Seroatlas · Human Serome Atlas

EXT1

Exostosin-1

Also known as: EXT1_HUMAN, LGCR, LGS, ttv

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

Protein identityUniProt · HPA

UniProt accession
Q16394
Gene
EXT1
Ensembl
ENSG00000182197
Chromosome
8
Canonical length
746 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

746 residues, UniProt reviewed canonical sequence.

>Q16394|EXT1
     1  MQAKKRYFIL LSAGSCLALL FYFGGLQFRA SRSHSRREEH SGRNGLHHPS PDHFWPRFPD
    61  ALRPFVPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM ESCFDFTLCK KNGFKVYVYP
   121  QQKGEKIAES YQNILAAIEG SRFYTSDPSQ ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS
   181  LHLWNNGRNH LIFNLYSGTW PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD
   241  HPRTGGERGF LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVVLLTTCKH
   301  GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA LQAACVPVML
   361  SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK ILALRQQTQF LWEAYFSSVE
   421  KIVLTTLEII QDRIFKHISR NSLIWNKHPG GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF
   481  TAVIHAVTPL VSQSQPVLKL LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVVVIE
   541  GESKVMSSRF LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD
   601  NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA NCEDILMNFL
   661  VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ RQSCMNTFAS WFGYMPLIHS
   721  QMRLDPVLFK DQVSILRKKY RDIERL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXT1 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
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 16 nTPM
  • duodenum: 11 nTPM
  • small intestine: 9.7 nTPM
  • placenta: 9 nTPM
  • liver: 8.6 nTPM
  • urinary bladder: 8.5 nTPM

Single-cell type

  • kupffer cells: 2,691 nCPM
  • neutrophils: 2,110 nCPM
  • basal keratinocytes: 1,644 nCPM
  • epididymal basal cells: 1,627 nCPM
  • ocular epithelial cells: 1,595 nCPM
  • hepatic stellate cells: 1,523 nCPM

Immune cell

  • classical monocyte: 0.2 nTPM
  • intermediate monocyte: 0.2 nTPM
  • T-reg: 0.2 nTPM
  • naive CD8 T-cell: 0.1 nTPM
  • NK-cell: 0.1 nTPM
  • non-classical monocyte: 0.1 nTPM

Brain region

  • choroid plexus: 8.9 nTPM
  • hippocampal formation: 8 nTPM
  • cerebral cortex: 6.1 nTPM
  • basal ganglia: 6 nTPM
  • cerebellum: 5.8 nTPM
  • midbrain: 5.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXT1.

Disease | AllUniProt

Conditions EXT1 is implicated in, by any mechanism.

Disease | GeneticClinVar

528 pathogenic / likely-pathogenic of 1,242 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)
0.26
gnomAD pLI
1
gnomAD missense Z
1.67
DepMap mean gene effect
-0.31
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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 EXT1 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 EXT1 as an antibody target. Whether an autoantibody or antibody against EXT1 could matter depends on whether native EXT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EXT1 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 EXT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EXT1. 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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