InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: C1GALT1C1

Summary

InnateDB Protein

IDBP-84604.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

C1GALT1C1

Protein Name

C1GALT1-specific chaperone 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000304364

InnateDB Gene

IDBG-84600 (C1GALT1C1)

Protein Structure

UniProt Annotation

Function

Probable chaperone required for the generation of 1 O- glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1). {ECO:0000269PubMed:12464682}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.

Disease Associations

Tn polyagglutination syndrome (TNPS) [MIM:300622]: A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. {ECO:0000269PubMed:16251947, ECO:0000269PubMed:18537974}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus. {ECO:0000269PubMed:12361956}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity
GO:0005515	protein binding

Biological Process

GO:0006493	protein O-linked glycosylation
GO:0016266	O-glycan processing
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process