C1GALT1C1 C1GALT1 specific chaperone 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1GALT1C1provided by HGNC
Official Full Name: C1GALT1 specific chaperone 1provided by HGNC
Primary source: HGNC:HGNC:24338
See related: Ensembl:ENSG00000171155 MIM:300611; AllianceGenome:HGNC:24338
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TNPS; AHUS8; COSMC; MST143; C1GALT2; HSPC067; C38H2-L1
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]
Expression: Ubiquitous expression in adrenal (RPKM 15.6), colon (RPKM 13.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq24

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (120625674..120630054, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (119001127..119005507, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (119759529..119763909, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cosmc transfection decreases malignant behavior of Tn(+) cells and enhances sensitivity to apoptosis when induced by Apo2L/TRAIL via alteration of O-glycan structure.
Title: Cosmc transfection decreases malignant behavior of Tn(+) cells and enhances sensitivity to apoptosis when induced by Apo2L/TRAIL via alteration of O-glycan structure.
C1GALT1C1/COSMC is a novel prognostic biomarker for hepatocellular carcinoma.
Title: C1GALT1C1/COSMC is a novel prognostic biomarker for hepatocellular carcinoma.
Cosmc overexpression enhances malignancies in human colon cancer.
Title: Cosmc overexpression enhances malignancies in human colon cancer.
MicroRNA196b targets COSMC in pediatric IgA nephropathy.
Title: MicroRNA‑196b targets COSMC in pediatric IgA nephropathy.
In addition, we found that Tn-expressing colorectal cancers (CRC) cell lines had either loss-of-function mutations in Cosmc or reversible Tn antigen expression, which was not caused by the deficiency of T-synthase activity
Title: Differential expression of Cosmc, T-synthase and mucins in Tn-positive colorectal cancers.
elevated Tn levels in cancer and inflammation may be commonly regulated by the cytokine (TNFa and IL6)-Cosmc signaling axis
Title: The cytokine-cosmc signaling axis upregulates the tumor-associated carbohydrate antigen Tn.
The data suggest that hypermethylation of the Cosmc promoter may induce the expression of Tn antigen in activated T cells.
Title: CD3/CD28 dynabeads induce expression of tn antigen in human t cells accompanied by hypermethylation of the cosmc promoter.
results provide new structure-function insight to Cosmc, indicate that Cosmc behaves as a modular protein and suggests points of modulation or regulation of in vivo chaperone function
Title: Biochemical characterization of functional domains of the chaperone Cosmc.
Data indicate that mRNA levels of both core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1) and C1GALT1-specific chaperone 1 protein (C1GALT1C1) determine the rate of secretion of galactose-deficient IgA1 (Gd-IgA1) in IgA1-producing cells.
Title: GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.
The terminal glycosylation of secreted IgA1 was altered in response to TGFbeta1. TGFbeta1 stimulation significantly decreased the mRNA levels of C1GalT1 and Cosmc. TGFbeta1 may be key in controlling the glycosylation of IgA1, in part via the downregulation of C1GalT1 and Cosmc.
Title: TGF-β1 mimics the effect of IL-4 on the glycosylation of IgA1 by downregulating core 1 β1, 3-galactosyltransferase and Cosmc.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature MedGen: C5829585 OMIM: 301110 GeneReviews: Not available	not available
Polyagglutinable erythrocyte syndrome MedGen: C0272137 OMIM: 300622 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G31528 (e-PCR)
- UniSTS:32641

C1GALT2__4480 (e-PCR)
- UniSTS:463241

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in platelet activation	IEA Inferred from Electronic Annotation more info
involved_in platelet morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: C1GALT1-specific chaperone 1

Names: C38H2-like protein 1; beta 1,3-galactosyltransferase 2; core 1 beta1,3-galactosyltransferase 2; core 1 beta3-Gal-T-specific molecular chaperone; core 1 beta3-Gal-T2; core 1 beta3-galactosyltransferase-specific molecular chaperone

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.