Seroatlas · Human Serome Atlas

GAB1

GRB2-associated-binding protein 1

Also known as: DFNB26, GAB1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q13480
Gene
GAB1
Ensembl
ENSG00000109458
Chromosome
4
Canonical length
694 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location
Nucleoli fibrillar center,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Canonical amino-acid sequenceUniProt

694 residues, UniProt reviewed canonical sequence.

>Q13480|GAB1
     1  MSGGEVVCSG WLRKSPPEKK LKRYAWKRRW FVLRSGRLTG DPDVLEYYKN DHAKKPIRII
    61  DLNLCQQVDA GLTFNKKEFE NSYIFDINTI DRIFYLVADS EEEMNKWVRC ICDICGFNPT
   121  EEDPVKPPGS SLQAPADLPL AINTAPPSTQ ADSSSATLPP PYQLINVPPH LETLGIQEDP
   181  QDYLLLINCQ SKKPEPTRTH ADSAKSTSSE TDCNDNVPSH KNPASSQSKH GMNGFFQQQM
   241  IYDSPPSRAP SASVDSSLYN LPRSYSHDVL PKVSPSSTEA DGELYVFNTP SGTSSVETQM
   301  RHVSISYDIP PTPGNTYQIP RTFPEGTLGQ TSKLDTIPDI PPPRPPKPHP AHDRSPVETC
   361  SIPRTASDTD SSYCIPTAGM SPSRSNTIST VDLNKLRKDA SSQDCYDIPR AFPSDRSSSL
   421  EGFHNHFKVK NVLTVGSVSS EELDENYVPM NPNSPPRQHS SSFTEPIQEA NYVPMTPGTF
   481  DFSSFGMQVP PPAHMGFRSS PKTPPRRPVP VADCEPPPVD RNLKPDRKVK PAPLEIKPLP
   541  EWEELQAPVR SPITRSFARD SSRFPMSPRP DSVHSTTSSS DSHDSEENYV PMNPNLSSED
   601  PNLFGSNSLD GGSSPMIKPK GDKQVEYLDL DLDSGKSTPP RKQKSSGSGS SVADERVDYV
   661  VVDQQKTLAL KSTREAWTDG RQSTESETPA KSVK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GAB1 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)
0.65
Highest tissue expression
28 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 28 nTPM
  • spinal cord: 21 nTPM
  • rectum: 21 nTPM
  • placenta: 19 nTPM
  • esophagus: 19 nTPM
  • cerebral cortex: 18 nTPM

Single-cell type

  • oligodendrocytes: 1,231 nCPM
  • plasma cells: 745 nCPM
  • cardiomyocytes: 587 nCPM
  • retinal pigment epithelial cells: 371 nCPM
  • myonuclei: 367 nCPM
  • oligodendrocyte progenitor cells: 348 nCPM

Immune cell

  • NK-cell: 4.7 nTPM
  • basophil: 3.8 nTPM
  • neutrophil: 2.3 nTPM
  • plasmacytoid DC: 1.7 nTPM
  • non-classical monocyte: 1.6 nTPM
  • naive B-cell: 1.5 nTPM

Brain region

  • white matter: 275 nTPM
  • basal ganglia: 194 nTPM
  • medulla oblongata: 175 nTPM
  • midbrain: 147 nTPM
  • thalamus: 146 nTPM
  • pons: 138 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GAB1.

Disease | AllUniProt

Conditions GAB1 is implicated in, by any mechanism.

  • Deafness, autosomal recessive, 26 (DFNB26) MIM:605428

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 113 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Autosomal recessive nonsyndromic hearing loss 26

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)
0.44
gnomAD pLI
0.18
gnomAD missense Z
1.56
DepMap mean gene effect
-0.07
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 GAB1 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 GAB1 as an antibody target. Whether an autoantibody or antibody against GAB1 could matter depends on whether native GAB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GAB1 is annotated at the cell surface, where native GAB1 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 GAB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GAB1. 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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