Seroatlas · Human Serome Atlas

SOHLH1

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1

Also known as: bA100C15.3, bHLHe80, C9orf157, NOHLH, SOLH1_HUMAN, SPATA27, TEB2

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

Protein identityUniProt · HPA

UniProt accession
Q5JUK2
Gene
SOHLH1
Ensembl
ENSG00000165643
Chromosome
9
Canonical length
328 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nuclear speckles
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

328 residues, UniProt reviewed canonical sequence.

>Q5JUK2|SOHLH1
     1  MASRCSEPYP EVSRIPTVRG CNGSLSGALS CCEDSARGSG PPKAPTVAEG PSSCLRRNVI
    61  SERERRKRMS LSCERLRALL PQFDGRREDM ASVLEMSVQF LRLASALGPS QEQHAILASS
   121  KEMWHSLQED VLQLTLSSQI QAGVPDPGTG ASSGTRTPDV KAFLESPWSL DPASASPEPV
   181  PHILASSRQW DPASCTSLGT DKCEALLGLC QVRGGLPPFS EPSSLVPWPP GRSLPKAVRP
   241  PLSWPPFSQQ QTLPVMSGEA LGWLGQAGPL AMGAAPLGEP AKEDPMLAQE AGSALGSDVD
   301  DGTSFLLTAG PSSWPGEWGP GFRAGPPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOHLH1 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)
0.67
Highest tissue expression
46 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 46 nTPM
  • testis: 24 nTPM
  • hippocampal formation: 22 nTPM
  • amygdala: 11 nTPM
  • basal ganglia: 5.7 nTPM
  • pituitary gland: 4.1 nTPM

Single-cell type

  • differentiating spermatogonia: 111 nCPM
  • oocytes: 83 nCPM
  • undifferentiated spermatogonia: 58 nCPM
  • early primary spermatocytes: 24 nCPM
  • late primary spermatocytes: 13 nCPM
  • epididymal principal cells: 8.5 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

  • cerebral cortex: 20 nTPM
  • white matter: 14 nTPM
  • pons: 11 nTPM
  • medulla oblongata: 6.5 nTPM
  • hippocampal formation: 5.9 nTPM
  • basal ganglia: 5.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOHLH1.

Disease | AllUniProt

Conditions SOHLH1 is implicated in, by any mechanism.

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 104 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)
0.81
gnomAD pLI
0
gnomAD missense Z
-0.72
DepMap mean gene effect
0
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SOHLH1 as an antibody target. Whether an autoantibody or antibody against SOHLH1 could matter depends on whether native SOHLH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SOHLH1 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 SOHLH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SOHLH1. 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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