSILLVTGQE VELTTVATQA GSLLHSLVLR
360 370 380 390 400
AQELVLQLLA LQLDRQEFVC LKFIILFSLD LKFLNNHILV KDAQEKANAA
410 420 430 440 450
LLDYTLCHYP HCGDKFQQLL LCLVEVRALS MQAKEYLYHK HLGNEMPRNN
460
LLIEMLQAKQ T
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 63 | K → N in BAA13546 (PubMed:8806624).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063255 | 15 | V → M in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079571 | 18 – 22 | Missing in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 5 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039106 | 33 | C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004737 | 35 | G → E in SRXY3; with adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079572 | 40 | T → P in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078136 | 65 | C → Y in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063256 | 78 | M → I in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039107 | 84 | R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063257 | 91 | G → S in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016982 | 92 | R → Q in SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078137 | 92 | R → W in SRXY3 and SRXX4; decreased transactivator activity; loss of DNA binding, at least to some known consensus target sequences; no effect on nuclear location. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062967 | 123 | G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062968 | 129 | P → L in SPGF8 and POF7; loss of activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065866 | 131 | P → L in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039108 | 146 | G → A2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065867 | 191 | R → C in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065868 | 212 | G → S in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062969 | 231 – 233 | Missing in POF7. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 3 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065869 | 238 | D → N in SPGF8; impairs transactivational activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016983 | 255 | R → L in AINR. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062970 | 293 | D → N in POF7; without adrenal failure; partial loss of activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063258 | 437 | L → Q in SRXY3; without adrenal failure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | D88155 Genomic DNA Translation: BAA13546.1 U76388 mRNA Translation: AAB53105.1 AL137846 Genomic DNA No translation available. AL354979 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87591.1 BC032501 mRNA Translation: AAH32501.1 U32592 Genomic DNA Translation: AAA75332.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS6856.1 |
Protein sequence database of the Protein Information Resource More...PIRi | JC4972 |
NCBI Reference Sequences More...RefSeqi | NP_004950.2, NM_004959.4 XP_005251928.1, XM_005251871.3 XP_011516757.1, XM_011518455.2 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.495108 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000373588; ENSP00000362690; ENSG00000136931 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 2516 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:2516 |
UCSC genome browser More...UCSCi | uc004boo.2 human |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q13285 | Steroidogenic factor 1 nuclear receptor | 461 | |||
| Steroidogenic factor 1 (Fragment) | 177 |
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q13285 | Steroidogenic factor 1 nuclear receptor | 461 | |||
| UPI00048DC472 | 557 | ||||
| Nuclear receptor subfamily 5 group A member 1 | 465 | ||||
| UPI0003318E87 | 464 | ||||
| Nuclear receptor subfamily 5 group A member 1 | 463 | ||||
| +105 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q13285 | Steroidogenic factor 1 nuclear receptor | 461 | |||
| UPI00048DC472 | 557 | ||||
| Nuclear receptor subfamily 5 group A member 1 | 465 | ||||
| UPI0003318E87 | 464 | ||||
| Nuclear receptor subfamily 5 group A member 1 | 463 | ||||
| +611 | |||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | D88155 Genomic DNA Translation: BAA13546.1 U76388 mRNA Translation: AAB53105.1 AL137846 Genomic DNA No translation available. AL354979 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87591.1 BC032501 mRNA Translation: AAH32501.1 U32592 Genomic DNA Translation: AAA75332.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS6856.1 |
Protein sequence database of the Protein Information Resource More...PIRi | JC4972 |
NCBI Reference Sequences More...RefSeqi | NP_004950.2, NM_004959.4 XP_005251928.1, XM_005251871.3 XP_011516757.1, XM_011518455.2 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.495108 |
3D structure databases
| Select the link destinations: Protein Data Bank Europe More...PDBeiProtein Data Bank RCSB More...RCSB PDBiProtein Data Bank Japan More...PDBjiLinks Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 1YOW | X-ray | 3.00 | A | 222-461 | [»] | |
| 1ZDT | X-ray | 2.10 | A/B | 221-461 | [»] | |
| 4QJR | X-ray | 2.40 | A | 218-461 | [»] | |
| 4QK4 | X-ray | 2.81 | A | 218-461 | [»] | |
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q13285 | |||||
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q13285 | |||||
Database of comparative protein structure models More...ModBasei | Search... | |||||
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... | |||||
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 108792, 26 interactors |
Protein interaction database and analysis system More...IntActi | Q13285, 41 interactors |
Molecular INTeraction database More...MINTi | Q13285 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000362690 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | Q13285 |
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL4666 |
Drug and drug target database More...DrugBanki | DB04752 Phosphatidyl ethanol |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q13285 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q13285 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | NR5A1 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 3121738 |
Proteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q13285 |
PeptideAtlas More...PeptideAtlasi | Q13285 |
PRoteomics IDEntifications database More...PRIDEi | Q13285 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 59276 |
Protocols and materials databases
The DNASU plasmid repository More...DNASUi | 2516 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000373588; ENSP00000362690; ENSG00000136931 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 2516 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:2516 |
UCSC genome browser More...UCSCi | uc004boo.2 human |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 2516 |
DisGeNET More...DisGeNETi | 2516 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000136931.9 |
GeneCards: human genes, protein and diseases More...GeneCardsi | NR5A1 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | NR5A1 |
Human Gene Nomenclature Database More...HGNCi | HGNC:7983 NR5A1 |
MalaCards human disease database More...MalaCardsi | NR5A1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 184757 gene 612964 phenotype 612965 phenotype 613957 phenotype 617480 phenotype |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q13285 |
Open Targets More...OpenTargetsi | ENSG00000136931 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 243 46,XX gonadal dysgenesis 242 46,XY complete gonadal dysgenesis 251510 46,XY partial gonadal dysgenesis 399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 619 Primary ovarian failure |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA31764 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG4218 Eukaryota ENOG410YWC2 LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00870000136388 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000063718 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG106677 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q13285 |
KEGG Orthology (KO) More...KOi | K08560 |
Identification of Orthologs from Complete Genome Data More...OMAi | LQEPAKG |
Database of Orthologous Groups More...OrthoDBi | EOG091G06RK |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q13285 |
TreeFam database of animal gene trees More...TreeFami | TF350737 |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-452723 Transcriptional regulation of pluripotent stem cells |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q13285 |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q13285 |
Miscellaneous databases
Relative evolutionary importance of amino acids within a protein sequence More...EvolutionaryTracei | Q13285 |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | Steroidogenic_factor_1 |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 2516 |
Protein Ontology More...PROi | PR:Q13285 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000136931 |
CleanEx database of gene expression profiles More...CleanExi | HS_NR5A1 HS_SF1 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q13285 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q13285 HS |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 3.30.50.10, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR035500 NHR_like_dom_sf IPR016355 NR5_fam IPR000536 Nucl_hrmn_rcpt_lig-bd IPR001723 Nuclear_hrmn_rcpt IPR001628 Znf_hrmn_rcpt IPR013088 Znf_NHR/GATA |
The PANTHER Classification System More...PANTHERi | PTHR24086 PTHR24086, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF002530 Nuc_orph_FTZ-F1, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00398 STRDHORMONER PR00047 STROIDFINGER |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF48508 SSF48508, 2 hits |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | STF1_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | Q13285Primary (citable) accession number: Q13285 Secondary accession number(s): O15196, Q5T6F5 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
| Last sequence update: | January 1, 1998 | |
| Last modified: | July 18, 2018 | |
| This is version 205 of the entry and version 2 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families
