Seroatlas · Human Serome Atlas

NR5A1

Steroidogenic factor 1

Also known as: AD4BP, ELP, FTZ1, FTZF1, hSF-1, SF-1, SF1, STF1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13285
Gene
NR5A1
Ensembl
ENSG00000136931
Chromosome
9
Canonical length
461 aa
Protein class
Disease related genes, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

461 residues, UniProt reviewed canonical sequence.

>Q13285|NR5A1
     1  MDYSYDEDLD ELCPVCGDKV SGYHYGLLTC ESCKGFFKRT VQNNKHYTCT ESQSCKIDKT
    61  QRKRCPFCRF QKCLTVGMRL EAVRADRMRG GRNKFGPMYK RDRALKQQKK AQIRANGFKL
   121  ETGPPMGVPP PPPPAPDYVL PPSLHGPEPK GLAAGPPAGP LGDFGAPALP MAVPGAHGPL
   181  AGYLYPAFPG RAIKSEYPEP YASPPQPGLP YGYPEPFSGG PNVPELILQL LQLEPDEDQV
   241  RARILGCLQE PTKSRPDQPA AFGLLCRMAD QTFISIVDWA RRCMVFKELE VADQMTLLQN
   301  CWSELLVFDH IYRQVQHGKE GSILLVTGQE VELTTVATQA GSLLHSLVLR AQELVLQLLA
   361  LQLDRQEFVC LKFIILFSLD LKFLNNHILV KDAQEKANAA LLDYTLCHYP HCGDKFQQLL
   421  LCLVEVRALS MQAKEYLYHK HLGNEMPRNN LLIEMLQAKQ T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NR5A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
182 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 182 nTPM
  • spleen: 137 nTPM
  • ovary: 36 nTPM
  • pituitary gland: 20 nTPM
  • testis: 14 nTPM
  • hypothalamus: 1.1 nTPM

Single-cell type

  • gonadotrophs: 100 nCPM
  • adrenal cortex cells: 90 nCPM
  • leydig cells: 25 nCPM
  • granulosa cells: 24 nCPM
  • ovarian stromal cells: 19 nCPM
  • sertoli cells: 17 nCPM

Immune cell

  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • hypothalamus: 38 nTPM
  • pons: 0.7 nTPM
  • hippocampal formation: 0.4 nTPM
  • amygdala: 0.3 nTPM
  • cerebellum: 0.3 nTPM
  • cerebral cortex: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NR5A1.

Disease | AllUniProt

Conditions NR5A1 is implicated in, by any mechanism.

Disease | GeneticClinVar

132 pathogenic / likely-pathogenic of 362 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.26
gnomAD pLI
0.99
gnomAD missense Z
2.34
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NR5A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NR5A1 as an antibody target. Whether an autoantibody or antibody against NR5A1 could matter depends on whether native NR5A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NR5A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NR5A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NR5A1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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