Seroatlas · Human Serome Atlas

NR0B1

Nuclear receptor subfamily 0 group B member 1

Also known as: AHC, AHCH, DAX1, DSS, NR0B1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P51843
Gene
NR0B1
Ensembl
ENSG00000169297
Chromosome
X
Canonical length
470 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Nuclear receptors, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location
Nuclear speckles,Vesicles,Centriolar satellite
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

470 residues, UniProt reviewed canonical sequence.

>P51843|NR0B1
     1  MAGENHQWQG SILYNMLMSA KQTRAAPEAP ETRLVDQCWG CSCGDEPGVG REGLLGGRNV
    61  ALLYRCCFCG KDHPRQGSIL YSMLTSAKQT YAAPKAPEAT LGPCWGCSCG SDPGVGRAGL
   121  PGGRPVALLY RCCFCGEDHP RQGSILYSLL TSSKQTHVAP AAPEARPGGA WWDRSYFAQR
   181  PGGKEALPGG RATALLYRCC FCGEDHPQQG STLYCVPTST NQAQAAPEER PRAPWWDTSS
   241  GALRPVALKS PQVVCEAASA GLLKTLRFVK YLPCFQVLPL DQQLVLVRNC WASLLMLELA
   301  QDRLQFETVE VSEPSMLQKI LTTRRRETGG NEPLPVPTLQ HHLAPPAEAR KVPSASQVQA
   361  IKCFLSKCWS LNISTKEYAY LKGTVLFNPD VPGLQCVKYI QGLQWGTQQI LSEHTRMTHQ
   421  GPHDRFIELN STLFLLRFIN ANVIAELFFR PIIGTVSMDD MMLEMLCTKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NR0B1 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)
0.46
Highest tissue expression
35 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 35 nTPM
  • testis: 20 nTPM
  • ovary: 3.3 nTPM
  • cervix: 3.1 nTPM
  • pituitary gland: 2.6 nTPM
  • pancreas: 2 nTPM

Single-cell type

  • adrenal cortex cells: 59 nCPM
  • sertoli cells: 48 nCPM
  • gonadotrophs: 22 nCPM
  • pancreatic islet cells: 21 nCPM
  • oligodendrocyte progenitor cells: 19 nCPM
  • epididymal efferent duct ciliated cells: 12 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • hypothalamus: 11 nTPM
  • thalamus: 1.6 nTPM
  • amygdala: 1.5 nTPM
  • white matter: 1.5 nTPM
  • medulla oblongata: 1.4 nTPM
  • midbrain: 1.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NR0B1.

Disease | AllUniProt

Conditions NR0B1 is implicated in, by any mechanism.

Disease | GeneticClinVar

129 pathogenic / likely-pathogenic of 430 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)
0.28
gnomAD pLI
0.97
gnomAD missense Z
1.08
DepMap mean gene effect
0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 NR0B1 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 NR0B1 as an antibody target. Whether an autoantibody or antibody against NR0B1 could matter depends on whether native NR0B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NR0B1 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 NR0B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NR0B1. 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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