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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C1GALT1 Gene

protein-coding   GIFtS: 57
GCID: GC07P007196

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

  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 glomerulonephritis, and among its related super-pathways are Mucin type O-Glycan biosynthesis and Post-translational protein modification. GO annotations related to this gene include glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity and metal ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C1GALT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
7,288,251 bp from pter
Size:
91,687 bases      Orientation:
plus strand

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Single-pass type II membrane protein (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NS00

  • 4/7 DME Specific Peptides for C1GALT1 (Q9NS00) (see all 7)
     YHLRPYG  KADDDTY  EGPGCCSD  HYLEDADWF 

    C1GALT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1GALT1 Protein Expression
    REFSEQ proteins: NP_064541.1  
    ENSEMBL proteins: 
     ENSP00000407666   ENSP00000415400   ENSP00000223122   ENSP00000384550   ENSP00000389176  
    Reactome Protein details: Q9NS00
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    Cloud-Clone Corp. Proteins for C1GALT1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    C1GALT1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    C1GALT1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    C1GALT1 for ontologies           About GeneDecksing


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

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for C1galt1):
     cardiovascular system  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  nervous system  renal/urinary system  reproductive system 

    C1GALT1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for C1GALT1 
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    SwitchGear 3'UTR luciferase reporter plasmidC1GALT1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for C1GALT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.44
    Mucin type O-Glycan biosynthesis0.44
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for C1GALT1
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    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


    C1GALT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1GALT1

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

    5/49 Interacting proteins for C1GALT1 (Q9NS002, 3 ENSP000002231224) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1GALT1C1Q96EU72, 3, ENSP000003043644MINT-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): 5/7 biological process terms (GO ID links to tree view) (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--

    C1GALT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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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--

    Search CenterWatch for drugs/clinical trials and news about C1GALT1 / C1GLT

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 

    24/164 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C1GALT1 expression in normal human tissues (normalized intensities)      C1GALT1 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Mesenchymal Stem Cells (Muscoskeletal System)    fully expand to see all 3 entries
             Human Mesenchymal Stem Cells (hMSC)-1   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   

    See C1GALT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1GALT1

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for C1GALT1 gene from 6/14 species (see all 14)    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 78.22(n)
    80.52(a)
      420575  NM_001012557.1  NP_001012575.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1GALT16
    --
    Uncharacterized protein
    74(a)
    57(a)
    1 ↔ 1
    possible ortholog
    6(23562204-23569499)
    GL343536.1(439437-466716)
    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
    52.14(n)1
    52.35(a)1
      44B83
    342151  NM_135414.21  NP_609258.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C38H2.21 , 3 Protein C38H2.21 52(a)
    (best of 2)3
    57.21(n)1
    53.72(a)1
      III(10451059-10456417)3
    1764551  NM_066892.71  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)
    About This Section
    Paralogs for C1GALT1 gene
    C1GALT1C12  

    C1GALT1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1837 SNPs in C1GALT1 are shown (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 - 7288251 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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610555    OMIM disorders: --

    4 diseases for C1GALT1:    About MalaCards
    iga glomerulonephritis    glomerulonephritis    purpura    nephritis

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

    C1GALT1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for C1GALT1 gene, integrated from 9 sources (see all 38):
    (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. (2007)
    2. Interaction between variants of two glycosyltransferase genes in IgA nephropathy. (PubMed id 19357720)1, 2, 4 Zhu L.... Wang H. (2009)
    3. Cloning and expression of human core 1 beta1,3- galactosyltransferase. (PubMed id 11677243)1, 2, 3 Ju T.... Canfield W.M. (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. (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. (2010)
    6. Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy. (PubMed id 19229831)1, 4 Pirulli D....Amoroso A. (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. (2008)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    9. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 3 Amado M.... Clausen H. (1999)
    10. Immunocytochemical analysis for intracellular dynamics of C1GalT associated with molecular chaperone, Cosmc. (PubMed id 18061573)1, 9 Narimatsu Y....Narimatsu H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 56913 HGNC: 24337 AceView: C1GALT1 Ensembl:ENSG00000106392 euGenes: HUgn56913
    ECgene: C1GALT1 Kegg: 56913 H-InvDB: C1GALT1

    (According to HUGE)
    About This Section
      --

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