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GMPPB Gene

protein-coding   GIFtS: 67
GCID: GC03M049754

GDP-Mannose Pyrophosphorylase B

  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
GDP-Mannose Pyrophosphorylase B1 2 3     MDDGB142 5
GTP-Mannose-1-Phosphate Guanylyltransferase Beta2 3     MDDGC142 5
EC 2.7.7.133 8     Mannose-1-Phosphate Guanyltransferase Beta2
MDDGA142 5     KIAA18515

External Ids:    HGNC: 229321   Entrez Gene: 299252   Ensembl: ENSG000001735407   OMIM: 6153205   UniProtKB: Q9Y5P63   

Export aliases for GMPPB gene to outside databases

Previous GC identifers: GC03P046353 GC03P048643 GC03M049611 GC03M049717 GC03M049733


(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 GMPPB Gene:
This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of
mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides.
Alternatively spliced transcript variants encoding distinct isoforms have been described. (provided by RefSeq,
Jan 2009)

GeneCards Summary for GMPPB Gene:
GMPPB (GDP-mannose pyrophosphorylase B) is a protein-coding gene. Diseases associated with GMPPB include muscular dystrophy-dystroglycanopathy , type b, 14, and muscular dystrophy-dystroglycanopathy , type a, 14. GO annotations related to this gene include mannose-1-phosphate guanylyltransferase activity and GTP binding. An important paralog of this gene is GMPPA.

Gene Wiki entry for GMPPB 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:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the GMPPB gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   MIF-1   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049754:  view genomic region     (about GC identifiers)

Start:
49,754,277 bp from pter      End:
49,761,384 bp from pter
Size:
7,108 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GMPPB_HUMAN, Q9Y5P6 (See protein sequence)
Recommended Name: Mannose-1-phosphate guanyltransferase beta  
Size: 360 amino acids; 39834 Da
Subunit: Associates with GMPPA (By similarity)
Secondary accessions: A8K6N5 Q9H7U3
Alternative splicing: 2 isoforms:  Q9Y5P6-1   Q9Y5P6-2   

Explore the universe of human proteins at neXtProt for GMPPB: NX_Q9Y5P6

Explore proteomics data for GMPPB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GMPPB (Q9Y5P6) (see all 15)
     EPSKYGV  GNVLVDP  LHQVEAL  PTSIEKE 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_037466.2  NP_068806.1  

    ENSEMBL proteins: 
     ENSP00000418565   ENSP00000309092   ENSP00000311130  
    Reactome Protein details: Q9Y5P6

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    Cloud-Clone Corp. CLIAs for GMPPB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001451 Hexapep_transf
     IPR005835 NTP_transferase
     IPR018357 Hexapep_transf_CS

    Graphical View of Domain Structure for InterPro Entry Q9Y5P6

    ProtoNet protein and cluster: Q9Y5P6

    1 Blocks protein domain: IPB005835 Nucleotidyl transferase

    UniProtKB/Swiss-Prot: GMPPB_HUMAN, Q9Y5P6
    Similarity: Belongs to the transferase hexapeptide repeat family


    GMPPB 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: GMPPB_HUMAN, Q9Y5P6
    Catalytic activity: GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose

         Enzyme Number (IUBMB): EC 2.7.7.131 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004475mannose-1-phosphate guanylyltransferase activity IEA--
    GO:0005525GTP binding IEA--
    GO:0016779nucleotidyltransferase activity ----
         
    GMPPB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GMPPB:
     Decreased melanin production  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GMPPB
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    miRNA
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    miRTarBase miRNAs that target GMPPB:
    hsa-mir-148b-3p (MIRT019376), hsa-mir-328-3p (MIRT043742), hsa-mir-193b-3p (MIRT041226)

    Block miRNA regulation of human, mouse, rat GMPPB using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate GMPPB:
    hsa-miR-526b hsa-miR-944 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidGMPPB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GMPPB

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    Sino Biological Human cDNA Clone for GMPPB
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GMPPB


    (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
    GMPPB_HUMAN, Q9Y5P6: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    chloroplast2
    mitochondrion2
    extracellular1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--

    GMPPB 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 GMPPB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    Synthesis of GDP-mannose0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Synthesis of substrates in N-glycan biosythesis0.00
    2Metabolism
    Metabolic pathways0.38
    3Fructose and mannose metabolism
    Fructose and mannose metabolism
    4Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GMPPB
        Synthesis of GDP-mannose


    3 Kegg Pathways  (Kegg details for GMPPB):
        Fructose and mannose metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GMPPB_HUMAN, Q9Y5P6
    Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose
    1-phosphate (GTP route): step 1/1


    GMPPB for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for GMPPB

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

    Selected Interacting proteins for GMPPB (Q9Y5P62, 3 ENSP000003090924) via UniProtKB, MINT, STRING, and/or I2D (see all 347)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0009058biosynthetic process ----
    GO:0009298GDP-mannose biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--

    GMPPB 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 GMPPB

    5 HMDB Compounds for GMPPB    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Mannose 1-phosphate1-(dihydrogen phosphate)-D-Mannopyranose (see all 11)27251-84-9--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine diphosphate mannoseGDP mannose (see all 7)3123-67-9--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--



    (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 GMPPB gene (2 alternative transcripts): 
    NM_013334.3  NM_021971.2  

    Unigene Cluster for GMPPB:

    GDP-mannose pyrophosphorylase B
    Hs.567488  [show with all ESTs]
    Unigene Representative Sequence: AK097846
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480687 ENST00000308375(uc003cxk.1 uc003cxl.1) ENST00000308388
    ENST00000481959 ENST00000495627
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate GMPPB:
    hsa-miR-526b hsa-miR-944 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidGMPPB 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): GMPPB (NM_021971)
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    OriGene qPCR primer pairs and template standards for GMPPB
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GMPPB
      QuantiTect SYBR Green Assays in human, mouse, rat GMPPB
      QuantiFast Probe-based Assays in human, mouse, rat GMPPB

    Additional mRNA sequence: 

    AF135421.1 AK097846.1 AK291700.1 BC001141.1 BC008033.1 

    15 DOTS entries:

    DT.100878942  DT.91753150  DT.100878945  DT.100878940  DT.120904375  DT.95124891  DT.120904332  DT.120904154 
    DT.99972057  DT.95124902  DT.102835112  DT.453759  DT.100878933  DT.100878941  DT.120904714 

    Selected AceView cDNA sequences (see all 185):

    BM982029 BQ277904 AY237003 BF000459 BM693748 CR622850 BQ573880 CR601262 
    BM984234 BI518646 BQ276343 NM_198722 BQ673901 F09184 BC008033 CR618829 
    BC001141 NM_013334 BM982561 AI394017 BU856848 CR597958 NM_021971 AW450739 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GMPPB (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
    SP1:                    -     -                                         -                                                   
    SP2:                                                                    -                                                   
    SP3:                                                                    -                                                   
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for GMPPB

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


    GMPPB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    GMPPB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GMPPB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567488
        Custom PCR Arrays for GMPPB
    Primer
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    OriGene qPCR primer pairs and template standards for GMPPB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GMPPB

    (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 eukaryotes.

    Orthologs for GMPPB gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gmppb1 , 5 GDP-mannose pyrophosphorylase B1, 5 90.46(n)1
    97.78(a)1
      9 (59.07 cM)5
    3310261  NM_177910.31  NP_808578.11 
     1080492695 
    chicken
    (Gallus gallus)
    Aves GMPPB1 GDP-mannose pyrophosphorylase B 77.37(n)
    78.16(a)
      415924  XM_004944431.1  XP_004944488.1 
    lizard
    (Anolis carolinensis)
    Reptilia GMPPB6
    GDP-mannose pyrophosphorylase B
    85(a)
    1 ↔ 1
    2(147143428-147151212)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.57452 Xenopus laevis transcribed sequence with moderate similarity more 77.21(n)    BX848447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc79b102 wufc79b10 76.36(n)   325461  57044362 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG11291 , 3 mannose-1-phosphate
    guanylyltransferase3
    CG11291
    65(a)3
    66.11(n)1
    70.39(a)1
      405991  NM_141241.41  NP_649498.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C42C1.53
    tag-3351
    guanyltransferase3
    tag-3351
    58(a)3
    59.7(n)1
    64.07(a)1
      IV(12276608-12278406)3
    1834001  NM_069932.51  NP_502333.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PSA1(YDL055C)4
    PSA11
    GDP-mannose pyrophosphorylase (mannose-1-phosphate more4
    PSA11
    57.78(n)1
    58.33(a)1
      4(356759-355674)4
    8515041, 4  NP_010228.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYT11 CYT1 59.63(n)
    61.94(a)
      818562  NM_129535.3  NP_181507.1 
    rice
    (Oryza sativa)
    Liliopsida Os.439512 Oryza sativa (japonica cultivar-group) COG1208, GCD1, more 75.88(n)    AK121972.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GMPPB gene
    GMPPA2  
    1 SIMAP similar gene for GMPPB using alignment to 1 protein entry:     GMPPB_HUMAN:
    GMPPA

    GMPPB 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 GMPPB (see all 129)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701444
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)4--see VAR_0701442 P L mis40--------
    VAR_0701454
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)4--see VAR_0701452 R C mis40--------
    VAR_0701484
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14)4--see VAR_0701482 D N mis40--------
    VAR_0701424
    Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)4--see VAR_0701422 P S mis40--------
    VAR_0701464
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)4--see VAR_0701462 R Q mis40--------
    VAR_0701474
    Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)4--see VAR_0701472 V I mis40--------
    VAR_0701434
    Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)4--see VAR_0701432 D H mis40--------
    rs1396689581,2
    C--49818456(+) GCACCG/ATGCAC 4 /T /M mis11Minor allele frequency- A:0.00NA 4542
    rs2021602081,2
    C--49818465(+) ACCGCC/TGGATA 4 Q R mis11Minor allele frequency- T:0.00EU 1069
    rs2011232311,2
    --49818539(+) TGGCCA/GATGCG 4 I syn10--------

    HapMap Linkage Disequilibrium report for GMPPB (49754277 - 49761384 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GMPPB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508217CNV Loss20534489

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

    (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: 615320   
    OMIM disorders: 615350  615352  615351  
    UniProtKB/Swiss-Prot: GMPPB_HUMAN, Q9Y5P6
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]:
    An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies,
    eye malformations, and profound mental retardation. The disorder includes a severe form designated as
    Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include
    increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural
    hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A
    congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation.
    Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar
    hypoplasia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form
    of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients
    may have additional features, such as mild intellectual disability or seizures. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 14 diseases for GMPPB:    About MalaCards
    muscular dystrophy-dystroglycanopathy , type b, 14    muscular dystrophy-dystroglycanopathy , type a, 14    muscular dystrophy-dystroglycanopathy , type c, 14    granulomatous amebic encephalitis
    keratitis    limb-girdle muscular dystrophy    encephalitis    crohn's disease
    muscular dystrophy    ulcerative colitis    tuberculosis    malaria
    cerebritis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for GMPPB:
    Granulomatous amebic encephalitis

    GMPPB for disorders           About GeneDecksing

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

    Export disorders for GMPPB 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 GMPPB gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with GMPPB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of I+-dystroglycan. (PubMed id 23768512)1, 2 Carss K.J....Muntoni F. (Am. J. Hum. Genet. 2013)
    2. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1, 4 Morgan A.R....Ferguson L.R. (Hum. Immunol. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (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: 29925 HGNC: 22932 AceView: GMPPBandAMIGO3 Ensembl:ENSG00000173540 euGenes: HUgn29925
    ECgene: GMPPB Kegg: 29925 H-InvDB: GMPPB

    (According to HUGE)
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    HUGE: KIAA1851

    (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 GMPPB Pharmacogenomics, SNPs, Pathways

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

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



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