Seroatlas · Human Serome Atlas

VANGL1

Vang-like protein 1

Also known as: STB2, VANG1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8TAA9
Gene
VANGL1
Ensembl
ENSG00000173218
Chromosome
1
Canonical length
524 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

524 residues, UniProt reviewed canonical sequence.

>Q8TAA9|VANGL1
     1  MDTESTYSGY SYYSSHSKKS HRQGERTRER HKSPRNKDGR GSEKSVTIQP PTGEPLLGND
    61  STRTEEVQDD NWGETTTAIT GTSEHSISQE DIARISKDME DSVGLDCKRY LGLTVASFLG
   121  LLVFLTPIAF ILLPPILWRD ELEPCGTICE GLFISMAFKL LILLIGTWAL FFRKRRADMP
   181  RVFVFRALLL VLIFLFVVSY WLFYGVRILD SRDRNYQGIV QYAVSLVDAL LFIHYLAIVL
   241  LELRQLQPMF TLQVVRSTDG ESRFYSLGHL SIQRAALVVL ENYYKDFTIY NPNLLTASKF
   301  RAAKHMAGLK VYNVDGPSNN ATGQSRAMIA AAARRRDSSH NELYYEEAEH ERRVKKRKAR
   361  LVVAVEEAFI HIQRLQAEEQ QKAPGEVMDP REAAQAIFPS MARALQKYLR ITRQQNYHSM
   421  ESILQHLAFC ITNGMTPKAF LERYLSAGPT LQYDKDRWLS TQWRLVSDEA VTNGLRDGIV
   481  FVLKCLDFSL VVNVKKIPFI ILSEEFIDPK SHKFVLRLQS ETSV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VANGL1 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
4
Mean surface accessibility (rSASA)
0.42
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 11 nTPM
  • esophagus: 9.7 nTPM
  • cervix: 8.6 nTPM
  • thyroid gland: 7.1 nTPM
  • smooth muscle: 6.8 nTPM
  • thymus: 6.8 nTPM

Single-cell type

  • late spermatids: 84 nCPM
  • megakaryocyte progenitors: 60 nCPM
  • late primary spermatocytes: 55 nCPM
  • cone photoreceptor cells: 37 nCPM
  • endometrial ciliated cells: 35 nCPM
  • fallopian tube ciliated cells: 32 nCPM

Immune cell

  • NK-cell: 6.2 nTPM
  • T-reg: 3 nTPM
  • myeloid DC: 2.3 nTPM
  • plasmacytoid DC: 2.1 nTPM
  • naive CD8 T-cell: 2 nTPM
  • gdT-cell: 1.9 nTPM

Brain region

  • thalamus: 15 nTPM
  • choroid plexus: 7.4 nTPM
  • midbrain: 7.2 nTPM
  • amygdala: 5.6 nTPM
  • pons: 4.6 nTPM
  • hypothalamus: 3.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VANGL1.

Disease | AllUniProt

Conditions VANGL1 is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 304 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neural tube defects, susceptibility to
  • Sacral defect with anterior meningocele

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)
0.6
gnomAD pLI
0.02
gnomAD missense Z
0.02
DepMap mean gene effect
-0.03
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VANGL1 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 VANGL1 as an antibody target. Whether an autoantibody or antibody against VANGL1 could matter depends on whether native VANGL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VANGL1 is annotated at the cell surface, where native VANGL1 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 VANGL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/VANGL1. 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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