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NR5A1

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GENERAL INFORMATION

Gene name

 NR5A1

Gene description

 Nuclear receptor subfamily 5, group A, member 1

Protein class

 Disease related genes
Nuclear receptors
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Group enriched (HEL, Hep G2, K-562)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (HEL, Hep G2, K-562)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 NR5A1 (HGNC Symbol)

Synonyms

 AD4BP, ELP, FTZ1, FTZF1, SF-1

Description

 Nuclear receptor subfamily 5, group A, member 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 9

Cytoband

 q33.3

Chromosome location (bp)

 124481236 - 124507430

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000136931 (version 83.38)

Entrez gene

 2516

UniProt

 Q13285 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13285

Antibodypedia

 NR5A1 antibodies

PROTEIN BROWSER
NR5A1-001
NR5A1-002
NR5A1-003
NR5A1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NR5A1-001
ENSP00000362690
ENST00000373588
Q13285 [Direct mapping]
Steroidogenic factor 1
F1D8R8 [Target identity:100%; Query identity:100%]
Steroidogenic factor 1 nuclear receptor
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding]
GO:0001553 [luteinization]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003690 [double-stranded DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0003707 [steroid hormone receptor activity]
GO:0003713 [transcription coactivator activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007267 [cell-cell signaling]
GO:0007538 [primary sex determination]
GO:0008270 [zinc ion binding]
GO:0008584 [male gonad development]
GO:0008585 [female gonad development]
GO:0009755 [hormone-mediated signaling pathway]
GO:0009888 [tissue development]
GO:0010259 [multicellular organismal aging]
GO:0010467 [gene expression]
GO:0019899 [enzyme binding]
GO:0022414 [reproductive process]
GO:0030154 [cell differentiation]
GO:0030325 [adrenal gland development]
GO:0030522 [intracellular receptor signaling pathway]
GO:0042445 [hormone metabolic process]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050810 [regulation of steroid biosynthetic process]
GO:0051457 [maintenance of protein location in nucleus]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:2000020 [positive regulation of male gonad development]
GO:2000195 [negative regulation of female gonad development]
Show all
 461 aa
51.6 kDa 		No 0
NR5A1-002
ENSP00000362689
ENST00000373587
Q5T6F7 [Direct mapping]
Steroidogenic factor 1
Show all
Nuclear receptors
Predicted intracellular proteins
Show all
GO:0003677 [DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0043401 [steroid hormone mediated signaling pathway]
Show all
 245 aa
28 kDa 		No 0
NR5A1-003
ENSP00000393245
ENST00000455734
Q5T6F6 [Direct mapping]
Steroidogenic factor 1
Show all
Nuclear receptors
Predicted intracellular proteins
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
Show all
 178 aa
19.5 kDa 		No 0
NR5A1-201
ENSP00000483309
ENST00000620110
F1DAM0 [Direct mapping]
Steroidogenic factor 1; Steroidogenic factor 1 nuclear receptor
Show all
Predicted intracellular proteins
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
Show all
 421 aa
47.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.