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C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 56913, updated on 5-Aug-2018

Summary

Official Symbol
C1GALT1provided by HGNC
Official Full Name
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:24337
See related
Ensembl:ENSG00000106392 MIM:610555; Vega:OTTHUMG00000151912
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
C1GALT; T-synthase
Summary
The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
Expression
Ubiquitous expression in bone marrow (RPKM 7.5), duodenum (RPKM 6.7) and 24 other tissues See more
Orthologs

Genomic context

See C1GALT1 in Genome Data Viewer
Location:
7p22.1-p21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (7182547..7248651)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (7222178..7288282)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375138 Neighboring gene zinc finger protein 655 pseudogene Neighboring gene microRNA 3683 Neighboring gene uncharacterized LOC101927354 Neighboring gene uncharacterized LOC107986764 Neighboring gene collagen type XXVIII alpha 1 chain

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
NHGRI GWA Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing, core 1 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
intestinal epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Names
B3Gal-T8
core 1 O-glycan T-synthase
core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1
core 1 beta3-Gal-T1
NP_064541.1
XP_005249869.1
XP_011513755.1
XP_011513757.1
XP_011513758.1
XP_016867931.1
XP_016867933.1
XP_016867934.1
XP_016867935.1
XP_016867936.1
XP_016867937.1
XP_016867938.1
XP_024302606.1

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_027732.1 RefSeqGene

    Range
    5001..71037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020156.4NP_064541.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

    See identical proteins and their annotated locations for NP_064541.1

    Status: REVIEWED

    Source sequence(s)
    AA443459, AC005532, AF155582, AI400132, CN360565, DA977378, DB106731, DB136152
    Consensus CDS
    CCDS5355.1
    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Related
    ENSP00000389176.2, ENST00000436587.6
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    7182547..7248651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249812.1XP_005249869.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    Conserved Domains (1) summary
    cl21608
    Location:115256
    Galactosyl_T; Galactosyltransferase
  2. XM_017012445.1XP_016867934.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  3. XM_011515453.2XP_011513755.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_011513755.1

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  4. XM_011515455.2XP_011513757.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_011513757.1

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  5. XM_011515456.2XP_011513758.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_011513758.1

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Related
    ENSP00000223122.2, OTTHUMP00000200760, ENST00000223122.3, OTTHUMT00000324379
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  6. XM_017012444.1XP_016867933.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  7. XM_017012447.1XP_016867936.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  8. XM_017012446.1XP_016867935.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  9. XM_017012442.1XP_016867931.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  10. XM_024446838.1XP_024302606.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  11. XM_017012448.1XP_016867937.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107221
    Galactosyl_T; Galactosyltransferase
  12. XM_017012449.2XP_016867938.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X3

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