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Aliases for C1GALT1C1 Gene

Aliases for C1GALT1C1 Gene

  • C1GALT1-Specific Chaperone 1 2 3
  • C1GALT2 3 4 6
  • COSMC 3 4 6
  • 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
  • C1Gal-T2 3 4
  • C38H2-L1 3 4
  • TNPS 3 6
  • Beta 1,3-Galactosyltransferase 2 3
  • HSPC067 3
  • MST143 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 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 polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is C1GALT1.

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).

No data available for 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

Genomic Location for C1GALT1C1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for C1GALT1C1 Gene at MOPED

Post-translational modifications for C1GALT1C1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1GALT1C1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for C1GALT1C1 Gene

Domains for C1GALT1C1 Gene

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 :
  • Q96EU7
Family:
  • Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
genes like me logo Genes that share domains with C1GALT1C1: view

No data available for Gene Families for C1GALT1C1 Gene

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).

Gene Ontology (GO) - Molecular Function for C1GALT1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS --
GO:0005515 protein binding IPI 21496458
genes like me logo Genes that share ontologies with C1GALT1C1: view
genes like me logo Genes that share phenotypes with C1GALT1C1: view

Animal Models for C1GALT1C1 Gene

MGI Knock Outs for C1GALT1C1:

miRNA for C1GALT1C1 Gene

miRTarBase miRNAs that target C1GALT1C1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for C1GALT1C1 Gene COMPARTMENTS Subcellular localization image for C1GALT1C1 gene
Compartment Confidence
golgi apparatus 4
endoplasmic reticulum 2
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C1GALT1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
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 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 TAS --
GO:0016266 O-glycan processing TAS --
GO:0030168 platelet activation IEA --
GO:0036344 platelet morphogenesis IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with C1GALT1C1: view

Transcripts for C1GALT1C1 Gene

mRNA/cDNA for C1GALT1C1 Gene

Unigene Clusters for C1GALT1C1 Gene

C1GALT1-specific chaperone 1:
Representative Sequences:

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 for C1GALT1C1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C1GALT1C1 Gene

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.
genes like me logo Genes that share expressions with C1GALT1C1: view

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 35
  • 99.9 (n)
  • 100 (a)
C1GALT1C1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1GALT1C1 35
  • 93.4 (n)
  • 94.65 (a)
C1GALT1C1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1GALT1C1 35
  • 94.03 (n)
  • 94.97 (a)
C1GALT1C1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1galt1c1 35
  • 91.24 (n)
  • 93.67 (a)
C1galt1c1 16
C1galt1c1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1GALT1C1 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1galt1c1 35
  • 90.93 (n)
  • 93.35 (a)
chicken
(Gallus gallus)
Aves C1GALT1C1 35
  • 73.69 (n)
  • 74.53 (a)
C1GALT1C1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1GALT1C1 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16222 35
tropical clawed frog
(Silurana tropicalis)
Amphibia c1galt1c1 35
  • 66.46 (n)
  • 66.88 (a)
zebrafish
(Danio rerio)
Actinopterygii c1galt1c1 35
  • 60.04 (n)
  • 52.56 (a)
c1galt1c1 36
  • 53 (a)
OneToOne
wufc17f08 35
fruit fly
(Drosophila melanogaster)
Insecta CG34451 36
  • 25 (a)
OneToMany
CG34452 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bus-4 36
  • 15 (a)
OneToMany
C02H6.1 36
  • 17 (a)
OneToMany
C16D9.6 36
  • 19 (a)
OneToMany
C17A2.3 36
  • 15 (a)
OneToMany
E03H4.3 36
  • 17 (a)
OneToMany
F56H6.1 36
  • 18 (a)
OneToMany
T09E11.12 36
  • 19 (a)
OneToMany
Y38C1AB.1 36
  • 22 (a)
OneToMany
Y38C1AB.5 36
  • 22 (a)
OneToMany
Species with no ortholog for C1GALT1C1:
  • 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

Pseudogenes.org Pseudogenes 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 MAF
rs3810744 -- 120,630,185(-) AGTGT(A/G)CGCGC upstream-variant-2KB
rs5909739 -- 120,627,766(+) TCCAA(C/T)ACAGT intron-variant
rs5957424 -- 120,629,476(+) TAAAA(A/T)AATTT intron-variant
rs7879308 -- 120,632,128(+) aaaaa(A/T)aaaat upstream-variant-2KB
rs10687222 -- 120,629,577(+) GAAAC(-/TT)AAAAC intron-variant

Relevant External Links for C1GALT1C1 Gene

HapMap Linkage Disequilibrium report
C1GALT1C1
Locus Specific Mutation Databases (LSDB)
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

MalaCards: The human disease database. (2) Diseases for C1GALT1C1 Gene including...

Search for C1GALT1C1 Gene in MalaCards »

(1) OMIM Diseases for C1GALT1C1 Gene (300611)

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.

(1) University of Copenhagen DISEASES for C1GALT1C1 Gene

Relevant External Links for C1GALT1C1

Genetic Association Database (GAD)
C1GALT1C1
Human Genome Epidemiology (HuGE) Navigator
C1GALT1C1
genes like me logo Genes that share disorders with C1GALT1C1: view

Publications for C1GALT1C1 Gene

  1. New mutations in C1GALT1C1 in individuals with Tn positive phenotype. (PMID: 18537974) Crew V.K. … Anstee D.J. (Br. J. Haematol. 2008) 3 4 23
  2. Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy? (PMID: 19778426) Li G.S. … Wang H.Y. (BMC Med. Genet. 2009) 3 23 48
  3. A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase. (PMID: 12464682) Ju T. … Cummings R.D. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  4. 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 23 48
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4

Products for C1GALT1C1 Gene

Sources for C1GALT1C1 Gene

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