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

Gene ID: 29071, updated on 10-Dec-2024

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
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Genomic context

See C1GALT1C1 in Genome Data Viewer
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_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905210 Neighboring gene uncharacterized LOC124905296 Neighboring gene MCTS1 re-initiation and release factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:119763290-119764217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29904 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 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-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.

Genomic

  1. NG_016219.1 RefSeqGene

    Range
    5097..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
    A8K246, Q8WWS3, Q96EU7, Q9NZX1
    Related
    ENSP00000304364.5, ENST00000304661.6
  2. NM_152692.5NP_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
    A8K246, Q8WWS3, Q96EU7, Q9NZX1
    Related
    ENSP00000360363.2, ENST00000371313.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    120625674..120630054 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160027.1 Reference GRCh38.p14 PATCHES

    Range
    25742..30122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    119001127..119005507 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)