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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 2.4.1.122 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 Transport to the Golgi and subsequent modification and Metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C1GALT1 Gene

Chromosome:
7
Start:
7,156,934 bp from pter
End:
7,248,651 bp from pter
Size:
91,718 bases
Orientation:
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

Proteins for C1GALT1 Gene

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

    Protein Symbol:
    Q9NS00-C1GLT_HUMAN
    Recommended name:
    Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
    Protein Accession:
    Q9NS00
    Secondary Accessions:
    • Q96QH4
    • Q9BTU1

    Protein attributes for C1GALT1 Gene

    Size:
    363 amino acids
    Molecular mass:
    42203 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

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

Antibody Products

Domains & Families for C1GALT1 Gene

Gene Families for C1GALT1 Gene

Protein Domains for C1GALT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1GALT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NS00

UniProtKB/Swiss-Prot:

C1GLT_HUMAN :
  • Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
Family:
  • 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

Gene Ontology (GO) - Molecular Function for C1GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21496458
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:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C1GALT1

In Situ Assay Products

Flow Cytometry Products

No data available for 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

COMPARTMENTS
Jensen Localization Image for C1GALT1 Gene COMPARTMENTS Subcellular localization image for C1GALT1 gene
Compartment Confidence
golgi apparatus 4
cytosol 2
endoplasmic reticulum 2
nucleus 2
extracellular 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 & Interactions for C1GALT1 Gene

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

Pathways by source for C1GALT1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006493 protein O-linked glycosylation TAS --
GO:0016266 O-glycan processing TAS --
GO:0016267 O-glycan processing, core 1 IBA --
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 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0
Magnesium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 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
1811-31-0
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C1GALT1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for C1GALT1 Gene

GeneLoc Exon Structure for
C1GALT1
ECgene alternative splicing isoforms for
C1GALT1

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, 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

Q9NS00-C1GLT_HUMAN
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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia C1GALT1 35
  • 90.5 (n)
  • 91.06 (a)
C1GALT1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1GALT1 35
  • 92.85 (n)
  • 93.59 (a)
C1GALT1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1galt1 35
  • 88.98 (n)
  • 89.26 (a)
C1galt1 16
C1galt1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C1GALT1 35
  • 99.36 (n)
  • 99.17 (a)
C1GALT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1galt1 35
  • 89.16 (n)
  • 89.81 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia C1GALT1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1GALT1 35
  • 78.32 (n)
  • 80.52 (a)
C1GALT1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1GALT1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1galt1 35
  • 69.8 (n)
  • 75.21 (a)
zebrafish
(Danio rerio)
Actinopterygii wufa98f05 35
C1GALT1 (3 of 4) 36
  • 51 (a)
OneToMany
C1GALT1 (4 of 4) 36
  • 58 (a)
OneToMany
c1galt1a 36
  • 47 (a)
OneToMany
c1galt1b 36
  • 54 (a)
OneToMany
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)
OneToMany
CG18558 36
  • 18 (a)
OneToMany
CG2975 36
  • 32 (a)
OneToMany
CG2983 36
  • 28 (a)
OneToMany
CG3119 36
  • 32 (a)
OneToMany
CG34056 36
  • 35 (a)
OneToMany
CG34057 36
  • 33 (a)
OneToMany
CG8708 36
  • 36 (a)
OneToMany
tgy 36
  • 32 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009979 35
  • 55.22 (n)
  • 52.24 (a)
worm
(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)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C1GALT1 (if available)
TreeFam:
Gene Tree for C1GALT1 (if available)

Paralogs for C1GALT1 Gene

Paralogs for C1GALT1 Gene

Pseudogenes.org 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/G/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

Variation tolerance for C1GALT1 Gene

Residual Variation Intolerance Score: 16.34% 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

HapMap Linkage Disequilibrium report
C1GALT1
Human Gene Mutation Database (HGMD)
C1GALT1

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
  • primary iga nephropathy
hypersensitivity vasculitis
  • leukocytoclastic angiitis
- elite association

Relevant External Links for C1GALT1

Genetic Association Database (GAD)
C1GALT1
Human Genome Epidemiology (HuGE) Navigator
C1GALT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1GALT1
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. 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) 23 67
  2. Cosmc is an essential chaperone for correct protein O-glycosylation. (PMID: 20439703) Wang Y. … Cummings R.D. (Proc. Natl. Acad. Sci. U.S.A. 2010) 23 67
  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) 23 67
  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) 23 67
  5. New mutations in C1GALT1C1 in individuals with Tn positive phenotype. (PMID: 18537974) Crew V.K. … Anstee D.J. (Br. J. Haematol. 2008) 23 67

Products for C1GALT1 Gene

Sources for C1GALT1 Gene

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