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Aliases for C1GALT1 Gene

Aliases for C1GALT1 Gene

  • Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1 2 3
  • Core 1 UDP-Galactose:N-Acetylgalactosamine-Alpha-R Beta 1,3-Galactosyltransferase 1 3 4
  • Core 1 O-Glycan T-Synthase 3 4
  • Core 1 Beta3-Gal-T1 3 4
  • EC 4 64
  • B3GAL-T8 3 4
  • Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase, 1 3
  • Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1 3
  • Core 1 Beta1,3-Galactosyltransferase 1 4
  • Beta-1,3-Galactosyltransferase 4
  • Core 1 Beta3-Gal-T 2
  • T-Synthase 3
  • C1GalT1 4
  • C1GALT 3

External Ids for C1GALT1 Gene

Summaries for C1GALT1 Gene

Entrez Gene Summary for C1GALT1 Gene

  • 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]

GeneCards Summary for C1GALT1 Gene

C1GALT1 (Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1) is a Protein Coding gene. Diseases associated with C1GALT1 include iga glomerulonephritis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. An important paralog of this gene is C1GALT1C1.

UniProtKB/Swiss-Prot for C1GALT1 Gene

  • Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1GALT1 Gene

Genomics for C1GALT1 Gene

Genomic Location for C1GALT1 Gene

7,156,934 bp from pter
7,248,651 bp from pter
91,718 bases
Plus strand

Genomic View for C1GALT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C1GALT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1GALT1 Gene

Regulatory Elements for C1GALT1 Gene

Proteins for C1GALT1 Gene

  • Protein details for C1GALT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
    Protein Accession:
    Secondary Accessions:
    • Q96QH4
    • Q9BTU1

    Protein attributes for C1GALT1 Gene

    363 amino acids
    Molecular mass:
    42203 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity.
    • Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN

    Alternative splice isoforms for C1GALT1 Gene


neXtProt entry for C1GALT1 Gene

Proteomics data for C1GALT1 Gene at MOPED

Selected DME Specific Peptides for C1GALT1 Gene

Post-translational modifications for C1GALT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1GALT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for C1GALT1 Gene

Gene Families for C1GALT1 Gene

  • B3GT :Beta 3-glycosyltransferases

Protein Domains for C1GALT1 Gene



  • Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.:
    • Q9NS00
genes like me logo Genes that share domains with C1GALT1: view

Function for C1GALT1 Gene

Molecular function for C1GALT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: UDP-alpha-D-galactose + glycoprotein N-acetyl-D-galactosamine = UDP + glycoprotein D-galactosyl-(1->3)-N-acetyl-D-galactosamine.
UniProtKB/Swiss-Prot Function: Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development

Enzyme Numbers (IUBMB) for C1GALT1 Gene

Gene Ontology (GO) - Molecular Function for C1GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21496458
GO:0008378 galactosyltransferase activity --
GO:0016263 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IDA 11677243
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with C1GALT1: view
genes like me logo Genes that share phenotypes with C1GALT1: view

Animal Models for C1GALT1 Gene

MGI Knock Outs for C1GALT1:

miRNA for C1GALT1 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for C1GALT1 Gene

Localization for C1GALT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1GALT1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

Jensen Localization Image for C1GALT1 Gene COMPARTMENTS Subcellular localization image for C1GALT1 gene
Compartment Confidence
golgi apparatus 4
extracellular 3
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for C1GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 11677243
genes like me logo Genes that share ontologies with C1GALT1: view

Pathways for C1GALT1 Gene

genes like me logo Genes that share pathways with C1GALT1: view

Pathways by source for C1GALT1 Gene

UniProtKB/Swiss-Prot Q9NS00-C1GLT_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for C1GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IMP 17228361
GO:0001822 kidney development IMP 17228361
GO:0006486 protein glycosylation --
GO:0006493 protein O-linked glycosylation TAS --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with C1GALT1: view

Compounds for C1GALT1 Gene

(2) HMDB Compounds for C1GALT1 Gene

Compound Synonyms Cas Number PubMed IDs
  • Magnesium
  • 2-Acetamido-2-desoxy-b-D-talofuranose
genes like me logo Genes that share compounds with C1GALT1: view

Transcripts for C1GALT1 Gene

Unigene Clusters for C1GALT1 Gene

Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C1GALT1 Gene

No ASD Table

Relevant External Links for C1GALT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C1GALT1 Gene

mRNA expression in normal human tissues for C1GALT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C1GALT1 Gene

SOURCE GeneReport for Unigene cluster for C1GALT1 Gene Hs.239666

mRNA Expression by UniProt/SwissProt for C1GALT1 Gene

Tissue specificity: Widely expressed. Highly expressed in kidney, heart, placenta and liver.
genes like me logo Genes that share expressions with C1GALT1: view

Orthologs for C1GALT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for C1GALT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C1GALT1 36
  • 99.36 (n)
  • 99.17 (a)
C1GALT1 37
  • 99 (a)
(Bos Taurus)
Mammalia C1GALT1 36
  • 90.5 (n)
  • 91.06 (a)
C1GALT1 37
  • 89 (a)
(Canis familiaris)
Mammalia C1GALT1 36
  • 92.85 (n)
  • 93.59 (a)
C1GALT1 37
  • 93 (a)
(Mus musculus)
Mammalia C1galt1 36
  • 88.98 (n)
  • 89.26 (a)
C1galt1 16
C1galt1 37
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia C1GALT1 37
  • 61 (a)
(Rattus norvegicus)
Mammalia C1galt1 36
  • 89.16 (n)
  • 89.81 (a)
(Gallus gallus)
Aves C1GALT1 36
  • 78.32 (n)
  • 80.52 (a)
C1GALT1 37
  • 76 (a)
(Anolis carolinensis)
Reptilia C1GALT1 37
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c1galt1 36
  • 69.8 (n)
  • 75.21 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9632 36
(Danio rerio)
Actinopterygii C1GALT1 (3 of 4) 37
  • 51 (a)
C1GALT1 (4 of 4) 37
  • 58 (a)
c1galt1a 37
  • 47 (a)
c1galt1b 37
  • 54 (a)
wufa98f05 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009979 36
  • 55.22 (n)
  • 52.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta C1GalTA 36
  • 52.46 (n)
  • 52.35 (a)
C1GalTA 37
  • 42 (a)
CG18558 37
  • 18 (a)
CG2975 37
  • 32 (a)
CG2983 37
  • 28 (a)
CG3119 37
  • 32 (a)
CG34056 37
  • 35 (a)
CG34057 37
  • 33 (a)
CG8708 37
  • 36 (a)
tgy 37
  • 32 (a)
CG8708 38
  • 54 (a)
CG13904 38
  • 42 (a)
CG7440 38
  • 41 (a)
CG9520 38
  • 50 (a)
CG2975 38
  • 42 (a)
CG3119 38
  • 38 (a)
CG2983 38
  • 34 (a)
(Caenorhabditis elegans)
Secernentea C38H2.2 36
  • 54.67 (n)
  • 50.46 (a)
C38H2.2 37
  • 41 (a)
C38H2.2 38
  • 52 (a)
F56H6.1 38
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 52 (a)
Species with no ortholog for C1GALT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for C1GALT1 Gene

Gene Tree for C1GALT1 (if available)
Gene Tree for C1GALT1 (if available)

Paralogs for C1GALT1 Gene

Paralogs for C1GALT1 Gene Pseudogenes for C1GALT1 Gene

genes like me logo Genes that share paralogs with C1GALT1: view

Variants for C1GALT1 Gene

Sequence variations from dbSNP and Humsavar for C1GALT1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs10513 -- 7,248,465(-) CATTC(A/G)TAACA utr-variant-3-prime
rs14692 -- 7,244,086(-) TACTA(A/T)CATGG utr-variant-3-prime
rs740530 -- 7,182,563(-) GCGCA(A/G)CCGCC upstream-variant-2KB, utr-variant-5-prime
rs740531 -- 7,182,550(-) CCGAA(C/G)TCTCC upstream-variant-2KB, utr-variant-5-prime
rs740532 -- 7,182,351(-) TGTGT(C/T)TGCTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C1GALT1 Gene

Variant ID Type Subtype PubMed ID
esv2752174 CNV Gain 17911159
nsv464300 CNV Gain 19166990
nsv508445 CNV Loss 20534489
dgv2052e1 CNV Complex 17122850
nsv8041 CNV Loss 18304495
nsv464301 CNV Gain 19166990
nsv469770 CNV Loss 16826518
essv19077 CNV CNV 17122850

Relevant External Links for C1GALT1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for C1GALT1 Gene

(1) MalaCards Diseases for C1GALT1 Gene

Search for C1GALT1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for C1GALT1 Gene

(1) Novoseek inferred disease relationships for C1GALT1 Gene

Disease -log(P) Hits PubMed IDs
nephropathy iga 64.4 1

Relevant External Links for C1GALT1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with C1GALT1: view

No data available for UniProtKB/Swiss-Prot for C1GALT1 Gene

Publications for C1GALT1 Gene

  1. Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. (PMID: 17228361) Li G.-S. … Wang H.-Y. (Kidney Int. 2007) 3 4 23 49
  2. No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients. (PMID: 18840896) Malycha F. … Eitner F. (Nephrol. Dial. Transplant. 2009) 3 23 49
  3. Cloning and expression of human core 1 beta1,3- galactosyltransferase. (PMID: 11677243) Ju T. … Canfield W.M. (J. Biol. Chem. 2002) 2 3 4
  4. Interaction between variants of two glycosyltransferase genes in IgA nephropathy. (PMID: 19357720) Zhu L. … Wang H. (Kidney Int. 2009) 3 4 49
  5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 49

Products for C1GALT1 Gene

Sources for C1GALT1 Gene

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