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C1GALT1 Gene

protein-coding   GIFtS: 58
GCID: GC07P007196

Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase,...

  See C1GALT1-related disease
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
Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine
3-Beta-Galactosyltransferase, 11 2
     C1GALT2
Core 1 Beta3-Gal-T12 3     T-synthase2
Core 1 O-Glycan T-Synthase2 3     Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 12
Core 1 UDP-Galactose:N-Acetylgalactosamine-Alpha-R Beta
1,3-Galactosyltransferase 12 3
     Beta-1,3-galactosyltransferase3
B3Gal-T82 3     C1GalT13
EC 2.4.1.1223 8     Core 1 Beta1,3-Galactosyltransferase 13
Core 1 Beta3-Gal-T1     

External Ids:    HGNC: 243371   Entrez Gene: 569132   Ensembl: ENSG000001063927   OMIM: 6105555   UniProtKB: Q9NS003   

Export aliases for C1GALT1 gene to outside databases

Previous GC identifers: GC07P006918 GC07P007018 GC07P007047 GC07P007240


(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 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. GO annotations related to this gene include glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. An important paralog of this gene is C1GALT1C1.

UniProtKB/Swiss-Prot: C1GLT_HUMAN, Q9NS00
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




(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 at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1GALT1 gene promoter:
         MAZR   Sp1   ATF-2   LCR-F1   GATA-1   HNF-1A   PPAR-alpha   Ik-2   HNF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C1GALT1 promoter sequence
   Search Chromatin IP Primers for C1GALT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1GALT1


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

Entrez Gene cytogenetic band: 7p21.3   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p21.3

C1GALT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1GALT1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P007196:  view genomic region     (about GC identifiers)

Start:
7,196,565 bp from pter      End:
7,288,282 bp from pter
Size:
91,718 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 7,269,406-7,335,413     

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: C1GLT_HUMAN, Q9NS00 (See protein sequence)
Recommended Name: Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1  
Size: 363 amino acids; 42203 Da
Cofactor: Magnesium (By similarity)
Subunit: 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
Secondary accessions: Q96QH4 Q9BTU1
Alternative splicing: 2 isoforms:  Q9NS00-1   Q9NS00-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C1GALT1: NX_Q9NS00

Explore proteomics data for C1GALT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for C1GALT1 (Q9NS00) (see all 7)
     YHLRPYG  KADDDTY  EGPGCCSD  HYLEDADWF 


    See C1GALT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064541.1  
    ENSEMBL proteins: 
     ENSP00000407666   ENSP00000415400   ENSP00000223122   ENSP00000384550   ENSP00000389176  
    Reactome Protein details: Q9NS00

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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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    HGNC Gene Families:
    B3GT: Beta 3-glycosyltransferases

    2 InterPro protein domains:
     IPR026842 C1GALT1
     IPR003378 Fringe-like

    Graphical View of Domain Structure for InterPro Entry Q9NS00

    ProtoNet protein and cluster: Q9NS00

    UniProtKB/Swiss-Prot: C1GLT_HUMAN, Q9NS00
    Similarity: Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily


    Find genes that share domains with C1GALT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C1GLT_HUMAN, Q9NS00
    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
    Catalytic activity: UDP-alpha-D-galactose + glycoprotein N-acetyl-D-galactosamine = UDP + glycoprotein
    D-galactosyl-(1->3)-N-acetyl-D-galactosamine

         Enzyme Number (IUBMB): EC 2.4.1.1221 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008378galactosyltransferase activity ----
    GO:0016263glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IDA11677243
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with C1GALT1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for C1GALT1:
     Cell division defect  Increased S DNA content  Increased cell size 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for C1galt1):
     cardiovascular system  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  nervous system  renal/urinary system 
     reproductive system 

    Find genes that share phenotypes with C1GALT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for C1GALT1: C1galt1tm1.2Staka C1galt1tm1Rpmc C1galt1tm1.2Rpmc

       genOway: Develop your customized and physiologically relevant rodent model for C1GALT1

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    miRTarBase miRNAs that target C1GALT1:
    hsa-mir-375 (MIRT019740), hsa-mir-98-5p (MIRT027469), hsa-mir-148b-3p (MIRT019301), hsa-let-7a-5p (MIRT052502), hsa-let-7b-5p (MIRT052034)

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    SwitchGear 3'UTR luciferase reporter plasmidC1GALT1 3' UTR sequence
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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
    C1GLT_HUMAN, Q9NS00: Membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    extracellular3
    cytosol1
    endoplasmic reticulum1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IDA11677243

    Find genes that share ontologies with C1GALT1           About GenesLikeMe


    (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 C1GALT1 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


    Find genes that share SuperPaths with C1GALT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for C1GALT1
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for C1GALT1):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: C1GLT_HUMAN, Q9NS00
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Array including C1GALT1: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for C1GALT1

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

    Selected Interacting proteins for C1GALT1 (Q9NS001, 2, 3 ENSP000002231224) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1GALT1C1Q96EU71, 2, 3, ENSP000003043644EBI-8628584,EBI-2837343 MINT-8152035 MINT-8151793 MINT-8152092 MINT-8152105 I2D: score=2 STRING: ENSP00000304364
    CTSLP077113I2D: score=2 
    EGLN1Q9GZT93I2D: score=2 
    NCDNQ9UBB63I2D: score=2 
    RPS25P628513I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IMP17228361
    GO:0001822kidney development IMP17228361
    GO:0006486protein glycosylation ----
    GO:0016266O-glycan processing TAS--
    GO:0030154cell differentiation IEA--

    Find genes that share ontologies with C1GALT1           About GenesLikeMe



    (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 Tocris compounds for C1GALT1 (C1GLT)

    2 HMDB Compounds for C1GALT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for C1GALT1 gene: 
    NM_020156.4  

    Unigene Cluster for C1GALT1:

    Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
    Hs.239666  [show with all ESTs]
    Unigene Representative Sequence: NM_020156
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429911 ENST00000419721 ENST00000467716 ENST00000476068(uc010ktm.1)
    ENST00000223122 ENST00000402468(uc010kto.2) ENST00000436587(uc003srb.2 uc003sra.3)

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    Additional mRNA sequence: 

    AF155582.1 AJ132443.1 AJ243256.1 AJ278960.1 AK023557.1 BC003174.1 

    4 DOTS entries:

    DT.453455  DT.95330504  DT.114862  DT.91925248 

    Selected AceView cDNA sequences (see all 164):

    AI825873 BX111399 AJ132443 AA404982 BM674220 BU735717 CR609701 F11087 
    AW513561 AJ278960 BM697525 AI192151 BU633938 BQ025029 BX348425 AA281824 
    AF155582 AW513574 D12064 BC003174 AI400132 AI458865 BX481488 BE349123 

    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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    C1GALT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGTAATAA
    C1GALT1 Expression
    About this image


    C1GALT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    C1GALT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1GALT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.239666

    UniProtKB/Swiss-Prot: C1GLT_HUMAN, Q9NS00
    Tissue specificity: Widely expressed. Highly expressed in kidney, heart, placenta and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including C1GALT1: 
              Glycosylation in human mouse rat

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    In Situ
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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 C1GALT1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1galt11 , 5 core 1 synthase, glycoprotein-N-acetylgalactosamine more1, 5 88.98(n)1
    89.26(a)1
      6 (3.37 cM)5
    941921  NM_052993.31  NP_443719.31 
     78448425 
    chicken
    (Gallus gallus)
    Aves C1GALT11 core 1 synthase, glycoprotein-N-acetylgalactosamine more 78.32(n)
    80.52(a)
      420575  NM_001012557.1  NP_001012575.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1GALT16
    core 1 synthase, glycoprotein-N-acetylgalactosamin...
    74(a)
    1 ↔ 1
    6(23562204-23569499)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c1galt11 core 1 synthase, glycoprotein-N-acetylgalactosamine more 69.8(n)
    75.21(a)
      100487794  XM_002938715.2  XP_002938761.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa98f052 wufa98f05 74.3(n)   337131  BC054714.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87083
    C1GalTA1
    Core 1 Galactosyltransferase A1 54(a)
    (best of 7)3
    52.46(n)1
    52.35(a)1
      44B83
    342151  NM_135414.21  NP_609258.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C38H2.21 , 3 C38H2.21 52(a)
    (best of 2)3
    54.67(n)1
    50.46(a)1
      III(10451059-10456417)3
    1764551  NM_066892.81  NP_499293.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C1GALT1 gene
    C1GALT1C12  

    Find genes that share paralogs with C1GALT1           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for C1GALT1
    PGOHUM00000239847 PGOHUM00000246759 PGOHUM00000235594 PGOHUM00000249358


    (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 C1GALT1 (see all 1837)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1171382451,2
    F--7192979(+) AGTTAT/CTAGCT 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1864344251,2
    --7192989(+) TGGGTA/GCCACA 1 -- us2k10--------
    rs624535151,2
    C,F--7193093(+) TCACAA/CCTGTG 1 -- us2k17Minor allele frequency- C:0.49NA WA EA 366
    rs1450099671,2
    --7193268(+) TAGGAA/CAGGGT 1 -- us2k10--------
    rs1148494541,2
    F--7193304(+) GTGTTA/CTTCTT 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs733353411,2
    C,F--7193393(+) TGAAAG/TAGTTC 1 -- us2k14Minor allele frequency- T:0.24CSA WA NA 241
    rs1891110741,2
    --7193439(+) CGGAAA/CGGTGG 1 -- us2k10--------
    rs624535161,2
    F--7193451(+) AGGATG/ATTGCG 1 -- us2k12Minor allele frequency- A:0.50NA CSA 4
    rs1388316851,2
    --7193470(+) GAAGGA/GTATTG 1 -- us2k10--------
    rs1399080441,2
    C--7193505(+) AAGGT-/GGGAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C1GALT1 (7196565 - 7288282 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for C1GALT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508445CNV Loss20534489
    nsv8041CNV Loss18304495
    nsv469770CNV Loss16826518
    nsv464301CNV Gain19166990
    nsv464300CNV Gain19166990
    esv2752174CNV Gain17911159
    essv19077CNV CNV17122850
    dgv2052e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): C1GALT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C1GALT1
    DNA2.0 Custom Variant and Variant Library Synthesis for C1GALT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610555    OMIM disorders: --

    1 disease for C1GALT1:    
    About MalaCards
    iga glomerulonephritis

    1 disease from the University of Copenhagen DISEASES database for C1GALT1:
    IgA glomerulonephritis

    Find genes that share disorders with C1GALT1           About GenesLikeMe

    1 Novoseek inferred disease relationship for C1GALT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nephropathy iga 64.4 1 17228361 (1)

    Genetic Association Database (GAD): C1GALT1
    Human Genome Epidemiology (HuGE) Navigator: C1GALT1 (5 documents)

    Export disorders for C1GALT1 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 C1GALT1 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with C1GALT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. (PubMed id 17228361)1, 2, 4, 9 Li G.-S.... Wang H.-Y. (Kidney Int. 2007)
    2. Interaction between variants of two glycosyltransferase genes in IgA nephropathy. (PubMed id 19357720)1, 2, 4 Zhu L.... Wang H. (Kidney Int. 2009)
    3. Cloning and expression of human core 1 beta1,3- galactosyltransferase. (PubMed id 11677243)1, 2, 3 Ju T.... Canfield W.M. (J. Biol. Chem. 2002)
    4. No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients. (PubMed id 18840896)1, 4, 9 Malycha F....Eitner F. (Nephrol. Dial. Transplant. 2009)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy. (PubMed id 19229831)1, 4 Pirulli D....Amoroso A. (J. Nephrol. 2009)
    7. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    9. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 3 Amado M.... Clausen H. (Biochim. Biophys. Acta 1999)
    10. Immunocytochemical analysis for intracellular dynamics of C1GalT associated with molecular chaperone, Cosmc. (PubMed id 18061573)1, 9 Narimatsu Y....Narimatsu H. (Biochem. Biophys. Res. Commun. 2008)

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

      Query String
    PubMed
    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: 56913 HGNC: 24337 AceView: C1GALT1 Ensembl:ENSG00000106392 euGenes: HUgn56913
    ECgene: C1GALT1 Kegg: 56913 H-InvDB: C1GALT1

    (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)
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    NameDescription
    PharmGKB entry for C1GALT1 Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_447

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1GALT1 gene:
    Search GeneIP for patents involving C1GALT1

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



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