LMPD Database

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LMP002759

Record overview

LMPD IDLMP002759
Gene ID2516
SpeciesHomo sapiens (Human)
Gene Namenuclear receptor subfamily 5, group A, member 1
Gene SymbolNR5A1
SynonymsAD4BP; ELP; FTZ1; FTZF1; POF7; SF-1; SF1; SPGF8; SRXY3
Chromosome9
Map Location9q33
SummaryThe protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for NR5A1

Proteins

steroidogenic factor 1
Refseq ID:NP_004950
Protein GI:20070193
UniProt ID:Q13285
mRNA ID:NM_004959
Length:461
RefSeq Status:REVIEWED
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYK
RDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEP
YASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN
CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAA
LLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT