Version 5.4
Homo sapiens Gene: C1GALT1C1
Summary
InnateDB Gene IDBG-84600.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C1GALT1C1
Gene Name C1GALT1-specific chaperone 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000171155
Encoded Proteins
IDBP-84602
C1GALT1-specific chaperone 1
IDBP-84604
C1GALT1-specific chaperone 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:120625793-120630150
Strand Reverse strand
Band q24
Transcripts
ENST00000371313 ENSP00000360363
ENST00000304661 ENSP00000304364
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
Cellular Component
GO:0000139 Golgi membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000048970
View Gene Order
ENSBTAG00000021410
Not yet available
Pathways
NETPATH
REACTOME
REACT_115606
O-linked glycosylation of mucins pathway
REACT_22161
Post-translational protein modification pathway
REACT_200727
O-linked glycosylation pathway
REACT_17015
Metabolism of proteins pathway
KEGG
hsa00512
Mucin type O-Glycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.713843
RefSeq NM_001011551 NM_152692
HUGO
OMIM
CCDS CCDS14602
HPRD 06462
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca