Free for academic non-profit institutions. Other users need a Commercial license

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 2.4.1.122 4 61
  • B3GAL-T8 3 4
  • 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 Henoch-Schoenlein Purpura. Among its related pathways are Diseases associated with O-glycosylation of proteins and Transport to the Golgi and subsequent modification. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

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

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:
    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

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

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: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

  • Taconic Biosciences Mouse Models for C1GALT1

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for C1GALT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
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

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:0001822 kidney development IMP 17228361
GO:0006493 protein O-linked glycosylation IEA --
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

(2) Drugs for C1GALT1 Gene - From: HMDB

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

(2) 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
Uridine diphosphategalactose
  • GDU
  • UDP Galactose
  • UDP-a-D-Galactose
  • UDP-alpha-D-Galactose
  • UDP-alpha-delta-Galactose
2956-16-3
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

Inhibitory RNA Products

Clone Products

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, MaxQB, and MOPED for C1GALT1 Gene



Protein tissue co-expression partners for C1GALT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1GALT1 Gene:

C1GALT1

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

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
cow
(Bos Taurus)
Mammalia C1GALT1 34
  • 90.5 (n)
  • 91.06 (a)
C1GALT1 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1GALT1 34
  • 92.85 (n)
  • 93.59 (a)
C1GALT1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1galt1 34
  • 88.98 (n)
  • 89.26 (a)
C1galt1 16
C1galt1 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C1GALT1 34
  • 99.36 (n)
  • 99.17 (a)
C1GALT1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1galt1 34
  • 89.16 (n)
  • 89.81 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia C1GALT1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1GALT1 34
  • 78.32 (n)
  • 80.52 (a)
C1GALT1 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1GALT1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1galt1 34
  • 69.8 (n)
  • 75.21 (a)
zebrafish
(Danio rerio)
Actinopterygii wufa98f05 34
C1GALT1 (3 of 4) 35
  • 51 (a)
OneToMany
C1GALT1 (4 of 4) 35
  • 58 (a)
OneToMany
c1galt1a 35
  • 47 (a)
OneToMany
c1galt1b 35
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9632 34
fruit fly
(Drosophila melanogaster)
Insecta CG13904 36
  • 42 (a)
CG2975 36
  • 42 (a)
CG2983 36
  • 34 (a)
CG3119 36
  • 38 (a)
CG7440 36
  • 41 (a)
CG8708 36
  • 54 (a)
CG9520 36
  • 50 (a)
C1GalTA 34
  • 52.46 (n)
  • 52.35 (a)
C1GalTA 35
  • 42 (a)
OneToMany
CG18558 35
  • 18 (a)
OneToMany
CG2975 35
  • 32 (a)
OneToMany
CG2983 35
  • 28 (a)
OneToMany
CG3119 35
  • 32 (a)
OneToMany
CG34056 35
  • 35 (a)
OneToMany
CG34057 35
  • 33 (a)
OneToMany
CG8708 35
  • 36 (a)
OneToMany
tgy 35
  • 32 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009979 34
  • 55.22 (n)
  • 52.24 (a)
worm
(Caenorhabditis elegans)
Secernentea C38H2.2 36
  • 52 (a)
F56H6.1 36
  • 33 (a)
C38H2.2 34
  • 54.67 (n)
  • 50.46 (a)
C38H2.2 35
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for C1GALT1 was found in the sources mined by GeneCards:
  • 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
rs2108781 -- 7,229,743(-) ATTCA(A/G)GTTGG intron-variant
rs2108782 -- 7,229,721(-) ATCTT(C/T)ATATC intron-variant
rs2108783 -- 7,227,236(-) ataac(A/C)CTaca intron-variant
rs2108784 -- 7,227,114(-) gacat(C/T)tgtaa intron-variant
rs2108785 -- 7,227,100(-) GACCC(C/T)CATCC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv6249n100 CNV gain 25217958
esv2752174 CNV gain 17911159
esv2759505 CNV loss 17122850
esv3571612 CNV loss 25503493
esv3576288 CNV gain 25503493
esv3612065 CNV gain 21293372
esv3612067 CNV gain 21293372
esv3891032 CNV gain 25118596
nsv1020929 CNV gain 25217958
nsv1023133 CNV gain 25217958
nsv1032974 CNV loss 25217958
nsv464300 CNV gain 19166990
nsv464301 CNV gain 19166990
nsv469770 CNV loss 16826518
nsv477417 CNV novel sequence insertion 20440878
nsv508445 CNV deletion 20534489
nsv606033 CNV gain 21841781
nsv606035 CNV gain 21841781
nsv606036 CNV loss 21841781
nsv8041 CNV loss 18304495

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)
C1GALT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1GALT1

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

Disorders for C1GALT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C1GALT1 Gene - From: DISEASES

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

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. 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 22 46 65
  2. Interaction between variants of two glycosyltransferase genes in IgA nephropathy. (PMID: 19357720) Zhu L. … Wang H. (Kidney Int. 2009) 3 4 46 65
  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 22 46 65
  4. Cloning and expression of human core 1 beta1,3- galactosyltransferase. (PMID: 11677243) Ju T. … Canfield W.M. (J. Biol. Chem. 2002) 2 3 4 65
  5. 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 22 65

Products for C1GALT1 Gene

Sources for C1GALT1 Gene

Content