NR5A1
entrez
2516
canonical
uniprot
Q13285
canonical
ensembl
ENSG00000136931
resolver
ensp
ENSP00000362690
resolver
ensp
ENSP00000581746
resolver
ensp
ENSP00000620443
resolver
ensp
ENSP00000620445
resolver
ensp
ENSP00000620446
resolver
ensp
ENSP00000620447
resolver
ensp
ENSP00000620448
resolver
ensp
ENSP00000620449
resolver
ensp
ENSP00000620451
resolver
enst
ENST00000373588
resolver
enst
ENST00000911688
resolver
enst
ENST00000950384
resolver
enst
ENST00000950386
resolver
enst
ENST00000950387
resolver
enst
ENST00000950388
resolver
enst
ENST00000950389
resolver
enst
ENST00000950390
resolver
enst
ENST00000950392
resolver
genesymbol
NR5A1
resolver
genesymbol_syn
AD4BP
resolver
genesymbol_syn
FTZF1
resolver
genesymbol_syn
SF1
resolver
hgnc
HGNC:7983
resolver
uniprot
F1D8R8
resolver
uniprot
O15196
resolver
uniprot
Q5T6F5
resolver
uniprot_entry
F1D8R8_HUMAN
resolver
uniprot_entry
STF1_HUMAN
resolver
uniprot_sec
O15196
resolver
uniprot_sec
Q5T6F5
resolver
amino_acid_sequence
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT
uniprot
proteins
disease_involvement
DISEASE: 46,XY sex reversal 3 (SRXY3) [MIM:612965]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269|PubMed:10369247, ECO:0000269|PubMed:11932325, ECO:0000269|PubMed:17200175, ECO:0000269|PubMed:17694559, ECO:0000269|PubMed:22028768, ECO:0000269|PubMed:24405868, ECO:0000269|PubMed:25122490, ECO:0000269|PubMed:27169744, ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:28459839, ECO:0000269|PubMed:30425642, ECO:0000269|PubMed:39623453}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 46,XX sex reversal 4 (SRXX4) [MIM:617480]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:27610946, ECO:0000269|PubMed:27855412}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964]: A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. {ECO:0000269|PubMed:11038323, ECO:0000269|PubMed:26523528}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Premature ovarian failure 7 (POF7) [MIM:612964]: An 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. {ECO:0000269|PubMed:19246354}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spermatogenic failure 8 (SPGF8) [MIM:613957]: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. {ECO:0000269|PubMed:20887963}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250|UniProtKB:P33242, ECO:0000269|PubMed:17210646, ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:28459839}.
uniprot
proteins
mass_dalton
51636
uniprot
proteins
mutagenesis
MUTAGEN 39; /note="R->P: Decreased transcription activator activity."; /evidence="ECO:0000269|PubMed:22028768"; MUTAGEN 119; /note="K->R: Loss of sumoylation; when associated with R-194."; /evidence="ECO:0000269|PubMed:15192080"; MUTAGEN 194; /note="K->R: Loss of sumoylation."; /evidence="ECO:0000269|PubMed:15192080"; MUTAGEN 269; /note="A->F: Strongly reduced transactivation."; /evidence="ECO:0000269|PubMed:15897460"; MUTAGEN 341; /note="G->E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344."; /evidence="ECO:0000269|PubMed:15897460"; MUTAGEN 344; /note="L->F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341."; /evidence="ECO:0000269|PubMed:15897460"; MUTAGEN 433; /note="A->F: Strongly reduced transactivation."; /evidence="ECO:0000269|PubMed:15897460"; MUTAGEN 436; /note="Y->F: Loss of transactivation; when associated with A-440."; /evidence="ECO:0000269|PubMed:15897460"; MUTAGEN 440; /note="K->A: Loss of transactivation; when associated with F-436."; /evidence="ECO:0000269|PubMed:15897460
uniprot
proteins
post_translational_modification
PTM: Acetylation stimulates the transcriptional activity. {ECO:0000269|PubMed:11479297}.; PTM: Sumoylation reduces CDK7-mediated phosphorylation on Ser-203. {ECO:0000269|PubMed:15192080, ECO:0000269|PubMed:19015234}.; PTM: Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity. {ECO:0000269|PubMed:10230405, ECO:0000269|PubMed:17901130, ECO:0000269|PubMed:19015234}.
uniprot
proteins
protein_family
NR5 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10230405
uniprot
proteins
pubmed
10369247
uniprot
proteins
pubmed
11038323
uniprot
proteins
pubmed
11479297
uniprot
proteins
pubmed
11897684
uniprot
proteins
pubmed
11932325
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15192080
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15707893
uniprot
proteins
pubmed
15897460
uniprot
proteins
pubmed
17200175
uniprot
proteins
pubmed
17210646
uniprot
proteins
pubmed
17664281
uniprot
proteins
pubmed
17694559
uniprot
proteins
pubmed
17901130
uniprot
proteins
pubmed
19015234
uniprot
proteins
pubmed
19246354
uniprot
proteins
pubmed
20887963
uniprot
proteins
pubmed
22028768
uniprot
proteins
pubmed
24405868
uniprot
proteins
pubmed
25122490
uniprot
proteins
pubmed
26523528
uniprot
proteins
pubmed
27169744
uniprot
proteins
pubmed
27378692
uniprot
proteins
pubmed
27490115
uniprot
proteins
pubmed
27610946
uniprot
proteins
pubmed
27855412
uniprot
proteins
pubmed
28459839
uniprot
proteins
pubmed
30425642
uniprot
proteins
pubmed
39623453
uniprot
proteins
pubmed
8806624
uniprot
proteins
pubmed
8938589
uniprot
proteins
pubmed
9177385
uniprot
proteins
sequence_length
461
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:11479297, ECO:0000269|PubMed:27490115}.
uniprot
proteins