UniProtKB - Q13285 (STF1_HUMAN)
Protein
Steroidogenic factor 1
Gene
NR5A1
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Binding sitei | 341 | Lipid headgroup; via amide nitrogen | 1 | |
| Binding sitei | 436 | Lipid headgroup | 1 | |
| Binding sitei | 440 | Lipid headgroup | 1 |
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| DNA bindingi | 10 – 85 | Nuclear receptorPROSITE-ProRule annotationAdd BLAST | 76 | |
| Zinc fingeri | 13 – 33 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 21 | |
| Zinc fingeri | 49 – 73 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- chromatin binding Source: BHF-UCL
- DNA binding Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- enzyme binding Source: UniProtKB
- nuclear receptor activity Source: ParkinsonsUK-UCL
- phospholipid binding Source: UniProtKB
- RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
- RNA polymerase II regulatory region sequence-specific DNA binding Source: ParkinsonsUK-UCL
- sequence-specific DNA binding Source: UniProtKB
- steroid hormone receptor activity Source: InterPro
- transcription coactivator activity Source: ProtInc
- transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: UniProtKB
- transcription regulatory region sequence-specific DNA binding Source: GO_Central
- zinc ion binding Source: InterPro
GO - Biological processi
- adrenal gland development Source: Ensembl
- calcineurin-mediated signaling Source: Ensembl
- cell differentiation Source: Ensembl
- female gonad development Source: UniProtKB
- 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
- male sex determination Source: BHF-UCL
- multicellular organism aging Source: Ensembl
- negative regulation of female gonad development Source: Ensembl
- positive regulation of gene expression Source: UniProtKB
- positive regulation of male gonad development Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- primary sex determination Source: ProtInc
- regulation of steroid biosynthetic process Source: UniProtKB
- response to gonadotropin-releasing hormone Source: Ensembl
- sex determination Source: UniProtKB
- tissue development Source: GO_Central
- transcription initiation from RNA polymerase II promoter Source: Reactome
Keywordsi
| Molecular function | Activator, DNA-binding, Receptor |
| Biological process | Transcription, Transcription regulation |
| Ligand | Lipid-binding, Metal-binding, Zinc |
Enzyme and pathway databases
| Reactomei | R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-4090294 SUMOylation of intracellular receptors R-HSA-452723 Transcriptional regulation of pluripotent stem cells |
| SignaLinki | Q13285 |
| SIGNORi | Q13285 |
Names & Taxonomyi
| Protein namesi | Recommended name: Steroidogenic factor 1Short 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 |
| Gene namesi | Name:NR5A1 Synonyms:AD4BP, FTZF1, SF1 |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| EuPathDBi | HostDB:ENSG00000136931.9 |
| HGNCi | HGNC:7983 NR5A1 |
| MIMi | 184757 gene |
| neXtProti | NX_Q13285 |
Pathology & Biotechi
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.
See also OMIM:612965| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_063255 | 15 | V → M in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894124EnsemblClinVar. | 1 | |
| Natural variantiVAR_079571 | 18 – 22 | Missing in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication | 5 | |
| Natural variantiVAR_039106 | 33 | C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication | 1 | |
| Natural variantiVAR_004737 | 35 | G → E in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs121918654EnsemblClinVar. | 1 | |
| Natural variantiVAR_079572 | 40 | T → P in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication | 1 | |
| Natural variantiVAR_078136 | 65 | C → Y in SRXY3; without adrenal failure. 1 Publication | 1 | |
| Natural variantiVAR_063256 | 78 | M → I in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894125EnsemblClinVar. | 1 | |
| Natural variantiVAR_039107 | 84 | R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs375469069Ensembl. | 1 | |
| Natural variantiVAR_063257 | 91 | G → S in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894126EnsemblClinVar. | 1 | |
| Natural variantiVAR_016982 | 92 | R → Q in SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location. 4 PublicationsCorresponds to variant dbSNP:rs104894119EnsemblClinVar. | 1 | |
| Natural variantiVAR_063258 | 437 | L → 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).
See also OMIM:617480Adrenal 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.
See also OMIM:612964| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_016983 | 255 | R → 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.
See also OMIM:612964| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_062969 | 231 – 233 | Missing in POF7. 1 Publication | 3 | |
| Natural variantiVAR_062970 | 293 | D → 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.
See also OMIM:613957| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_065866 | 131 | P → L in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs387906690EnsemblClinVar. | 1 | |
| Natural variantiVAR_065867 | 191 | R → C in SPGF8; impairs transactivational activity. 1 Publication | 1 | |
| Natural variantiVAR_065868 | 212 | G → S in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs201095702EnsemblClinVar. | 1 | |
| Natural variantiVAR_065869 | 238 | D → N in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs780568525Ensembl. | 1 |
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Mutagenesisi | 119 | K → R: Loss of sumoylation; when associated with R-194. 1 Publication | 1 | |
| Mutagenesisi | 194 | K → R: Loss of sumoylation. 1 Publication | 1 | |
| Mutagenesisi | 269 | A → F: Strongly reduced transactivation. 1 Publication | 1 | |
| Mutagenesisi | 341 | G → E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344. 1 Publication | 1 | |
| Mutagenesisi | 344 | L → F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341. 1 Publication | 1 | |
| Mutagenesisi | 433 | A → F: Strongly reduced transactivation. 1 Publication | 1 | |
| Mutagenesisi | 436 | Y → F: Loss of transactivation; when associated with A-440. 1 Publication | 1 | |
| Mutagenesisi | 440 | K → A: Loss of transactivation; when associated with F-436. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Premature ovarian failureOrganism-specific databases
| DisGeNETi | 2516 |
| GeneReviewsi | NR5A1 |
| MalaCardsi | NR5A1 |
| MIMi | 612964 phenotype 612965 phenotype 613957 phenotype 617480 phenotype |
| OpenTargetsi | ENSG00000136931 |
| 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 |
| PharmGKBi | PA31764 |
Chemistry databases
| ChEMBLi | CHEMBL4666 |
| DrugBanki | DB04752 Phosphatidyl ethanol |
Polymorphism and mutation databases
| BioMutai | NR5A1 |
| DMDMi | 3121738 |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| ChainiPRO_0000053729 | 1 – 461 | Steroidogenic factor 1Add BLAST | 461 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Modified residuei | 34 | N6-acetyllysine1 Publication | 1 | |
| Modified residuei | 38 | N6-acetyllysine1 Publication | 1 | |
| Modified residuei | 72 | N6-acetyllysine1 Publication | 1 | |
| Cross-linki | 119 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
| Cross-linki | 194 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
| Modified residuei | 203 | Phosphoserine; by CDK73 Publications | 1 |
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 conjugationProteomic databases
| PaxDbi | Q13285 |
| PeptideAtlasi | Q13285 |
| PRIDEi | Q13285 |
| ProteomicsDBi | 59276 |
PTM databases
| iPTMneti | Q13285 |
| PhosphoSitePlusi | Q13285 |
Expressioni
Tissue specificityi
High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385).1 Publication
Gene expression databases
| Bgeei | ENSG00000136931 Expressed in 55 organ(s), highest expression level in right adrenal gland cortex |
| CleanExi | HS_NR5A1 HS_SF1 |
| ExpressionAtlasi | Q13285 baseline and differential |
| Genevisiblei | Q13285 HS |
Interactioni
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
Binary interactionsi
GO - Molecular functioni
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
| BioGridi | 108792, 26 interactors |
| IntActi | Q13285, 41 interactors |
| MINTi | Q13285 |
| STRINGi | 9606.ENSP00000362690 |
Chemistry databases
| BindingDBi | Q13285 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
| ProteinModelPortali | Q13285 |
| SMRi | Q13285 |
| ModBasei | Search... |
| MobiDBi | Search... |
Miscellaneous databases
| EvolutionaryTracei | Q13285 |
Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Domaini | 222 – 459 | NR LBDPROSITE-ProRule annotationAdd BLAST | 238 |
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Regioni | 230 – 461 | Important for dimerizationAdd BLAST | 232 |
Sequence similaritiesi
Zinc finger
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Zinc fingeri | 13 – 33 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 21 | |
| Zinc fingeri | 49 – 73 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
| eggNOGi | KOG4218 Eukaryota ENOG410YWC2 LUCA |
| GeneTreei | ENSGT00870000136388 |
| HOGENOMi | HOG000063718 |
| HOVERGENi | HBG106677 |
| InParanoidi | Q13285 |
| KOi | K08560 |
| OMAi | LQEPAKG |
| OrthoDBi | EOG091G06RK |
| PhylomeDBi | Q13285 |
| TreeFami | TF350737 |
Family and domain databases
| Gene3Di | 3.30.50.10, 1 hit |
| 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 |
| PANTHERi | PTHR24086 PTHR24086, 1 hit |
| Pfami | View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit |
| PIRSFi | PIRSF002530 Nuc_orph_FTZ-F1, 1 hit |
| PRINTSi | PR00398 STRDHORMONER PR00047 STROIDFINGER |
| SMARTi | View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit |
| SUPFAMi | SSF48508 SSF48508, 1 hit |
| PROSITEi | View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit |
Sequence (1+)i
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
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket| F1DAM0 | F1DAM0_HUMAN | Steroidogenic factor 1 nuclear rece... | NR5A1 | 421 | Annotation score: | ||
| Q5T6F7 | Q5T6F7_HUMAN | Steroidogenic factor 1 | NR5A1 | 245 | Annotation score: | ||
| Q5T6F6 | Q5T6F6_HUMAN | Steroidogenic factor 1 | NR5A1 | 177 | Annotation score: |
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sequence conflicti | 63 | K → N in BAA13546 (PubMed:8806624).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_063255 | 15 | V → M in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894124EnsemblClinVar. | 1 | |
| Natural variantiVAR_079571 | 18 – 22 | Missing in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication | 5 | |
| Natural variantiVAR_039106 | 33 | C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication | 1 | |
| Natural variantiVAR_004737 | 35 | G → E in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs121918654EnsemblClinVar. | 1 | |
| Natural variantiVAR_079572 | 40 | T → P in SRXY3; loss of DNA-binding; significantly decreased transactivator activity. 1 Publication | 1 | |
| Natural variantiVAR_078136 | 65 | C → Y in SRXY3; without adrenal failure. 1 Publication | 1 | |
| Natural variantiVAR_063256 | 78 | M → I in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894125EnsemblClinVar. | 1 | |
| Natural variantiVAR_039107 | 84 | R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs375469069Ensembl. | 1 | |
| Natural variantiVAR_063257 | 91 | G → S in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894126EnsemblClinVar. | 1 | |
| Natural variantiVAR_016982 | 92 | R → Q in SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location. 4 PublicationsCorresponds to variant dbSNP:rs104894119EnsemblClinVar. | 1 | |
| 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 PublicationsCorresponds to variant dbSNP:rs886039769EnsemblClinVar. | 1 | |
| Natural variantiVAR_062967 | 123 | G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs200163795EnsemblClinVar. | 1 | |
| Natural variantiVAR_062968 | 129 | P → L in SPGF8 and POF7; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs200749741EnsemblClinVar. | 1 | |
| Natural variantiVAR_065866 | 131 | P → L in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs387906690EnsemblClinVar. | 1 | |
| Natural variantiVAR_039108 | 146 | G → A2 PublicationsCorresponds to variant dbSNP:rs1110061EnsemblClinVar. | 1 | |
| Natural variantiVAR_065867 | 191 | R → C in SPGF8; impairs transactivational activity. 1 Publication | 1 | |
| Natural variantiVAR_065868 | 212 | G → S in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs201095702EnsemblClinVar. | 1 | |
| Natural variantiVAR_062969 | 231 – 233 | Missing in POF7. 1 Publication | 3 | |
| Natural variantiVAR_065869 | 238 | D → N in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs780568525Ensembl. | 1 | |
| Natural variantiVAR_016983 | 255 | R → L in AINR. 1 PublicationCorresponds to variant dbSNP:rs104894118EnsemblClinVar. | 1 | |
| Natural variantiVAR_062970 | 293 | D → N in POF7; without adrenal failure; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121918655EnsemblClinVar. | 1 | |
| Natural variantiVAR_063258 | 437 | L → Q in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant dbSNP:rs104894120EnsemblClinVar. | 1 |
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 |
| CCDSi | CCDS6856.1 |
| PIRi | JC4972 |
| RefSeqi | NP_004950.2, NM_004959.4 XP_005251928.1, XM_005251871.3 XP_011516757.1, XM_011518455.2 |
| UniGenei | Hs.495108 |
Genome annotation databases
| Ensembli | ENST00000373588; ENSP00000362690; ENSG00000136931 |
| GeneIDi | 2516 |
| KEGGi | hsa:2516 |
| UCSCi | uc004boo.2 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
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 |
| CCDSi | CCDS6856.1 |
| PIRi | JC4972 |
| RefSeqi | NP_004950.2, NM_004959.4 XP_005251928.1, XM_005251871.3 XP_011516757.1, XM_011518455.2 |
| UniGenei | Hs.495108 |
3D structure databases
| Select the link destinations: PDBei RCSB PDBi PDBji Links 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 | [»] | |
| ProteinModelPortali | Q13285 | |||||
| SMRi | Q13285 | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Protein-protein interaction databases
| BioGridi | 108792, 26 interactors |
| IntActi | Q13285, 41 interactors |
| MINTi | Q13285 |
| STRINGi | 9606.ENSP00000362690 |
Chemistry databases
| BindingDBi | Q13285 |
| ChEMBLi | CHEMBL4666 |
| DrugBanki | DB04752 Phosphatidyl ethanol |
PTM databases
| iPTMneti | Q13285 |
| PhosphoSitePlusi | Q13285 |
Polymorphism and mutation databases
| BioMutai | NR5A1 |
| DMDMi | 3121738 |
Proteomic databases
| PaxDbi | Q13285 |
| PeptideAtlasi | Q13285 |
| PRIDEi | Q13285 |
| ProteomicsDBi | 59276 |
Protocols and materials databases
| DNASUi | 2516 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
| Ensembli | ENST00000373588; ENSP00000362690; ENSG00000136931 |
| GeneIDi | 2516 |
| KEGGi | hsa:2516 |
| UCSCi | uc004boo.2 human |
Organism-specific databases
| CTDi | 2516 |
| DisGeNETi | 2516 |
| EuPathDBi | HostDB:ENSG00000136931.9 |
| GeneCardsi | NR5A1 |
| GeneReviewsi | NR5A1 |
| HGNCi | HGNC:7983 NR5A1 |
| MalaCardsi | NR5A1 |
| MIMi | 184757 gene 612964 phenotype 612965 phenotype 613957 phenotype 617480 phenotype |
| neXtProti | NX_Q13285 |
| OpenTargetsi | ENSG00000136931 |
| 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 |
| PharmGKBi | PA31764 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | KOG4218 Eukaryota ENOG410YWC2 LUCA |
| GeneTreei | ENSGT00870000136388 |
| HOGENOMi | HOG000063718 |
| HOVERGENi | HBG106677 |
| InParanoidi | Q13285 |
| KOi | K08560 |
| OMAi | LQEPAKG |
| OrthoDBi | EOG091G06RK |
| PhylomeDBi | Q13285 |
| TreeFami | TF350737 |
Enzyme and pathway databases
| Reactomei | R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-4090294 SUMOylation of intracellular receptors R-HSA-452723 Transcriptional regulation of pluripotent stem cells |
| SignaLinki | Q13285 |
| SIGNORi | Q13285 |
Miscellaneous databases
| EvolutionaryTracei | Q13285 |
| GeneWikii | Steroidogenic_factor_1 |
| GenomeRNAii | 2516 |
| PROi | PR:Q13285 |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000136931 Expressed in 55 organ(s), highest expression level in right adrenal gland cortex |
| CleanExi | HS_NR5A1 HS_SF1 |
| ExpressionAtlasi | Q13285 baseline and differential |
| Genevisiblei | Q13285 HS |
Family and domain databases
| Gene3Di | 3.30.50.10, 1 hit |
| 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 |
| PANTHERi | PTHR24086 PTHR24086, 1 hit |
| Pfami | View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit |
| PIRSFi | PIRSF002530 Nuc_orph_FTZ-F1, 1 hit |
| PRINTSi | PR00398 STRDHORMONER PR00047 STROIDFINGER |
| SMARTi | View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit |
| SUPFAMi | SSF48508 SSF48508, 1 hit |
| PROSITEi | View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit |
| ProtoNeti | Search... |
Entry informationi
| Entry namei | STF1_HUMAN | |
| Accessioni | Q13285Primary (citable) accession number: Q13285 Secondary accession number(s): O15196, Q5T6F5 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
| Last sequence update: | January 1, 1998 | |
| Last modified: | November 7, 2018 | |
| This is version 208 of the entry and version 2 of the sequence. See complete history. | ||
| 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. | |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - 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 - Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM
