C1GALT1C1 - C1GALT1 specific chaperone 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29071

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	Verweise	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	Verweise	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

C1GALT1C1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	C1GALT1C1	Q96EU7	C1GALT1	Homo sapiens	Q9NS00	Enzymatic Study	21496458

Cross: Cross-species interaction Intra: Intraspecies interaction

C1GALT1C1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P811279	COSMC Antibody	WB, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01708	C1GALT1C1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22079	C1galt1c1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28598	C1galt1c1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	C1GALT1C1	NCBI