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GALNT5 Gene

protein-coding   GIFtS: 58
GCID: GC02P158079

Polypeptide N-Acetylgalactosaminyltransferase 5

(Previous name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase...)
  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
Polypeptide N-Acetylgalactosaminyltransferase 51 2     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 52 3
Polypeptide GalNAc Transferase 51 2 3     EC 2.4.1.413 8
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 5 (GalNAc-T5)1 2
     GALNACT52 5
Protein-UDP Acetylgalactosaminyltransferase 52 3     GALNAC-T52
Pp-GaNTase 52 3     GalNAc-T53

External Ids:    HGNC: 41271   Entrez Gene: 112272   Ensembl: ENSG000001365427   OMIM: 6151295   UniProtKB: Q7Z7M93   

Export aliases for GALNT5 gene to outside databases

Previous GC identifers: GC02P156046 GC02P156644 GC02P158316 GC02P157939 GC02P157822 GC02P149999


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GALNT5 Gene:
GALNT5 (polypeptide N-acetylgalactosaminyltransferase 5) is a protein-coding gene. Diseases associated with GALNT5 include hereditary multiple exostoses, and exostosis. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT12.

UniProtKB/Swiss-Prot: GALT5_HUMAN, Q7Z7M9
Function: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an
N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward
EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity)




(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_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALNT5 gene promoter:
         Max1   HOXA9   HOXA9B   FOXO3   FOXO3b   Meis-1b   MEF-2A   FOXO3a   aMEF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT5 promoter sequence
   Search Chromatin IP Primers for GALNT5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT5


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

Entrez Gene cytogenetic band: 2q24.1   Ensembl cytogenetic band:  2q24.1   HGNC cytogenetic band: 2q24.1

GALNT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P158079:  view genomic region     (about GC identifiers)

Start:
158,114,110 bp from pter      End:
158,170,723 bp from pter
Size:
56,614 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GALT5_HUMAN, Q7Z7M9 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 5  
Size: 940 amino acids; 106266 Da
Cofactor: Manganese (By similarity)
Subunit: Interacts with EXT2. Does not interact with EXT1, EXTL1 or EXTL3
Secondary accessions: A5PKZ1 Q9UGK7 Q9UHL6

Explore the universe of human proteins at neXtProt for GALNT5: NX_Q7Z7M9

Explore proteomics data for GALNT5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser69, Ser70, Thr94, Thr108, Thr134, Thr138, Thr149, Ser154, Ser155, Thr159,
                                 Thr163, Thr164, Ser192, Ser200, Ser202, Ser204, Ser205, Thr207, Ser208, Asn217 (see all 42)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALNT5 (Q7Z7M9) (see all 9)
     GLIRARL  LGTYDPG  PCSRVGH  GWLEPLL 


    See GALNT5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055383.1  
    ENSEMBL proteins: 
     ENSP00000259056  
    Reactome Protein details: Q7Z7M9

    GALNT5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for GALNT5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT2: Glycosyltransferase family 2 domain containing

    2 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q7Z7M9

    ProtoNet protein and cluster: Q7Z7M9

    2 Blocks protein domains:
    IPB000772 Ricin B lectin domain
    IPB001173 Glycosyl transferase


    UniProtKB/Swiss-Prot: GALT5_HUMAN, Q7Z7M9
    Domain: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also
    called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal
    domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal
    binding (By similarity)
    Domain: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By
    similarity)
    Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
    Similarity: Contains 1 ricin B-type lectin domain


    GALNT5 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: GALT5_HUMAN, Q7Z7M9
    Function: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an
    N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward
    EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity)
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Enzyme Number (IUBMB): EC 2.4.1.411 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IDA10545594
    GO:0046872metal ion binding IEA--
         
    GALNT5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GALNT5:
     Cell division defect  Increased G1 DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Galnt5):
     normal 

    GALNT5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Galnt5tm1Tabk for GALNT5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALNT5
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GALNT5

    miRNA
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    miRTarBase miRNAs that target GALNT5:
    hsa-mir-335-5p (MIRT016895)

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    2 qRT-PCR Assays for microRNAs that regulate GALNT5:
    hsa-miR-27a hsa-miR-27b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GALNT5
    Predesigned siRNA for gene silencing in human, mouse, rat GALNT5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GALNT5 (NM_014568)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALNT5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNT5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT5


    (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
    GALT5_HUMAN, Q7Z7M9: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005575cellular_component ND--
    GO:0016021integral component of membrane IEA--

    GALNT5 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 GALNT5 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 GALNT5
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for GALNT5):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT5_HUMAN, Q7Z7M9
    Pathway: Protein modification; protein glycosylation


    GALNT5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GALNT5: 

              Glycosylation in human mouse rat
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GALNT5

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

    Selected Interacting proteins for GALNT5 (Q7Z7M93 ENSP000002590564) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXT2Q930633, ENSP000003426564I2D: score=1 STRING: ENSP00000342656
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    GALNT11ENSP000003158354STRING: ENSP00000315835
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006024glycosaminoglycan biosynthetic process TAS10545594
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    GALNT5 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 GALNT5 (GALT5)

    5 HMDB Compounds for GALNT5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--



    (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,
    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 GALNT5 gene: 
    NM_014568.1  

    Unigene Cluster for GALNT5:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)
    Hs.269027  [show with all ESTs]
    Unigene Representative Sequence: BC142703
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259056(uc002tzg.3 uc010zci.2) ENST00000463418 ENST00000461704

    miRNA
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    hsa-miR-27a hsa-miR-27b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat GALNT5

    Additional mRNA sequence: 

    AF154107.1 AJ245539.1 AJ505956.1 AK292154.1 AY277591.1 BC142676.1 BC142703.1 BC144211.1 

    7 DOTS entries:

    DT.108869  DT.105956  DT.120956420  DT.208653  DT.91790977  DT.91986228  DT.99977002 

    Selected AceView cDNA sequences (see all 80):

    W92702 BM772895 AU121513 BQ001541 BM756024 BX092707 NM_014568 BM772900 
    BX487858 BQ009578 T35625 AY277591 BM738342 CA445475 BM828574 AJ245539 
    BX487859 CB159930 AI025654 AI017189 AA704077 BM827362 AK022198 AI075794 

    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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    GALNT5 expression in normal human tissues (normalized intensities)      GALNT5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACCACCT
    GALNT5 Expression
    About this image


    GALNT5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Fibroblasts
             Detroit 551
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    GALNT5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNT5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.269027
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GALNT5: 
              Glycosylation in human mouse rat
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALNT5
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    QuantiFast Probe-based Assays in human, mouse, rat GALNT5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT5

    (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 GALNT5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt51 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 81.29(n)1
    75.16(a)1
      2 (32.93 cM)5
    2413911  NM_172855.31  NP_766443.21 
     579978845 
    chicken
    (Gallus gallus)
    Aves GALNT51 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 58.83(n)
    56.62(a)
      424324  XM_422169.4  XP_422169.4 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT56
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    51(a)
    1 ↔ 1
    GL343254.1(473391-530258)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG21033 polypeptide
    N-acetylgalactosaminyltransferase
    38(a)
    (best of 5)
      62F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y47D3A.233   -- 47(a)
    (best of 4)
      III(11351401-11357765)   --


    ENSEMBL Gene Tree for GALNT5 (if available)
    TreeFam Gene Tree for GALNT5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALNT5 gene
    GALNT122  GALNT12  GALNTL62  GALNT32  GALNT22  GALNT102  GALNT132  GALNT62  
    POC1B-GALNT42  GALNT152  GALNT72  GALNT142  GALNTL52  GALNT42  GALNT162  GALNT112  
    14 SIMAP similar genes for GALNT5 using alignment to 3 protein entries:     GALT5_HUMAN (see all proteins):
    GALNT13    GALNT1    GALNT6    GALNT10    GALNT19    GALNT4
    GALNT8    WBSCR17    GALNT2    GALNT3    GALNT11    GALNT15
    GALNTL6    GALNT7

    GALNT5 for paralogs           About GeneDecksing



    (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 GALNT5 (see all 1256)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359914
    A breast cancer sample4--see VAR_0359912 E D mis40--------
    VAR_0359924
    A breast cancer sample4--see VAR_0359922 L F mis40--------
    rs1812364251,2
    --158112342(+) GGGAAA/GGAATG 1 -- us2k10--------
    rs1156392941,2
    F--158112429(+) TGAGTT/CGCAGT 1 -- us2k11Minor allele frequency- C:0.02NA 120
    rs750137741,2
    C,F--158112478(+) GAAACC/TTCAGT 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs1161556001,2
    F--158112511(+) AACCAG/AGAAAG 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1849424411,2
    C--158112809(+) AGGGCA/TTCTCC 1 -- us2k10--------
    rs21975851,2
    C,F,A--158112900(-) cccagA/Ggaacc 1 -- us2k14Minor allele frequency- G:0.27WA CSA NA 242
    rs21975841,2
    H--158112947(-) TATGAG/AACATt 1 -- us2k1 tfbs34Minor allele frequency- A:0.00NS EA 416
    rs1898108571,2
    --158112955(+) ATAGGC/TAATGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GALNT5 (158114110 - 158170723 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GALNT5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661479CNV Deletion23128226
    nsv875328CNV Loss21882294
    nsv834432CNV Gain17160897

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615129    OMIM disorders: --

    4 diseases for GALNT5:    About MalaCards
    hereditary multiple exostoses    exostosis    breast and colorectal cancer    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for GALNT5:
    Exostosis

    GALNT5 for disorders           About GeneDecksing


    Export disorders for GALNT5 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 GALNT5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with GALNT5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. (PubMed id 10545594)1, 2, 3 Simmons A.D....Lovett M. (Hum. Mol. Genet. 1999)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    3. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    4. The proteomic reactor facilitates the analysis of affinity-purified proteins by mass spectrometry: application for identifying ubiquitinated proteins in human cells. (PubMed id 17203973)1 Vasilescu J.... Figeys D. (J. Proteome Res. 2007)
    5. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 11227 HGNC: 4127 AceView: GALNT5 Ensembl:ENSG00000136542 euGenes: HUgn11227
    ECgene: GALNT5 Kegg: 11227 H-InvDB: GALNT5

    (According to HUGE)
    About This Section

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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 GALNT5 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT5
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_487

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALNT5 gene:
    Search GeneIP for patents involving GALNT5

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



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