NR5A1

GENERAL INFORMATION

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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
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (adrenal gland, ovary, spleen)
GTEx:Group enriched (adrenal gland, ovary, spleen)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (adrenal gland, ovary, spleen)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (adrenal gland, ovary, spleen)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2516

UniProt

Q13285 (UniProt - Evidence at protein level)

neXtProt

NX_Q13285

Antibodypedia

NR5A1 antibodies


PROTEIN BROWSER

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ENST00000373587
 
ENST00000373588
 
ENST00000455734
 
ENST00000620110
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NR5A1-001 ENSP00000362690
ENST00000373588
Q13285
Show all »
Show » Show » 461 51.6 No 0
NR5A1-002 ENSP00000362689
ENST00000373587
Q5T6F7
Show all »
Show » Show » 245 28 No 0
NR5A1-003 ENSP00000393245
ENST00000455734
Q5T6F6
Show all »
Show » Show » 178 19.5 No 0
NR5A1-201 ENSP00000483309
ENST00000620110
F1DAM0
Show all »
Show » Show » 421 47.1 No 0