Format

Send to:

Choose Destination

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

Gene ID: 29071, updated on 1-Jun-2020

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
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; 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

Genomic context

See C1GALT1C1 in Genome Data Viewer
Location:
Xq24
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (120625674..120630150, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119759529..119764005, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cullin 4B Neighboring gene Sharpr-MPRA regulatory region 11856 Neighboring gene MCTS1 re-initiation and release factor Neighboring gene H3 histone pseudogene 46 Neighboring gene GLRX5 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC19947

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
O-glycan processing, core 1 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
platelet activation IEA
Inferred from Electronic Annotation
more info
 
platelet morphogenesis IEA
Inferred from Electronic Annotation
more info
 
protein O-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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-T2
core 1 beta3-galactosyltransferase-specific molecular chaperone

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016219.1 RefSeqGene

    Range
    5001..9477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001011551.3NP_001011551.1  C1GALT1-specific chaperone 1

    See identical proteins and their annotated locations for NP_001011551.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AJ238398, AY358642, BC050441, BM971206
    Consensus CDS
    CCDS14602.1
    UniProtKB/Swiss-Prot
    Q96EU7
    Related
    ENSP00000304364.5, ENST00000304661.6
  2. NM_152692.4NP_689905.1  C1GALT1-specific chaperone 1

    See identical proteins and their annotated locations for NP_689905.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA578739, AJ238398, AY159319, BM971206
    Consensus CDS
    CCDS14602.1
    UniProtKB/Swiss-Prot
    Q96EU7
    Related
    ENSP00000360363.2, ENST00000371313.2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    120625674..120630150 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160027.1 Reference GRCh38.p13 PATCHES

    Range
    25742..30218 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center