Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q13285 (STF1_HUMAN)

Entry version 218 (11 Dec 2019)
Sequence version 2 (01 Jan 1998)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Steroidogenic factor 1

Gene

NR5A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

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>

<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

Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.By similarity3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei341Lipid headgroup; via amide nitrogen1
Binding sitei436Lipid headgroup1
Binding sitei440Lipid headgroup1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi10 – 85Nuclear receptorPROSITE-ProRule annotationAdd BLAST76
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 fingeri13 – 33NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri49 – 73NR C4-typePROSITE-ProRule annotationAdd BLAST25

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionActivator, DNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandLipid-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-4090294 SUMOylation of intracellular receptors
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 1
Short name:
SF-1
Short name:
STF-1
Short name:
hSF-11 Publication
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>OrganismiHomo 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 identifieri9606 [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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

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
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_06325515V → M in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894124EnsemblClinVar.1
Natural variantiVAR_07957118 – 22Missing in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication5
Natural variantiVAR_03910633C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication1
Natural variantiVAR_00473735G → E in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs121918654EnsemblClinVar.1
Natural variantiVAR_07957240T → P in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication1
Natural variantiVAR_07813665C → Y in SRXY3; without adrenal failure. 1 Publication1
Natural variantiVAR_06325678M → I in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894125EnsemblClinVar.1
Natural variantiVAR_03910784R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs375469069Ensembl.1
Natural variantiVAR_06325791G → S in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894126EnsemblClinVar.1
Natural variantiVAR_01698292R → Q in SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location. 4 PublicationsCorresponds to variant dbSNP:rs104894119EnsemblClinVar.1
Natural variantiVAR_07813792R → 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 PublicationsCorresponds to variant dbSNP:rs886039769EnsemblClinVar.1
Natural variantiVAR_063258437L → Q in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894120EnsemblClinVar.1
46,XX sex reversal 4 (SRXX4)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition in which male gonads develop in a genetic female (female to male sex reversal).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07813792R → 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 PublicationsCorresponds to variant dbSNP:rs886039769EnsemblClinVar.1
Adrenal insufficiency, NR5A1-related (AINR)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01698292R → Q in SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location. 4 PublicationsCorresponds to variant dbSNP:rs104894119EnsemblClinVar.1
Natural variantiVAR_016983255R → L in AINR. 1 PublicationCorresponds to variant dbSNP:rs104894118EnsemblClinVar.1
Premature ovarian failure 7 (POF7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062967123G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs200163795EnsemblClinVar.1
Natural variantiVAR_062968129P → L in SPGF8 and POF7; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs200749741EnsemblClinVar.1
Natural variantiVAR_062969231 – 233Missing in POF7. 1 Publication3
Natural variantiVAR_062970293D → N in POF7; without adrenal failure; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121918655EnsemblClinVar.1
Spermatogenic failure 8 (SPGF8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062967123G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs200163795EnsemblClinVar.1
Natural variantiVAR_062968129P → L in SPGF8 and POF7; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs200749741EnsemblClinVar.1
Natural variantiVAR_065866131P → L in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs387906690EnsemblClinVar.1
Natural variantiVAR_065867191R → C in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs1253324106Ensembl.1
Natural variantiVAR_065868212G → S in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs201095702EnsemblClinVar.1
Natural variantiVAR_065869238D → N in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs780568525Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Mutagenesisi119K → R: Loss of sumoylation; when associated with R-194. 1 Publication1
Mutagenesisi194K → R: Loss of sumoylation. 1 Publication1
Mutagenesisi269A → F: Strongly reduced transactivation. 1 Publication1
Mutagenesisi341G → E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344. 1 Publication1
Mutagenesisi344L → F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341. 1 Publication1
Mutagenesisi433A → F: Strongly reduced transactivation. 1 Publication1
Mutagenesisi436Y → F: Loss of transactivation; when associated with A-440. 1 Publication1
Mutagenesisi440K → A: Loss of transactivation; when associated with F-436. 1 Publication1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-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
MIMi612964 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
2138 46,XX ovotesticular disorder of sex development
393 46,XX testicular disorder of sex development
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 NON RARE IN EUROPE: Primary ovarian failure

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31764

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13285 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4666

Drug and drug target database

More...DrugBanki		DB04683 (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE
DB04752 Phosphatidyl ethanol

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		632

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 keyPosition(s)DescriptionActionsGraphical viewLength
<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_00000537291 – 461Steroidogenic factor 1Add BLAST461

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei34N6-acetyllysine1 Publication1
Modified residuei38N6-acetyllysine1 Publication1
Modified residuei72N6-acetyllysine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, 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-linki119Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Cross-linki194Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei203Phosphoserine; by CDK73 Publications1

<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

Acetylation stimulates the transcriptional activity.1 Publication
Sumoylation reduces CDK7-mediated phosphorylation on Ser-203.2 Publications
Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity.3 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13285

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: a multi-organism 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

High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136931 Expressed in 55 organ(s), highest expression level in right adrenal gland cortex

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

Binds DNA as a monomer.

Interacts with NR0B2 and PPARGC1A (By similarity).

Part of a complex consisting of SFPQ, NONO and NR5A1.

Interacts with NCOA2.

Interacts with DGKQ and CDK7. Binds to and activated by HIPK3.

By similarity6 Publications

<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

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108792, 33 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q13285

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

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13285 protein

<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

1461
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13285

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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 keyPosition(s)DescriptionActionsGraphical viewLength
<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>Domaini222 – 459NR LBDPROSITE-ProRule annotationAdd BLAST238

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Regioni230 – 461Important for dimerizationAdd BLAST232

<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

Belongs to the nuclear hormone receptor family. NR5 subfamily.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 33NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri49 – 73NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4218 Eukaryota
ENOG410YWC2 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153391

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000063718

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13285

KEGG Orthology (KO)

More...KOi		K08560

Identification of Orthologs from Complete Genome Data

More...OMAi		YTCAENQ

Database of Orthologous Groups

More...OrthoDBi		619653at2759

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		1.10.565.10, 1 hit
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, 1 hit

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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<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.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q13285-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:461
Mass (Da):51,636
Last modified:January 1, 1998 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i622644C62794826C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F1DAM0F1DAM0_HUMAN
Steroidogenic factor 1
NR5A1
421Annotation score:

Annotation score:2 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>
Q5T6F6Q5T6F6_HUMAN
Steroidogenic factor 1
NR5A1
177Annotation score:

Annotation score:1 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>
Q5T6F7Q5T6F7_HUMAN
Steroidogenic factor 1
NR5A1
245Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti63K → N in BAA13546 (PubMed:8806624).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06325515V → M in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894124EnsemblClinVar.1
Natural variantiVAR_07957118 – 22Missing in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication5
Natural variantiVAR_03910633C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication1
Natural variantiVAR_00473735G → E in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs121918654EnsemblClinVar.1
Natural variantiVAR_07957240T → P in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication1
Natural variantiVAR_07813665C → Y in SRXY3; without adrenal failure. 1 Publication1
Natural variantiVAR_06325678M → I in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894125EnsemblClinVar.1
Natural variantiVAR_03910784R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs375469069Ensembl.1
Natural variantiVAR_06325791G → S in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894126EnsemblClinVar.1
Natural variantiVAR_01698292R → Q in SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location. 4 PublicationsCorresponds to variant dbSNP:rs104894119EnsemblClinVar.1
Natural variantiVAR_07813792R → 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 PublicationsCorresponds to variant dbSNP:rs886039769EnsemblClinVar.1
Natural variantiVAR_062967123G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs200163795EnsemblClinVar.1
Natural variantiVAR_062968129P → L in SPGF8 and POF7; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs200749741EnsemblClinVar.1
Natural variantiVAR_065866131P → L in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs387906690EnsemblClinVar.1
Natural variantiVAR_039108146G → A2 PublicationsCorresponds to variant dbSNP:rs1110061EnsemblClinVar.1
Natural variantiVAR_065867191R → C in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs1253324106Ensembl.1
Natural variantiVAR_065868212G → S in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs201095702EnsemblClinVar.1
Natural variantiVAR_062969231 – 233Missing in POF7. 1 Publication3
Natural variantiVAR_065869238D → N in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs780568525Ensembl.1
Natural variantiVAR_016983255R → L in AINR. 1 PublicationCorresponds to variant dbSNP:rs104894118EnsemblClinVar.1
Natural variantiVAR_062970293D → N in POF7; without adrenal failure; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121918655EnsemblClinVar.1
Natural variantiVAR_063258437L → Q in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894120EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links 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

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

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

<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:
EMBLi
GenBanki
DDBJi
Links 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
CCDSiCCDS6856.1
PIRiJC4972
RefSeqiNP_004950.2, NM_004959.4
XP_005251928.1, XM_005251871.3
XP_011516757.1, XM_011518455.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1YOWX-ray3.00A222-461[»]
1ZDTX-ray2.10A/B221-461[»]
4QJRX-ray2.40A218-461[»]
4QK4X-ray2.81A218-461[»]
SMRiQ13285
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi108792, 33 interactors
CORUMiQ13285
IntActiQ13285, 41 interactors
MINTiQ13285
STRINGi9606.ENSP00000362690

Chemistry databases

BindingDBiQ13285
ChEMBLiCHEMBL4666
DrugBankiDB04683 (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE
DB04752 Phosphatidyl ethanol
GuidetoPHARMACOLOGYi632

PTM databases

iPTMnetiQ13285
PhosphoSitePlusiQ13285

Polymorphism and mutation databases

BioMutaiNR5A1
DMDMi3121738

Proteomic databases

MassIVEiQ13285
PaxDbiQ13285
PeptideAtlasiQ13285
PRIDEiQ13285
ProteomicsDBi59276

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2516

Genome annotation databases

EnsembliENST00000373588; ENSP00000362690; ENSG00000136931
GeneIDi2516
KEGGihsa:2516
UCSCiuc004boo.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2516
DisGeNETi2516
EuPathDBiHostDB:ENSG00000136931.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		NR5A1
GeneReviewsiNR5A1
HGNCiHGNC:7983 NR5A1
MalaCardsiNR5A1
MIMi184757 gene
612964 phenotype
612965 phenotype
613957 phenotype
617480 phenotype
neXtProtiNX_Q13285
OpenTargetsiENSG00000136931
Orphaneti243 46,XX gonadal dysgenesis
2138 46,XX ovotesticular disorder of sex development
393 46,XX testicular disorder of sex development
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 NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA31764

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4218 Eukaryota
ENOG410YWC2 LUCA
GeneTreeiENSGT00940000153391
HOGENOMiHOG000063718
InParanoidiQ13285
KOiK08560
OMAiYTCAENQ
OrthoDBi619653at2759
PhylomeDBiQ13285
TreeFamiTF350737

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-4090294 SUMOylation of intracellular receptors
R-HSA-452723 Transcriptional regulation of pluripotent stem cells
SignaLinkiQ13285
SIGNORiQ13285

Miscellaneous databases

EvolutionaryTraceiQ13285

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
PharosiQ13285 Tchem

Protein Ontology

More...PROi		PR:Q13285
RNActiQ13285 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136931 Expressed in 55 organ(s), highest expression level in right adrenal gland cortex
ExpressionAtlasiQ13285 baseline and differential
GenevisibleiQ13285 HS

Family and domain databases

Gene3Di1.10.565.10, 1 hit
3.30.50.10, 1 hit
InterProiView 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
PANTHERiPTHR24086 PTHR24086, 1 hit
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PIRSFiPIRSF002530 Nuc_orph_FTZ-F1, 1 hit
PRINTSiPR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView 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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiSTF1_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>AccessioniPrimary (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 historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: December 11, 2019
This is version 218 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again