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A4GALT Gene

protein-coding   GIFtS: 64
GCID: GC22M043088

Alpha 1,4-Galactosyltransferase

(Previous names: alpha 1,4-galactosyltransferase (globotriaosylceramide synthase,...)
  See A4GALT-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Alpha 1,4-Galactosyltransferase1 2     Gb3S2
CD77 Synthase1 2 3     P(k)2
Gb3 Synthase1 2 3     P12
Globotriaosylceramide Synthase1 2 3     PK2
Lactosylceramide 4-Alpha-Galactosyltransferase1 2     alpha-1,4-N-acetylglucosaminyltransferase2
A14GALT2 3     alpha4Gal-T12
A4GALT12 3     P Blood Group (P One Antigen)2
P1/Pk Synthase2 3     P(K) Antigen Synthase2
UDP-Galactose:Beta-D-Galactosyl-Beta1-R 4-Alpha-D-Galactosyltransferase2 3     Alpha-1,4-N-acetylglucosaminyltransferase3
EC 2.4.1.2283 8     Alpha-1,4-galactosyltransferase3
P1PK2 5     Alpha4Gal-T13
Alpha 1,4-Galactosyltransferase (Globotriaosylceramide Synthase, P Blood
Group)1
     

External Ids:    HGNC: 181491   Entrez Gene: 539472   Ensembl: ENSG000001282747   OMIM: 6079225   UniProtKB: Q9NPC43   
ORGUL members:         

Export aliases for A4GALT gene to outside databases

Previous GC identifers: GC22M039690 GC22M041319 GC22M041412 GC22M026048


(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 A4GALT Gene:
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form
globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded
protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the
bacterial verotoxins receptor. (provided by RefSeq, Jul 2008)

GeneCards Summary for A4GALT Gene:
A4GALT (alpha 1,4-galactosyltransferase) is a protein-coding gene. Diseases associated with A4GALT include nor polyagglutination syndrome. GO annotations related to this gene include lactosylceramide 4-alpha-galactosyltransferase activity and galactosyltransferase activity. An important paralog of this gene is A4GNT.

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
Function: Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of
galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial
verotoxins

Gene Wiki entry for A4GALT Gene


(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_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the A4GALT gene promoter:
         Max1   COUP-TF1   AP-1   COUP   HNF-4alpha2   HNF-4alpha1   CREB   COUP-TF   NF-kappaB1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidA4GALT promoter sequence
   Search Chromatin IP Primers for A4GALT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat A4GALT


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

A4GALT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
A4GALT gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M043088:  view genomic region     (about GC identifiers)

Start:
43,088,127 bp from pter      End:
43,117,304 bp from pter
Size:
29,178 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: A4GAT_HUMAN, Q9NPC4 (See protein sequence)
Recommended Name: Lactosylceramide 4-alpha-galactosyltransferase  
Size: 353 amino acids; 40499 Da
Secondary accessions: B2R7C4 Q9P1X5

Explore the universe of human proteins at neXtProt for A4GALT: NX_Q9NPC4

Explore proteomics data for A4GALT at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn121, Asn203
  • Selected DME Specific Peptides for A4GALT (Q9NPC4) (see all 9)
     CSVESAA  HEFMALCM  ESRACRGVT  LPVLSDASRIAL 


    See A4GALT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_059132.1  
    ENSEMBL proteins: 
     ENSP00000384794   ENSP00000249005   ENSP00000370678  

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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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    2 InterPro protein domains:
     IPR007577 GlycoTrfase_DXD_sugar-bd_CS
     IPR007652 A1-4-GlycosylTfrase_dom

    Graphical View of Domain Structure for InterPro Entry Q9NPC4

    ProtoNet protein and cluster: Q9NPC4

    1 Blocks protein domain: IPB007652 Alpha 1,4-glycosyltransferase conserved region

    UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
    Domain: The conserved DXD motif is involved in enzyme activity (By similarity)
    Similarity: Belongs to the glycosyltransferase 32 family


    Find genes that share domains with A4GALT           About GenesLikeMe


    (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, 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: A4GAT_HUMAN, Q9NPC4
    Function: Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of
    galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial
    verotoxins
    Catalytic activity: UDP-alpha-D-galactose + beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide = UDP +
    alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide

         Enzyme Number (IUBMB): EC 2.4.1.2281 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity IDA10747952
    GO:0050512lactosylceramide 4-alpha-galactosyltransferase activity IEA--
         
    Find genes that share ontologies with A4GALT           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for A4GALT:
     Decreased p24 protein expressi 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for A4galt):
     behavior/neurological  homeostasis/metabolism  immune system  mortality/aging 

    Find genes that share phenotypes with A4GALT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for A4GALT: A4galttm1Kfk A4galttm1.1Poru

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for A4GALT
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    hsa-mir-193b-3p (MIRT016300)

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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
    A4GAT_HUMAN, Q9NPC4: Golgi apparatus membrane; Single-pass type II membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol2
    extracellular2
    mitochondrion2
    plasma membrane2
    nucleus1
    peroxisome1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005795Golgi stack IEA--
    GO:0016020membrane IDA10748143
    GO:0030173integral component of Golgi membrane NAS10748143

    Find genes that share ontologies with A4GALT           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 A4GALT About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Glycosphingolipid biosynthesis - globo series
    Glycosphingolipid biosynthesis - globo series


    Find genes that share SuperPaths with A4GALT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for A4GALT):
        Glycosphingolipid biosynthesis - globo series
    Metabolic pathways

    UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for A4GALT
    Interactions:

        Search GeneGlobe Interaction Network for A4GALT

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

    Selected Interacting proteins for A4GALT (Q9NPC42 ENSP000002490054) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GALNT1ENSP000003234794STRING: ENSP00000323479
    HEXAENSP000002680974STRING: ENSP00000268097
    HEXBENSP000002614164STRING: ENSP00000261416
    B4GALT6ENSP000003064594STRING: ENSP00000306459
    GLB1ENSP000003069204STRING: ENSP00000306920
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation IEA--
    GO:0006688glycosphingolipid biosynthetic process NAS10748143
    GO:0007009plasma membrane organization IDA10747952

    Find genes that share ontologies with A4GALT           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for A4GALT (A4GAT)

    Selected HMDB Compounds for A4GALT (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    7 Novoseek inferred chemical compound relationships for A4GALT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactosylceramide 86.6 5 9988695 (1), 12232838 (1), 16100442 (1), 15633106 (1) (see all 5)
    shiga toxin 81.8 3 15633106 (1)
    verotoxins 78.7 3 8039905 (1)
    glucosylceramide 69.5 2 9988695 (1), 15633106 (1)
    ceramide 61.2 3 9988695 (1), 12232838 (1), 16100442 (1)
    glycosphingolipid 57 1 10854428 (1)
    polysaccharide 15.1 1 10430883 (1)



    Find genes that share compounds with A4GALT           About GenesLikeMe



    (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 A4GALT gene: 
    NM_017436.4  

    Unigene Cluster for A4GALT:

    Alpha 1,4-galactosyltransferase
    Hs.105956  [show with all ESTs]
    Unigene Representative Sequence: BC055286
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401850 ENST00000249005(uc003bdb.3 uc021wqo.1 uc021wqp.1 uc010gzd.3)
    ENST00000381278 ENST00000483026 ENST00000465765
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    Additional mRNA sequence: 

    AB037883.1 AJ245581.1 AK074388.1 AK130208.1 AK312927.1 BC017068.2 BC055286.1 

    13 DOTS entries:

    DT.442686  DT.100699121  DT.120628638  DT.100821222  DT.95272953  DT.95272956  DT.101959088  DT.120628635 
    DT.120628647  DT.92424195  DT.99988912  DT.100821221  DT.120628618 

    Selected AceView cDNA sequences (see all 105):

    BU956377 BU944049 BQ059688 BF939428 BF915976 CR604491 BI754786 BE019172 
    BC017068 AI401691 BE646115 AB037883 AI970069 BF914923 BQ061875 BU944582 
    NM_017436 AJ245581 CA308012 BF307234 BQ709200 CF132207 BU172949 BP352881 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for A4GALT    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d
    SP1:        -     -     -                           
    SP2:              -     -                           
    SP3:              -     -                           
    SP4:                    -                           
    SP5:                                                


    ECgene alternative splicing isoforms for A4GALT

    (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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    A4GALT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATGTACT
    A4GALT Expression
    About this image


    A4GALT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
     
     Lymph (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    A4GALT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    A4GALT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.105956

    UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
    Tissue specificity: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta

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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 A4GALT gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia A4galt1 , 5 alpha 1,4-galactosyltransferase1, 5 80.65(n)1
    78.45(a)1
      15 (39.40 cM)5
    2395591  NM_001004150.31  NP_001004150.11 
     832267265 
    chicken
    (Gallus gallus)
    Aves A4GALT6
    alpha 1,4-galactosyltransferase
    65(a)
    1 ↔ 1
    1(68489591-68490658)
    lizard
    (Anolis carolinensis)
    Reptilia A4GALT6
    alpha 1,4-galactosyltransferase
    60(a)
    1 ↔ 1
    5(87012982-87014061)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia a4galt1 alpha 1,4-galactosyltransferase 65.36(n)
    59.64(a)
      100495236  XM_002942064.2  XP_002942110.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG172233
    alpha4GT11
    alpha4GT11 31(a)3
    46.63(n)1
    33.84(a)1
      23C53
    335121  NM_134893.41  NP_608737.11 


    ENSEMBL Gene Tree for A4GALT (if available)
    TreeFam Gene Tree for A4GALT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for A4GALT gene
    A4GNT2  
    12 SIMAP similar genes for A4GALT using alignment to 26 protein entries:     A4GAT_HUMAN (see all proteins):
    CIR1    ZNF506    C8orf44    PSMD8    LOC100287164    SNTB2
    C8orf17    STARD10    VPS53    ZNF714    EMC10    A4GNT

    Find genes that share paralogs with A4GALT           About GenesLikeMe



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    A4GAT_HUMAN, Q9NPC4: Genetic variation in A4GALT is responsible for the P system blood group phenotypes [MIM:111400].
    Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2,
    P1(k), P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express
    any antigens. It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in
    their sera. These antibodies are clinically important because they can cause severe transfusion reactions and
    miscarriage


    Selected SNPs for A4GALT (see all 882)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743154541,2
    Cpathogenic127005951(-) AAGTGA/GTGTTC 2 * W stg10--------
    rs289405711,2,,4
    C,Fpathogenic127005982(-) GGGCCC/TGCAGC 2 P L mis1 ese30--------
    rs289405721,2,,4
    Cpathogenic127006174(-) GTTCGA/GCGGCA 2 D G mis1 ese30--------
    rs743154531,2
    Cpathogenic127006186(-) ACTCAA/TGTGGA 2 K M mis10--------
    rs81424451,2
    C,F,A,H--27004420(+) GTCTCG/ACCCTG 1 -- ds50019Minor allele frequency- A:0.22NS NA WA EA 460
    rs289153931,2
    C,F--27004489(-) ATCCCG/AGGAGG 1 -- ds50012Minor allele frequency- A:0.02NS 94
    rs81423751,2
    C,F--27004557(+) CTCAGC/TCCTGC 1 -- ds500110Minor allele frequency- T:0.37NS NA WA EA 462
    rs60029011,2
    C--27004629(+) TGTCAT/CGGGGG 1 -- ds50012Minor allele frequency- C:0.01NS 94
    rs60029021,2
    C,F--27004630(+) GTCATG/TGGGGG 1 -- ds50012Minor allele frequency- T:0.01NS 94
    rs1841021811,2
    --27004768(+) GTCCCC/GAGCCC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for A4GALT (43088127 - 43117304 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for A4GALT (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724289CNV Deletion23290073
    esv2724288CNV Deletion23290073
    esv2672336CNV Deletion23128226
    esv2661754CNV Deletion23128226
    nsv191539CNV Loss16902084
    dgv4984n71CNV Loss21882294
    nsv915189CNV Loss21882294
    nsv915187CNV Loss21882294
    dgv4985n71CNV Loss21882294
    nsv915186CNV Loss21882294

    Human Gene Mutation Database (HGMD): A4GALT
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing A4GALT
    DNA2.0 Custom Variant and Variant Library Synthesis for A4GALT

    (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: 607922   
    OMIM disorders: 111400  
    1 disease for A4GALT:    
    About MalaCards
    nor polyagglutination syndrome

    2 diseases from the University of Copenhagen DISEASES database for A4GALT:
    hemolytic-uremic syndrome     Fabry disease

    Find genes that share disorders with A4GALT           About GenesLikeMe

    1 Novoseek inferred disease relationship for A4GALT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 11745412 (1)

    Genetic Association Database (GAD): A4GALT
    Human Genome Epidemiology (HuGE) Navigator: A4GALT (2 documents)

    Export disorders for A4GALT 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 A4GALT gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with A4GALT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of the histo-blood group Pk UDP- galactose:Galbeta1-4Glcbeta1-Cer alpha1,4-galactosyltransferase. Molecular genetic basis of the p phenotype. (PubMed id 10747952)1, 2, 9 Steffensen R.... Clausen H. (J. Biol. Chem. 2000)
    2. Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype. (PubMed id 11896312)1, 2, 9 Koda Y.... Kimura H. (Transfusion 2002)
    3. Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals. (PubMed id 10854428)1, 3, 9 Keusch J.J....Baenziger J.U. (J. Biol. Chem. 2000)
    4. Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals. (PubMed id 10993874)1, 2, 9 Furukawa K.... Furukawa K. (J. Biol. Chem. 2000)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids. (PubMed id 10748143)1, 2 Kojima Y.... Furukawa K. (J. Biol. Chem. 2000)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    8. Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen. (PubMed id 16212661)1, 9 Hellberg A....Olsson M.L. (BMC Genet. 2005)
    9. Globotriaosylceramide (Gb3) content in HeLa cells is correlated to Shiga toxin-induced cytotoxicity and Gb3 synthase expression. (PubMed id 19470247)1, 9 Shin I.S....Kim B.W. (BMB Rep 2009)
    10. Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype. (PubMed id 18067504)1, 9 Hellberg A.... Olsson M.L. (Transfusion 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: 53947 HGNC: 18149 AceView: A4GALT Ensembl:ENSG00000128274 euGenes: HUgn53947
    ECgene: A4GALT Kegg: 53947 H-InvDB: A4GALT

    (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 A4GALT Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=A4GALT
    SeattleSNPshttp://pga.gs.washington.edu/data/a4galt/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_428

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for A4GALT gene:
    Search GeneIP for patents involving A4GALT

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



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