Seroatlas · Human Serome Atlas

USH1G

pre-mRNA splicing regulator USH1G

Also known as: ANKS4A, FLJ33924, Sans, USH1G_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q495M9
Gene
USH1G
Ensembl
ENSG00000182040
Chromosome
17
Canonical length
461 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Canonical amino-acid sequenceUniProt

461 residues, UniProt reviewed canonical sequence.

>Q495M9|USH1G
     1  MNDQYHRAAR DGYLELLKEA TRKELNAPDE DGMTPTLWAA YHGNLESLRL IVSRGGDPDK
    61  CDIWGNTPLH LAASNGHLHC LSFLVSFGAN IWCLDNDYHT PLDMAAMKGH MECVRYLDSI
   121  AAKQSSLNPK LVGKLKDKAF REAERRIREC AKLQRRHHER MERRYRRELA ERSDTLSFSS
   181  LTSSTLSRRL QHLALGSHLP YSQATLHGTA RGKTKMQKKL ERRKQGGEGT FKVSEDGRKS
   241  ARSLSGLQLG SDVMFVRQGT YANPKEWGRA PLRDMFLSDE DSVSRATLAA EPAHSEVSTD
   301  SGHDSLFTRP GLGTMVFRRN YLSSGLHGLG REDGGLDGVG APRGRLQSSP SLDDDSLGSA
   361  NSLQDRSCGE ELPWDELDLG LDEDLEPETS PLETFLASLH MEDFAALLRQ EKIDLEALML
   421  CSDLDLRSIS VPLGPRKKIL GAVRRRRQAM ERPPALEDTE L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against USH1G 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
7.5 nTPM

Expression across tissuesHPA

Tissue

  • esophagus: 7.5 nTPM
  • skin: 2.7 nTPM
  • epididymis: 1.8 nTPM
  • testis: 1.7 nTPM
  • endometrium: 1 nTPM
  • adrenal gland: 0.9 nTPM

Single-cell type

  • late spermatids: 41 nCPM
  • müller glia: 12 nCPM
  • early spermatids: 11 nCPM
  • esophageal apical cells: 10 nCPM
  • esophageal suprabasal cells: 7.6 nCPM
  • suprabasal keratinocytes: 4.8 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

  • cerebellum: 3.3 nTPM
  • hypothalamus: 2 nTPM
  • basal ganglia: 1.2 nTPM
  • white matter: 1.2 nTPM
  • amygdala: 1.1 nTPM
  • cerebral cortex: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about USH1G.

Disease | AllUniProt

Conditions USH1G is implicated in, by any mechanism.

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 492 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)
1.09
gnomAD pLI
0
gnomAD missense Z
0.63
DepMap mean gene effect
-0.16
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 USH1G 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 USH1G as an antibody target. Whether an autoantibody or antibody against USH1G could matter depends on whether native USH1G is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

USH1G is annotated at the cell surface, where native USH1G is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label USH1G as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/USH1G. 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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