full name
nuclear receptor subfamily 5 group A member 1

synonyms
AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3, NR5A1, ENSG00000136931

HGNC
HGNC:7983

Entrez Gene
Gene:2516

ENSEMBL
ENSG00000136931

location
chr: 9
start: 127243515
stop: 127269769
strand: -

OMIM
OMIM:184757: NR5A1
OMIM:617480: 46, XX sex reversal 4
OMIM:612965: 46XY sex reversal 3
OMIM:612964: Adrenocortical insufficiency
OMIM:612964: Premature ovarian failure 7
OMIM:613957: Spermatogenic failure 8

transcripts
NM_004959.4

pathways
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Nuclear Receptor transcription pathway [NCBI:1269652] [REACTOME:R-HSA-383280]
Transcriptional regulation of pluripotent stem cells [NCBI:1270346] [REACTOME:R-HSA-452723] [PUBMED:17093407] [PUBMED:17204602] [PUBMED:17068183] [PUBMED:22394165] [PUBMED:19128516] [PUBMED:19604364] [PUBMED:23166394] [PUBMED:20300647] [PUBMED:22443931] [PUBMED:22909387] [PUBMED:16153702] [PUBMED:19480567] [PUBMED:18029452] [PUBMED:22122341] [PUBMED:16819296] [PUBMED:12923055] [PUBMED:19755485] [PUBMED:22083510] [PUBMED:17572666] [PUBMED:17183653] [PUBMED:16978057] [PUBMED:16846370] [PUBMED:18923680] [PUBMED:23306458] [PUBMED:15493035] [PUBMED:20207225] [PUBMED:18035408] [PUBMED:20027182] [PUBMED:15110706] [PUBMED:22463982] [PUBMED:21044011] [PUBMED:23248145]