C1galt1c1 Gene Summary [Rat]

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]

Details

Type
Protein Coding
Official Symbol
C1galt1c1
Official Name
C1GALT1-specific chaperone 1 [Source:RGD Symbol;Acc:1311230]
Ensembl ID
ENSRNOG00000002536
Bio databases IDs NCBI: 302499 Ensembl: ENSRNOG00000002536
Aliases C1GALT1-specific chaperone 1
Synonyms 1500002I11RIK, AHUS8, C1GALT1-specific chaperone 1, C1GALT2, C38H2-L1, C81205, COSMC, HSPC067, MST143, RGD1311230, TNPS
Species
Rat, Rattus norvegicus
OrthologiesHumanMouse

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in rat C1galt1c1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • cytoplasmic domain
  • lumenal domain
  • transmembrane domain
  • enzyme
  • protein binding
  • glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • enteritis
  • atypical hemolytic uremic syndrome with rhizomelic short stature type 8
  • Tn polyagglutination syndrome
  • dextran sodium sulfate-induced colitis
  • bleeding
  • atypical hemolytic uremic syndrome
  • growth failure
  • macrothrombocytopenia
regulated by
regulates
role in cell
  • phosphorylation in
  • expression in
  • apoptosis
  • quantity
  • growth
  • cell death
  • degradation in
  • cell viability
  • binding
  • proteolysis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Golgi membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the rat C1galt1c1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein O-linked glycosylation
  • O-glycan processing, core 1
  • platelet activation

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • Golgi membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.