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C1GALT1C1 Gene

protein-coding   GIFtS: 53
GCID: GC0XM119759

C1GALT1-Specific Chaperone 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
C1GALT1-Specific Chaperone 11 2     C38H2-Like Protein 12 3
COSMC2 3 5     C1GALT22 5
Core 1 Beta1,3-Galactosyltransferase 22 3     TNPS2 5
Core 1 Beta3-Gal-T22 3     MST1432
Core 1 Beta3-Galactosyltransferase-Specific Molecular Chaperone2 3     Beta 1,3-Galactosyltransferase 22
C1Gal-T22 3     C1GalT23
C38H2-L12 3     

External Ids:    HGNC: 243381   Entrez Gene: 290712   Ensembl: ENSG000001711557   OMIM: 3006115   UniProtKB: Q96EU73   

Export aliases for C1GALT1C1 gene to outside databases

Previous GC identifers: GC0XM119542 GC0XM119643 GC0XM109224


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is C1GALT1.

UniProtKB/Swiss-Prot: C1GLC_HUMAN, Q96EU7
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1GALT1C1 gene promoter:
         C/EBPbeta   AP-1   AML1a   NRSF form 1   Pax-2   CUTL1   Pax-2a   NRSF form 2   Evi-1   SRY   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC1GALT1C1 promoter sequence
   Search Chromatin IP Primers for C1GALT1C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1GALT1C1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq24

C1GALT1C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1GALT1C1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM119759:  view genomic region     (about GC identifiers)

Start:
119,759,529 bp from pter      End:
119,764,005 bp from pter
Size:
4,477 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: C1GLC_HUMAN, Q96EU7 (See protein sequence)
Recommended Name: C1GALT1-specific chaperone 1  
Size: 318 amino acids; 36382 Da
Subunit: 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
Caution: Was originally (PubMed:12361956) assigned to be a glycosyltransferase. However, it was later shown (Ref.2
and PubMed:12464682) that it has no transferase activity and rather acts as a chaperone
Sequence caution: Sequence=AAF29039.1; Type=Frameshift; Positions=16, 22, 24, 25; Sequence=CAC80277.1;
Type=Erroneous initiation;
Secondary accessions: A8K246 Q8WWS3 Q9NZX1

Explore the universe of human proteins at neXtProt for C1GALT1C1: NX_Q96EU7

Explore proteomics data for C1GALT1C1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C1GALT1C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001011551.1  NP_689905.1  

    ENSEMBL proteins: 
     ENSP00000304364   ENSP00000360363  
    Reactome Protein details: Q96EU7

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026731 C1GALT1C1

    Graphical View of Domain Structure for InterPro Entry Q96EU7

    ProtoNet protein and cluster: Q96EU7

    UniProtKB/Swiss-Prot: C1GLC_HUMAN, Q96EU7
    Similarity: Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily


    C1GALT1C1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C1GLC_HUMAN, Q96EU7
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity TAS--
    GO:0005515protein binding IPI--
         
    C1GALT1C1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for C1galt1c1):
     cardiovascular system  embryogenesis  growth/size/body  mortality/aging  nervous system 
     no phenotypic analysis 

    C1GALT1C1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out C1galt1c1tm1.2Rdcu for C1GALT1C1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1GALT1C1
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    2 qRT-PCR Assays for microRNAs that regulate C1GALT1C1:
    hsa-miR-448 hsa-miR-548p
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    C1GLC_HUMAN, Q96EU7: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    endoplasmic reticulum2
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    C1GALT1C1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for C1GALT1C1 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Mucin type O-Glycan biosynthesis0.47
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for C1GALT1C1
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for C1GALT1C1):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways


    C1GALT1C1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including C1GALT1C1: 
              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for C1GALT1C1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for C1GALT1C1 (Q96EU71, 2, 3 ENSP000003043644) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1GALT1Q9NS001, 2, 3, ENSP000002231224EBI-2837343,EBI-8628584 MINT-8152035 MINT-8151793 MINT-8152092 MINT-8152105 I2D: score=2 STRING: ENSP00000223122
    LGALS3P179313, ENSP000002543014I2D: score=1 STRING: ENSP00000254301
    B3GNT2Q9NY973, ENSP000003055954I2D: score=1 STRING: ENSP00000305595
    B3GNT6ENSP000003462564STRING: ENSP00000346256
    B3GNT7ENSP000002875904STRING: ENSP00000287590
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    C1GALT1C1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C1GALT1C1 (C1GLC)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C1GALT1C1 gene (2 alternative transcripts): 
    NM_001011551.2  NM_152692.4  

    Unigene Cluster for C1GALT1C1:

    C1GALT1-specific chaperone 1
    Hs.643920  [show with all ESTs]
    Unigene Representative Sequence: BC012502
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304661(uc004esy.3 uc004esz.3) ENST00000371313
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    hsa-miR-448 hsa-miR-548p
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    Additional mRNA sequence: 

    AB084170.1 AF088029.1 AF161552.1 AF177284.1 AJ238398.1 AK290111.1 AY159319.1 AY358642.1 
    BC011930.2 BC012502.1 BC050441.1 

    8 DOTS entries:

    DT.412999  DT.100800161  DT.100800158  DT.40296651  DT.100800159  DT.121311129  DT.95273885  DT.100655219 

    Selected AceView cDNA sequences (see all 152):

    AA824633 AA769345 AL119795 AI352559 AA628664 CB128044 CB140163 AI753811 
    AY358642 CA952521 CA488578 BX280908 CB528745 W39664 AI889484 CA941163 
    CD365003 CD637930 CN482338 CR593612 AI365258 AF088029 AA278512 CB991578 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    C1GALT1C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACATTGTAA
    C1GALT1C1 Expression
    About this image

    C1GALT1C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1GALT1C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643920

    UniProtKB/Swiss-Prot: C1GLC_HUMAN, Q96EU7
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for C1GALT1C1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1galt1c11 , 5 C1GALT1-specific chaperone 11, 5 91.24(n)1
    93.67(a)1
      X (22.91 cM)5
    590481  NM_021550.31  NP_067525.11 
     386307855 
    chicken
    (Gallus gallus)
    Aves C1GALT1C11 C1GALT1-specific chaperone 1 73.69(n)
    74.53(a)
      422362  NM_001277789.1  NP_001264718.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1GALT1C16
    C1GALT1-specific chaperone 1
    73(a)
    1 ↔ 1
    GL343839.1(41320-42270)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.162222 Xenopus laevis transcribed sequence with moderate similarity more 74.29(n)    BJ037761.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc17f082 wufc17f08 71.61(n)   324052  BC054694.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG344516
    CG344526
    --
    25(a)
    21(a)
    many → 1
    many → 1
    3L(15681844-15685147)
    3L(15679452-15680732)
    worm
    (Caenorhabditis elegans)
    Secernentea Y38C1AB.56
    Y38C1AB.16
    (see all 9)
    Protein Y38C1AB.5 (Y38C1AB.5) mRNA, complete cds
    (see all 9)
    22(a)
    22(a)
    (see all 9)
    many → 1
    many → 1
    (see all 9)
    IV(8765-11070) WBGene00021407
    IV(36809-39114) WBGene00021403


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C1GALT1C1 gene
    C1GALT12  

    C1GALT1C1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C1GALT1C1
    PGOHUM00000240027


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C1GALT1C1 (see all 953)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692754
    Tn polyagglutination syndrome (TNPS)4--see VAR_0692752 S P mis40--------
    rs172615721,2,,4
    C,F,Hother1119754511(+) TACTTA/TTCAAA 4 E D mis1 ese324--NA NS EA 6959
    rs59109411,2
    C,F,A,H--109230360(+) TCAAGC/TGGGGA 2 -- us2k1 tfbs310Minor allele frequency- T:0.40NS EA NA WA CSA 427
    rs1883483111,2
    --119752933(+) CAGGTA/GTGGTG 2 -- ds50010--------
    rs1808167991,2
    --119753378(+) CAATTG/TTGTAA 2 -- ds50010--------
    rs1379729281,2
    --119753488(+) CTTGGC/GGAGGC 2 -- ut310--------
    rs1864131541,2
    --119753585(+) TTGCAG/TATCTT 2 -- ut310--------
    rs2002362641,2
    C--119753688(+) ATATA-/TATT  
            
    ATTTA
    2 -- ut310--------
    rs563321411,2
    C--119753809(-) ACATTA/C/G/
            
    AAGTC
    6 -- ut310--------
    rs557608531,2
    F--119753843(-) TTCTTA/G/TTCTAA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for C1GALT1C1 (119759529 - 119764005 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C1GALT1C1: --
    Locus Specific Mutation Databases (LSDB): C1GALT1C1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300611   
    OMIM disorders: 300622  
    UniProtKB/Swiss-Prot: C1GLC_HUMAN, Q96EU7
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 11 diseases for C1GALT1C1:    
    About MalaCards
    tn polyagglutination syndrome, somatic    iga glomerulonephritis    leukopenia    glomerulonephritis
    tonsillitis    thrombocytopenia    hemangioma    multiple myeloma
    myeloma    leukemia    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for C1GALT1C1:
    IgA glomerulonephritis

    C1GALT1C1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C1GALT1C1
    Human Genome Epidemiology (HuGE) Navigator: C1GALT1C1 (2 documents)

    Export disorders for C1GALT1C1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for C1GALT1C1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with C1GALT1C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 12361956)1, 2, 3 Kudo T.... Narimatsu H. (J. Biol. Chem. 2002)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    3. Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy? (PubMed id 19778426)1, 4, 9 Li G.S....Wang H.Y. (BMC Med. Genet. 2009)
    4. New mutations in C1GALT1C1 in individuals with Tn positive phenotype. (PubMed id 18537974)1, 2, 9 Crew V.K....Anstee D.J. (Br. J. Haematol. 2008)
    5. Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. (PubMed id 17228361)1, 4, 9 Li G.-S.... Wang H.-Y. (Kidney Int. 2007)
    6. A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase. (PubMed id 12464682)1, 2, 9 Ju T. and Cummings R.D. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Protein glycosylation: chaperone mutation in Tn syndrome. (PubMed id 16251947)1, 2 Ju T. and Cummings R.D. (Nature 2005)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Human tumor antigens Tn and sialyl Tn arise from mutations in Cosmc. (PubMed id 18339842)1, 9 Ju T....Cummings R.D. (Cancer Res. 2008)
    10. COSMC is overexpressed in proliferating infantile hemangioma and enhances endothelial cell growth via VEGFR2. (PubMed id 23424651)1 Lee J....Huang M.C. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29071 HGNC: 24338 AceView: C1GALT2 Ensembl:ENSG00000171155 euGenes: HUgn29071
    ECgene: C1GALT1C1 Kegg: 29071 H-InvDB: C1GALT1C1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for C1GALT1C1 Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_443

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1GALT1C1 gene:
    Search GeneIP for patents involving C1GALT1C1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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