Gene/Proteome Database (LMPD)

LMPD ID
LMP002759
Gene ID
2516
Species
Homo sapiens (Human)
Gene Name
nuclear receptor subfamily 5, group A, member 1
Gene Symbol
NR5A1
Synonyms
AD4BP; ELP; FTZ1; FTZF1; POF7; SF-1; SF1; SPGF8; SRXY3
Chromosome
9
Map Location
9q33
Summary
The 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]
Orthologs
View 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
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT

Gene Information

Entrez Gene ID
2516
Gene Name
nuclear receptor subfamily 5, group A, member 1
Gene Symbol
NR5A1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005634 IEA:UniProtKB-KW C nucleus
GO:0003682 IEA:Ensembl F chromatin binding
GO:0003690 IEA:Ensembl F double-stranded DNA binding
GO:0043565 IEA:InterPro F sequence-specific DNA binding
GO:0003700 IEA:InterPro F sequence-specific DNA binding transcription factor activity
GO:0003707 IEA:InterPro F steroid hormone receptor activity
GO:0008270 IEA:InterPro F zinc ion binding
GO:0030325 IEA:Ensembl P adrenal gland development
GO:0030154 IEA:Ensembl P cell differentiation
GO:0042445 IEA:Ensembl P hormone metabolic process
GO:0001553 IEA:Ensembl P luteinization
GO:0051457 IEA:Ensembl P maintenance of protein location in nucleus
GO:0008584 IEA:Ensembl P male gonad development
GO:0010259 IEA:Ensembl P multicellular organismal aging
GO:2000195 IEA:Ensembl P negative regulation of female gonad development
GO:2000020 IEA:Ensembl P positive regulation of male gonad development
GO:0045944 IEA:Ensembl P positive regulation of transcription from RNA polymerase II promoter
GO:0009888 IEA:Ensembl P tissue development
GO:0006366 IEA:Ensembl P transcription from RNA polymerase II promoter

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_200812 Transcriptional regulation of pluripotent stem cells

Domain Information

InterPro Annotations

Accession Description
IPR008946 Nuclear hormone receptor, ligand-binding
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001723 Steroid hormone receptor
IPR016355 Steroidogenic_factor_1
IPR013088 Zinc finger, NHR/GATA-type
IPR001628 Zinc finger, nuclear hormone receptor-type

UniProt Annotations

Entry Information

Gene Name
nuclear receptor subfamily 5, group A, member 1
Protein Entry
STF1_HUMAN
UniProt ID
Q13285
Species
Human

Comments

Comment Type Description
Similarity Belongs to the nuclear hormone receptor family.
Similarity Contains nuclear receptor DNA-binding domain.

Identical and Related Proteins

Unique RefSeq proteins for LMP002759 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
20070193 RefSeq NP_004950 461 steroidogenic factor 1

Identical Sequences to LMP002759 proteins

Reference Database Accession Length Protein Name
GI:20070193 DBBJ BAG73459.1 461 nuclear receptor subfamily 5, group A, member 1, partial [synthetic construct]
GI:20070193 GenBank ADZ15404.1 461 nuclear receptor subfamily 5, group A, member 1, partial [synthetic construct]
GI:20070193 GenBank ADZ17367.1 461 steroidogenic factor 1 nuclear receptor [Homo sapiens]
GI:20070193 GenBank AHD69583.1 461 Sequence 597 from patent US 8586006
GI:20070193 GenBank AIC48791.1 461 NR5A1, partial [synthetic construct]
GI:20070193 RefSeq XP_005251928.1 461 PREDICTED: steroidogenic factor 1 isoform X1 [Homo sapiens]

Related Sequences to LMP002759 proteins

Reference Database Accession Length Protein Name
GI:20070193 DBBJ BAA13546.1 461 AdBP4 [Homo sapiens]
GI:20070193 DBBJ BAH02309.1 461 steroidogenic factor-1 [Homo sapiens]
GI:20070193 GenBank ACM84206.1 466 Sequence 9704 from patent US 6812339
GI:20070193 RefSeq XP_003264167.1 461 PREDICTED: steroidogenic factor 1 [Nomascus leucogenys]
GI:20070193 RefSeq XP_003808107.1 461 PREDICTED: steroidogenic factor 1 isoform X1 [Pan paniscus]
GI:20070193 RefSeq XP_005580855.1 461 PREDICTED: steroidogenic factor 1 isoform X1 [Macaca fascicularis]