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Aliases for C1GALT1 Gene

Aliases for C1GALT1 Gene

  • Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1 2 3 5
  • 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 63
  • B3GAL-T8 3 4
  • Core 1 Synthase, 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

Previous GeneCards Identifiers for C1GALT1 Gene

  • GC07P006918
  • GC07P007018
  • GC07P007047
  • GC07P007240
  • GC07P007196

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 and Hypersensitivity Vasculitis. Among its related pathways are Diseases associated with O-glycosylation of proteins and Infectious disease. GO annotations related to this gene include transferase activity, transferring glycosyl groups and 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

Regulatory Elements for C1GALT1 Gene

Enhancers for C1GALT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C1GALT1 on UCSC Golden Path with GeneCards custom track

Promoters for C1GALT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C1GALT1 on UCSC Golden Path with GeneCards custom track

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

Genes around C1GALT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1GALT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1GALT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Domains & Families for C1GALT1 Gene

Gene Families for C1GALT1 Gene

Protein Domains for C1GALT1 Gene


Suggested Antigen Peptide Sequences for C1GALT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
  • Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
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

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

Animal Models for C1GALT1 Gene

MGI Knock Outs for C1GALT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for C1GALT1

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 5
extracellular 3
cytosol 2
endoplasmic reticulum 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for C1GALT1 Gene

Pathways & Interactions for C1GALT1 Gene

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

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 IEA,IMP 17228361
GO:0016267 O-glycan processing, core 1 IBA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with C1GALT1: view

No data available for SIGNOR curated interactions for C1GALT1 Gene

Drugs & Compounds for C1GALT1 Gene

(3) Drugs for C1GALT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
Magnesium Nutra 0

(1) Additional Compounds for C1GALT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-Acetamido-2-deoxy-a-D-allopyranose
  • 2-Acetamido-2-deoxy-a-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-D-allopyranose
  • 2-Acetamido-2-deoxy-alpha-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-delta-allopyranose
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

Protein differential expression in normal tissues from HIPED for C1GALT1 Gene

This gene is overexpressed in Placenta (64.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with C1GALT1: view

Protein tissue co-expression partners for C1GALT1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for C1GALT1 Gene

Orthologs for C1GALT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for C1GALT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia C1GALT1 35
  • 90.5 (n)
  • 91.06 (a)
C1GALT1 36
  • 89 (a)
(Canis familiaris)
Mammalia C1GALT1 35
  • 92.85 (n)
  • 93.59 (a)
C1GALT1 36
  • 93 (a)
(Mus musculus)
Mammalia C1galt1 35
  • 88.98 (n)
  • 89.26 (a)
C1galt1 16
C1galt1 36
  • 89 (a)
(Pan troglodytes)
Mammalia C1GALT1 35
  • 99.36 (n)
  • 99.17 (a)
C1GALT1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia C1galt1 35
  • 89.16 (n)
  • 89.81 (a)
(Ornithorhynchus anatinus)
Mammalia C1GALT1 36
  • 61 (a)
(Gallus gallus)
Aves C1GALT1 35
  • 78.32 (n)
  • 80.52 (a)
C1GALT1 36
  • 76 (a)
(Anolis carolinensis)
Reptilia C1GALT1 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c1galt1 35
  • 69.8 (n)
  • 75.21 (a)
(Danio rerio)
Actinopterygii wufa98f05 35
C1GALT1 (3 of 4) 36
  • 51 (a)
C1GALT1 (4 of 4) 36
  • 58 (a)
c1galt1a 36
  • 47 (a)
c1galt1b 36
  • 54 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9632 35
fruit fly
(Drosophila melanogaster)
Insecta CG13904 37
  • 42 (a)
CG2975 37
  • 42 (a)
CG2983 37
  • 34 (a)
CG3119 37
  • 38 (a)
CG7440 37
  • 41 (a)
CG8708 37
  • 54 (a)
CG9520 37
  • 50 (a)
C1GalTA 35
  • 52.46 (n)
  • 52.35 (a)
C1GalTA 36
  • 42 (a)
CG18558 36
  • 18 (a)
CG2975 36
  • 32 (a)
CG2983 36
  • 28 (a)
CG3119 36
  • 32 (a)
CG34056 36
  • 35 (a)
CG34057 36
  • 33 (a)
CG8708 36
  • 36 (a)
tgy 36
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009979 35
  • 55.22 (n)
  • 52.24 (a)
(Caenorhabditis elegans)
Secernentea C38H2.2 37
  • 52 (a)
F56H6.1 37
  • 33 (a)
C38H2.2 35
  • 54.67 (n)
  • 50.46 (a)
C38H2.2 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs767298 -- 7,234,953(-) TAGTT(A/C)TATTA intron-variant
rs971481 -- 7,203,402(-) aatat(C/G)ctttc intron-variant
rs1008896 -- 7,231,010(+) TCTGA(A/G)ATTCT intron-variant
rs1008897 -- 7,233,809(+) TTTAC(A/G)TTTAT intron-variant
rs1008898 -- 7,233,928(+) GAGAA(G/T)GGGTG intron-variant

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

Variation tolerance for C1GALT1 Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 39.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1GALT1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1GALT1 Gene

Disorders for C1GALT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C1GALT1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
iga glomerulonephritis
  • berger's iga or igg nephropathy
hypersensitivity vasculitis
  • cutaneous leukocytoclastic angiitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C1GALT1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C1GALT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 48 67
  2. The endoplasmic reticulum chaperone Cosmc directly promotes in vitro folding of T-synthase. (PMID: 19923218) Aryal R.P. … Cummings R.D. (J. Biol. Chem. 2010) 3 23
  3. 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
  4. Systematic determination of the peptide acceptor preferences for the human UDP-Gal:glycoprotein-alpha-GalNAc beta 3 galactosyltransferase (T-synthase). (PMID: 19073881) Perrine C. … Gerken T.A. (Glycobiology 2009) 3 23
  5. Immunocytochemical analysis for intracellular dynamics of C1GalT associated with molecular chaperone, Cosmc. (PMID: 18061573) Narimatsu Y. … Narimatsu H. (Biochem. Biophys. Res. Commun. 2008) 3 23

Products for C1GALT1 Gene

Sources for C1GALT1 Gene