C1GALT1C1

Protein identityUniProt · HPA

UniProt accession

Q96EU7

Gene

C1GALT1C1

Ensembl

ENSG00000171155

Chromosome

X

Canonical length

318 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

318 residues, UniProt reviewed canonical sequence.

>Q96EU7|C1GALT1C1
     1  MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE HHHLQAPNKE DILKISEDER
    61  MELSKSFRVY CIILVKPKDV SLWAAVKETW TKHCDKAEFF SSENVKVFES INMDTNDMWL
   121  MMRKAYKYAF DKYRDQYNWF FLARPTTFAI IENLKYFLLK KDPSQPFYLG HTIKSGDLEY
   181  VGMEGGIVLS VESMKRLNSL LNIPEKCPEQ GGMIWKISED KQLAVCLKYA GVFAENAEDA
   241  DGKDVFNTKS VGLSIKEAMT YHPNQVVEGC CSDMAVTFNG LTPNQMHVMM YGVYRLRAFG
   301  HIFNDALVFL PPNGSDND

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C1GALT1C1 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)

0.3

Highest tissue expression

33 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C1GALT1C1.

Disease | AllUniProt

Conditions C1GALT1C1 is implicated in, by any mechanism.

• Tn polyagglutination syndrome (TNPS) MIM:300622
• Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature (AHUS8) MIM:301110

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 72 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Polyagglutinable erythrocyte syndrome
• Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
• Abnormal protein O-linked glycosylation
• Atypical hemolytic-uremic syndrome

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)

0.48

gnomAD pLI

0.85

gnomAD missense Z

1.03

DepMap mean gene effect

0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• platelet activation
• platelet morphogenesis
• protein O-linked glycosylation

Cellular components

• extracellular exosome
• Golgi membrane

Protein domainsUniProt · Pfam · InterPro

• C1GALT1/C1GALT1-specific chaperone 1

KeywordsUniProt

• Chaperone
• Hemolytic uremic syndrome
• Membrane
• Signal-anchor
• Transmembrane
• Transmembrane helix