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Gene: C1GALT1C1 (C1GALT1 specific chaperone 1) Homo sapiens
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Symbol: C1GALT1C1
Name: C1GALT1 specific chaperone 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta 1,3-galactosyltransferase 2; C1Gal-T2; C1GALT1-specific chaperone 1; C1GALT2; C38H2-L1; C38H2-like protein 1; core 1 beta1,3-galactosyltransferase 2; core 1 beta3-Gal-T2; core 1 beta3-galactosyltransferase-specific molecular chaperone; COSMC; HSPC067; MGC19947; MST143; TNPS
Orthologs:
Mus musculus (house mouse) : C1galt1c1 (C1GALT1-specific chaperone 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : C1galt1c1 (C1GALT1-specific chaperone 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : C1galt1c1 (C1GALT1 specific chaperone 1)
Pan paniscus (bonobo/pygmy chimpanzee) : C1GALT1C1 (C1GALT1 specific chaperone 1)
Canis lupus familiaris (dog) : C1GALT1C1 (C1GALT1 specific chaperone 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : C1galt1c1 (C1GALT1 specific chaperone 1)
Sus scrofa (pig) : C1GALT1C1 (C1GALT1 specific chaperone 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X120,625,674 - 120,630,150 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X119,759,529 - 119,764,005 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,643,559 - 119,647,969 (-)NCBINCBI36hg18NCBI36
Build 34X119,541,415 - 119,545,823NCBI
CeleraX120,223,852 - 120,228,328 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX109,224,041 - 109,228,519 (-)NCBIHuRef
CHM1_1X119,671,176 - 119,675,652 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on C1GALT1C1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344219
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.