C1GALT1C1 - C1GALT1 specific chaperone 1 Gene

Homo sapiens

Also known as TNPS; COSMC; MST143; C1GALT2; HSPC067; C38H2-L1

Gene ID: 29071 | Gene type: protein coding

About C1GALT1C1

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:120,625,674-120,630,054 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 226 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 15.6), colon (RPKM 13.2) and 25 other tissues.

Summary

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]

C1GALT1C1 Products(2)

mRNA	Protein	Name
NM_001011551.3	NP_001011551.1	C1GALT1-specific chaperone 1
NM_152692.5	NP_689905.1	C1GALT1-specific chaperone 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IMP IMP: Inferred from mutant phenotype	37216524	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21496458	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within protein O-linked glycosylation	IMP IMP: Inferred from mutant phenotype	21383503	GOA
involved in protein O-linked glycosylation	IMP IMP: Inferred from mutant phenotype	37216524	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

C1GALT1-specific chaperone 1

C38H2-like protein 1

Related Diseases

Diseases

Alias

Tn Polyagglutination Syndrome

Galactosyltransferase Deficiency	Tn Syndrome
TNPS	Tn Polyagglutination Syndrome, Somatic

Hypersensitivity Vasculitis

Cutaneous Small Vessel Vasculitis	Hypersensitivity Angiitis
Cutaneous Leukocytoclastic Vasculitis	Leukocytoclastic Angiitis
Vasculitis, Leukocytoclastic, Cutaneous	Leukocytoclastic Vasculitis
Cutaneous Leukocytoclastic Angiitis	Cutaneous Hypersensitivity Vasculitis
Vasculitis Hypersensitivity	Drug Induced Cutaneous Vasculitis
Allergic Vasculitis

Henoch-Schoenlein Purpura

Henoch-Schonlein Purpura	Iga Vasculitis
Allergic Purpura	Anaphylactoid Purpura
Rheumatoid Purpura	Immunoglobulin A Vasculitis
Vascular Purpura	Purpura Rheumatica
Henoch-Schönlein Purpura	Autoimmune Purpura
Henoch-Schnlein Purpura	Henoch-Sch@Nlein Purpura
Henoch-Scholein Purpura	Purpura, Autoimmune
Henoch Schonlein Purpura	Immunoglobulin-A Vasculitis
Purpura, Schonlein-Henoch	Purpura, Schönlein-Henoch
Hsp -	Schönlein-Henoch Purpura

Iga Glomerulonephritis

Iga Nephropathy	Glomerulonephritis, Iga
Berger'S Iga Or Igg Nephropathy	Focal Glomerulonephritis
Primary Iga Nephropathy	Segmental Glomerulonephritis
Berger Disease	Berger'S Disease
Igan	Nephritis, Iga Type
Nephropathy Iga	Glomerulonephritis Focal
Iga Nephropathy, Susceptibility To	Primary Immunoglobulin A Nephropathy

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01708	C1GALT1C1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	C1GALT1C1	VGNC	VGNC:38575
Rattus norvegicus	C1GALT1C1	RGD	RGD:1311230
Macaca mulatta	C1GALT1C1	VGNC	VGNC:70374
Felis catus	C1GALT1C1	VGNC	VGNC:60218
Mus musculus	C1GALT1C1	MGD	MGI:1913493

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