U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 56913, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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; AllianceGenome:HGNC:24337
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7p22.1-p21.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (7157377..7248616)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (7301750..7367825)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (7222175..7288247)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375138 Neighboring gene zinc finger protein 655 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:7131844-7132012 Neighboring gene uncharacterized LOC124901584 Neighboring gene CRISPRi-validated cis-regulatory element chr7.922 Neighboring gene CRISPRi-validated cis-regulatory element chr7.924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:7240975-7241493 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:7249044-7249615 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:7249616-7250186 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:7250187-7250758 Neighboring gene uncharacterized LOC107986764 Neighboring gene long intergenic non-protein coding RNA 3016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25640 Neighboring gene collagen type XXVIII alpha 1 chain Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:7478283-7479482 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:7505040-7505723

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Dysregulation and prometastatic function of glycosyltransferase C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in bladder cancer. Tan Z, et al. J Exp Clin Cancer Res, 2022 Jul 21. PMID 35864552, Free PMC Article
  2. Elevated miR-124-3p in the aging colon disrupts mucus barrier and increases susceptibility to colitis by targeting T-synthase. Huang L, et al. Aging Cell, 2020 Nov. PMID 33040455, Free PMC Article
  3. T-Synthase Deficiency Enhances Oncogenic Features in Human Colorectal Cancer Cells via Activation of Epithelial-Mesenchymal Transition. Dong X, et al. Biomed Res Int, 2018. PMID 30035127, Free PMC Article
  4. C1GALT1 predicts poor prognosis and is a potential therapeutic target in head and neck cancer. Lin MC, et al. Oncogene, 2018 Oct. PMID 29930379, Free PMC Article
  5. The Association of rs1047763 and rs1008898 of C1GALT1 with IgA Nephropathy Risk: A Global Meta-Analysis. Nie R, et al. Monoclon Antib Immunodiagn Immunother, 2017 Jun. PMID 28636500

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Truncation of GalNAc-type O-glycans Suppresses CD44-mediated Osteoclastogenesis and Bone Metastasis in Breast Cancer.
    Title: Truncation of GalNAc-type O-glycans Suppresses CD44-mediated Osteoclastogenesis and Bone Metastasis in Breast Cancer.
  2. Dysregulation and prometastatic function of glycosyltransferase C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in bladder cancer.
    Title: Dysregulation and prometastatic function of glycosyltransferase C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in bladder cancer.
  3. Interaction between G ALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.
    Title: Interaction between GALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.
  4. Elevated miR-124-3p in the aging colon disrupts mucus barrier and increases susceptibility to colitis by targeting T-synthase.
    Title: Elevated miR-124-3p in the aging colon disrupts mucus barrier and increases susceptibility to colitis by targeting T-synthase.
  5. C1GALT1 high expression is associated with poor survival of patients with pancreatic ductal adenocarcinoma and promotes cell invasiveness through integrin alphav.
    Title: C1GALT1 high expression is associated with poor survival of patients with pancreatic ductal adenocarcinoma and promotes cell invasiveness through integrin α(v).
  6. Association analysis of DNA methyltransferases in IgA nephropathy.
    Title: Association analysis of DNA methyltransferases in IgA nephropathy.
  7. C1GALT1 is associated with poor survival and promotes soluble Ephrin A1-mediated cell migration through activation of EPHA2 in gastric cancer.
    Title: C1GALT1 is associated with poor survival and promotes soluble Ephrin A1-mediated cell migration through activation of EPHA2 in gastric cancer.
  8. GM130 expression was significantly decreased in tonsil tissues and peripheral blood mononuclear cells of IgA nephropathy (IgAN) patients. Downregulation of GM130 can increase IgA1 O-glycosylation deficiency, which is thought to reduce C1GALT1 expression but not affect the expression of ST6GalNAC2. GM130 plays an important role in IgA1 O-glycans deficiency in IgAN patients, by negatively regulating C1GALT1 expression.
    Title: Loss of the Golgi Matrix Protein 130 Cause Aberrant IgA1 Glycosylation in IgA Nephropathy.
  9. C1GALT1 predicts poor prognosis and is a potential therapeutic target in head and neck cancer.
    Title: C1GALT1 predicts poor prognosis and is a potential therapeutic target in head and neck cancer.
  10. findings indicate that T-synthase deficiency in colorectal cancer cells not only is responsible for aberrant O-glycosylation, but also triggers the molecular process of EMT pathway, which may translate to increased invasiveness and metastasis in cancers
    Title: T-Synthase Deficiency Enhances Oncogenic Features in Human Colorectal Cancer Cells via Activation of Epithelial-Mesenchymal Transition.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Go to the top of the page Help
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
epididymis secretory sperm binding protein
NP_064541.1
XP_011513758.1
XP_016867931.1
XP_016867933.1
XP_016867934.1
XP_016867937.1
XP_016867938.1
XP_024302606.1
XP_047276573.1
XP_047276574.1
XP_047276575.1
XP_047276576.1
XP_047276577.1
XP_047276578.1
XP_047276579.1
XP_047276580.1
XP_054214635.1
XP_054214636.1
XP_054214637.1
XP_054214638.1
XP_054214639.1
XP_054214640.1
XP_054214641.1
XP_054214642.1
XP_054214643.1
XP_054214644.1
XP_054214645.1
XP_054214646.1
XP_054214647.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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
    4930..71002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020156.5 → NP_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)
    AC005532
    Consensus CDS
    CCDS5355.1
    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Related
    ENSP00000389176.2, ENST00000436587.7
    Conserved Domains (1) summary
    cl21608
    Location:107 → 221
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    7157377..7248616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420620.1 → XP_047276576.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  2. XM_047420623.1 → XP_047276579.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Related
    ENSP00000223122.2, ENST00000223122.4

  3. XM_047420617.1 → XP_047276573.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  4. XM_017012444.2 → XP_016867933.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107 → 221
    Galactosyl_T; Galactosyltransferase

  5. XM_017012445.2 → XP_016867934.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107 → 221
    Galactosyl_T; Galactosyltransferase

  6. XM_047420621.1 → XP_047276577.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  7. XM_047420618.1 → XP_047276574.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  8. XM_047420619.1 → XP_047276575.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  9. XM_047420622.1 → XP_047276578.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  10. XM_011515456.3 → XP_011513758.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011513758.1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107 → 221
    Galactosyl_T; Galactosyltransferase

  11. XM_017012442.2 → XP_016867931.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107 → 221
    Galactosyl_T; Galactosyltransferase

  12. XM_024446838.2 → XP_024302606.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107 → 221
    Galactosyl_T; Galactosyltransferase

  13. XM_017012448.1 → XP_016867937.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32
    Conserved Domains (1) summary
    cl21608
    Location:107 → 221
    Galactosyl_T; Galactosyltransferase

  14. XM_047420624.1 → XP_047276580.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

  15. XM_017012449.3 → XP_016867938.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    7301750..7367825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358666.1 → XP_054214641.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  2. XM_054358667.1 → XP_054214642.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  3. XM_054358669.1 → XP_054214644.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  4. XM_054358663.1 → XP_054214638.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  5. XM_054358664.1 → XP_054214639.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  6. XM_054358670.1 → XP_054214645.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  7. XM_054358662.1 → XP_054214637.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  8. XM_054358668.1 → XP_054214643.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  9. XM_054358661.1 → XP_054214636.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  10. XM_054358665.1 → XP_054214640.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  11. XM_054358660.1 → XP_054214635.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96QH4, Q9BTU1, Q9NS00
    UniProtKB/TrEMBL
    A0A024RA32

  12. XM_054358672.1 → XP_054214647.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

  13. XM_054358671.1 → XP_054214646.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NS00.1 GenPept UniProtKB/Swiss-Prot:Q9NS00

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous