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Aliases for C1GALT1C1 Gene

Aliases for C1GALT1C1 Gene

  • C1GALT1 Specific Chaperone 1 2 3 5
  • Core 1 Beta3-Galactosyltransferase-Specific Molecular Chaperone 3 4
  • Core 1 Beta1,3-Galactosyltransferase 2 3 4
  • C38H2-Like Protein 1 3 4
  • Core 1 Beta3-Gal-T2 3 4
  • C38H2-L1 3 4
  • C1GALT2 3 4
  • COSMC 3 4
  • Beta 1,3-Galactosyltransferase 2 3
  • C1GALT1-Specific Chaperone 1 3
  • C1Gal-T2 4
  • HSPC067 3
  • MST143 3
  • TNPS 3

External Ids for C1GALT1C1 Gene

Previous GeneCards Identifiers for C1GALT1C1 Gene

  • GC0XM119542
  • GC0XM119643
  • GC0XM119759
  • GC0XM109224

Summaries for C1GALT1C1 Gene

Entrez Gene Summary for C1GALT1C1 Gene

  • This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]

GeneCards Summary for C1GALT1C1 Gene

C1GALT1C1 (C1GALT1 Specific Chaperone 1) is a Protein Coding gene. Diseases associated with C1GALT1C1 include Tn Polyagglutination Syndrome, Somatic and Wound Botulism. Among its related pathways are Mucin type O-glycan biosynthesis and O-linked glycosylation. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is C1GALT1C1L.

UniProtKB/Swiss-Prot for C1GALT1C1 Gene

  • Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).

Additional gene information for C1GALT1C1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1GALT1C1 Gene

Genomics for C1GALT1C1 Gene

Regulatory Elements for C1GALT1C1 Gene

Enhancers for C1GALT1C1 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
GH0XH120548 1.2 Ensembl ENCODE 11.9 +80.2 80198 3 PKNOX1 FOXA2 ATF1 TCF12 ZNF766 ELK1 ATF7 FOS NCOA1 TSHZ1 C1GALT1C1 NKAPP1 CUL4B GC0XM120506
GH0XH120558 1 ENCODE 13.8 +69.0 69036 5 ATF1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 YY1 GLIS2 ELK1 KLF7 C1GALT1C1 UPF3B LINC01402 CUL4B GC0XM120506
GH0XH120628 1 ENCODE 9.3 +0.2 150 2 PKNOX1 ATF1 ZNF493 SIN3A ZNF2 YY1 GLIS2 ZNF143 ZNF207 ATF7 CUL4B NKAP EEF1A1P30 NKAPP1 UPF3B C1GALT1C1 MCTS1
GH0XH120671 0.9 Ensembl ENCODE 9.2 -42.5 -42456 2 JUN NR3C1 RAD21 RFX5 RARA CTBP1 JUND GATA3 ZNF316 FOS C1GALT1C1 ENSG00000278317
GH0XH120734 1 Ensembl ENCODE 5.3 -105.9 -105925 3 PKNOX1 JUN MAX ZIC2 CTBP1 ZNF316 GATA3 FOS NFE2 RCOR1 C1GALT1C1 LOC100128546 PA2G4P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C1GALT1C1 on UCSC Golden Path with GeneCards custom track

Promoters for C1GALT1C1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248430 250 1801 PKNOX1 ATF1 ZNF493 SIN3A ZNF2 YY1 GLIS2 ZNF143 ZNF207 ATF7

Genomic Location for C1GALT1C1 Gene

Chromosome:
X
Start:
120,625,674 bp from pter
End:
120,630,150 bp from pter
Size:
4,477 bases
Orientation:
Minus strand

Genomic View for C1GALT1C1 Gene

Genes around C1GALT1C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1GALT1C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1GALT1C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1GALT1C1 Gene

Proteins for C1GALT1C1 Gene

  • Protein details for C1GALT1C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EU7-C1GLC_HUMAN
    Recommended name:
    C1GALT1-specific chaperone 1
    Protein Accession:
    Q96EU7
    Secondary Accessions:
    • A8K246
    • Q8WWS3
    • Q9NZX1

    Protein attributes for C1GALT1C1 Gene

    Size:
    318 amino acids
    Molecular mass:
    36382 Da
    Quaternary structure:
    • Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.
    Miscellaneous:
    • Defects in C1GALT1C1 in Ag104A cell line create a tumor-specific glycopeptidic neo-epitope. This epitope induces a high-affinity, highly specific, syngeneic monoclonal antibody. This is caused by the abolition of function of a glycosyltransferase, disrupting O-glycan Core 1 synthesis.
    SequenceCaution:
    • Sequence=AAF29039.1; Type=Frameshift; Positions=16, 22, 24, 25; Evidence={ECO:0000305}; Sequence=CAC80277.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for C1GALT1C1 Gene

Post-translational modifications for C1GALT1C1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1GALT1C1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1GALT1C1 Gene

Domains & Families for C1GALT1C1 Gene

Gene Families for C1GALT1C1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for C1GALT1C1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1GALT1C1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96EU7

UniProtKB/Swiss-Prot:

C1GLC_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 C1GALT1C1: view

Function for C1GALT1C1 Gene

Molecular function for C1GALT1C1 Gene

UniProtKB/Swiss-Prot Function:
Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).

Phenotypes From GWAS Catalog for C1GALT1C1 Gene

Gene Ontology (GO) - Molecular Function for C1GALT1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21496458
GO:0016263 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IBA --
genes like me logo Genes that share ontologies with C1GALT1C1: view
genes like me logo Genes that share phenotypes with C1GALT1C1: view

Human Phenotype Ontology for C1GALT1C1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C1GALT1C1 Gene

MGI Knock Outs for C1GALT1C1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C1GALT1C1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for C1GALT1C1 Gene

Localization for C1GALT1C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1GALT1C1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1GALT1C1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C1GALT1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with C1GALT1C1: view

Pathways & Interactions for C1GALT1C1 Gene

genes like me logo Genes that share pathways with C1GALT1C1: view

Pathways by source for C1GALT1C1 Gene

Gene Ontology (GO) - Biological Process for C1GALT1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation IMP 21383503
GO:0016266 O-glycan processing TAS --
GO:0016267 O-glycan processing, core 1 IBA --
GO:0030168 platelet activation IEA --
GO:0036344 platelet morphogenesis IEA --
genes like me logo Genes that share ontologies with C1GALT1C1: view

No data available for SIGNOR curated interactions for C1GALT1C1 Gene

Drugs & Compounds for C1GALT1C1 Gene

No Compound Related Data Available

Transcripts for C1GALT1C1 Gene

mRNA/cDNA for C1GALT1C1 Gene

Unigene Clusters for C1GALT1C1 Gene

C1GALT1-specific chaperone 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C1GALT1C1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C1GALT1C1 Gene

No ASD Table

Relevant External Links for C1GALT1C1 Gene

GeneLoc Exon Structure for
C1GALT1C1
ECgene alternative splicing isoforms for
C1GALT1C1

Expression for C1GALT1C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1GALT1C1 Gene

Protein differential expression in normal tissues from HIPED for C1GALT1C1 Gene

This gene is overexpressed in Blymphocyte (29.1), Placenta (22.2), and Islet of Langerhans (17.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C1GALT1C1 Gene



Protein tissue co-expression partners for C1GALT1C1 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1GALT1C1 Gene:

C1GALT1C1

SOURCE GeneReport for Unigene cluster for C1GALT1C1 Gene:

Hs.643920

mRNA Expression by UniProt/SwissProt for C1GALT1C1 Gene:

Q96EU7-C1GLC_HUMAN
Tissue specificity: Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.

Evidence on tissue expression from TISSUES for C1GALT1C1 Gene

  • Blood(4.3)
  • Nervous system(4.2)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C1GALT1C1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
Organs:
General:
  • blood
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with C1GALT1C1: 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 C1GALT1C1 Gene

Orthologs for C1GALT1C1 Gene

This gene was present in the common ancestor of animals.

Orthologs for C1GALT1C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1GALT1C1 33 34
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia C1GALT1C1 33 34
  • 94.03 (n)
cow
(Bos Taurus)
Mammalia C1GALT1C1 33 34
  • 93.4 (n)
mouse
(Mus musculus)
Mammalia C1galt1c1 33 16 34
  • 91.24 (n)
rat
(Rattus norvegicus)
Mammalia C1galt1c1 33
  • 90.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C1GALT1C1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1GALT1C1 33 34
  • 73.69 (n)
lizard
(Anolis carolinensis)
Reptilia C1GALT1C1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1galt1c1 33
  • 66.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16222 33
zebrafish
(Danio rerio)
Actinopterygii c1galt1c1 33 34
  • 60.04 (n)
wufc17f08 33
fruit fly
(Drosophila melanogaster)
Insecta CG34451 34
  • 25 (a)
OneToMany
CG34452 34
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y38C1AB.1 34
  • 22 (a)
OneToMany
Y38C1AB.5 34
  • 22 (a)
OneToMany
C16D9.6 34
  • 19 (a)
OneToMany
T09E11.12 34
  • 19 (a)
OneToMany
F56H6.1 34
  • 18 (a)
OneToMany
C02H6.1 34
  • 17 (a)
OneToMany
E03H4.3 34
  • 17 (a)
OneToMany
bus-4 34
  • 15 (a)
OneToMany
C17A2.3 34
  • 15 (a)
OneToMany
Species where no ortholog for C1GALT1C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 C1GALT1C1 Gene

ENSEMBL:
Gene Tree for C1GALT1C1 (if available)
TreeFam:
Gene Tree for C1GALT1C1 (if available)

Paralogs for C1GALT1C1 Gene

Paralogs for C1GALT1C1 Gene

genes like me logo Genes that share paralogs with C1GALT1C1: view

Variants for C1GALT1C1 Gene

Sequence variations from dbSNP and Humsavar for C1GALT1C1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs137853599 Pathogenic, Tn polyagglutination syndrome (TNPS) [MIM:300622] 120,626,713(-) TCATT(A/G)AAAAC reference, missense
rs397514537 Pathogenic, Tn polyagglutination syndrome (TNPS) [MIM:300622] 120,626,590(-) TAGAA(C/T)CAATG reference, missense
rs137853598 Pathogenic 120,626,965(-) GCTTT(C/T)GAGTA reference, stop-gained
rs17261572 Pathogenic 120,626,774(+) TACTT(A/T)TCAAA reference, missense
rs587776928 Pathogenic 120,627,164(+) GAAAG(C/G)ATTTT reference, missense

Variation tolerance for C1GALT1C1 Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1GALT1C1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1GALT1C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for C1GALT1C1 Gene

Disorders for C1GALT1C1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C1GALT1C1 Gene - From: OMIM, ClinVar, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
tn polyagglutination syndrome, somatic
  • tn polyagglutination syndrome
wound botulism
  • cutaneous infectious botulism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C1GLC_HUMAN
  • Tn polyagglutination syndrome (TNPS) [MIM:300622]: A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. {ECO:0000269 PubMed:16251947, ECO:0000269 PubMed:18537974}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C1GALT1C1

Genetic Association Database (GAD)
C1GALT1C1
Human Genome Epidemiology (HuGE) Navigator
C1GALT1C1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1GALT1C1
genes like me logo Genes that share disorders with C1GALT1C1: view

No data available for Genatlas for C1GALT1C1 Gene

Publications for C1GALT1C1 Gene

  1. Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy? (PMID: 19778426) Li GS … Wang HY (BMC medical genetics 2009) 3 22 45 60
  2. New mutations in C1GALT1C1 in individuals with Tn positive phenotype. (PMID: 18537974) Crew VK … Anstee DJ (British journal of haematology 2008) 3 4 22 60
  3. Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. (PMID: 17228361) Li GS … Wang HY (Kidney international 2007) 3 22 45 60
  4. A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase. (PMID: 12464682) Ju T … Cummings RD (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 22 60
  5. Molecular cloning and characterization of a novel UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan. (PMID: 12361956) Kudo T … Narimatsu H (The Journal of biological chemistry 2002) 2 3 4 60

Products for C1GALT1C1 Gene

Sources for C1GALT1C1 Gene

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