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

Gene ID: 29071, updated on 6-Jul-2014
Official Symbol
C1GALT1C1provided by HGNC
Official Full Name
C1GALT1-specific chaperone 1provided by HGNC
Primary source
HGNC:24338
Locus tag
HSPC067
See related
Ensembl:ENSG00000171155; HPRD:06462; MIM:300611; Vega:OTTHUMG00000022305
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]
See C1GALT1C1 in Epigenomics, MapViewer
Location:
Xq24
Exon count :
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 malignant T cell amplified sequence 1 Neighboring gene glutaredoxin 5 pseudogene Neighboring gene proliferation-associated 2G4 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
polypeptide N-acetylgalactosaminyltransferase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
C1GALT1-specific chaperone 1
Names
C1GALT1-specific chaperone 1
C1Gal-T2
core 1 beta3-Gal-T2
C38H2-like protein 1
beta 1,3-galactosyltransferase 2
core 1 beta1,3-galactosyltransferase 2
core 1 beta3-galactosyltransferase-specific molecular chaperone

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 

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

mRNA and Protein(s)

  1. NM_001011551.2NP_001011551.1  C1GALT1-specific chaperone 1

    See proteins identical to 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, OTTHUMP00000023952, ENST00000304661, OTTHUMT00000058117
  2. NM_152692.4NP_689905.1  C1GALT1-specific chaperone 1

    See proteins identical to 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    109224041..109228519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    119671176..119675652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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