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    GMPPB GDP-mannose pyrophosphorylase B [ Homo sapiens (human) ]

    Gene ID: 29925, updated on 7-Oct-2018

    Summary

    Official Symbol
    GMPPBprovided by HGNC
    Official Full Name
    GDP-mannose pyrophosphorylase Bprovided by HGNC
    Primary source
    HGNC:HGNC:22932
    See related
    Ensembl:ENSG00000173540 MIM:615320; Vega:OTTHUMG00000158151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LGMDR19; MDDGA14; MDDGB14; MDDGC14
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.4), prostate (RPKM 14.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See GMPPB in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (49721476..49723974, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49758909..49761407, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene macrophage stimulating 1 Neighboring gene ring finger protein 123 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene inositol hexakisphosphate kinase 1 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 14 Neighboring gene PHD finger protein 5E pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: AMIGO3

    Homology

    Clone Names

    • KIAA1851

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    mannose-1-phosphate guanylyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    GDP-mannose biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    GDP-mannose biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mannose-1-phosphate guanyltransferase beta
    Names
    GTP-mannose-1-phosphate guanylyltransferase beta
    NP_037466.2
    NP_068806.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033731.1 RefSeqGene

      Range
      5001..7499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013334.3NP_037466.2  mannose-1-phosphate guanyltransferase beta isoform 1

      See identical proteins and their annotated locations for NP_037466.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK024319, AK291700, DA411701
      Consensus CDS
      CCDS2802.1
      UniProtKB/Swiss-Prot
      Q9Y5P6
      Related
      ENSP00000309092.6, OTTHUMP00000212650, ENST00000308375.10, OTTHUMT00000350292
      Conserved Domains (3) summary
      cd06425
      Location:1233
      M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins
      COG1208
      Location:1379
      GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]
      cl00160
      Location:255361
      LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
    2. NM_021971.2NP_068806.1  mannose-1-phosphate guanyltransferase beta isoform 2

      See identical proteins and their annotated locations for NP_068806.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a portion of an exon in the 3' coding region compared to variant 1. The encoded isoform (2) lacks an in-frame internal segment and is shorter than isoform 1.
      Source sequence(s)
      AK291700, DA411701
      Consensus CDS
      CCDS2803.1
      UniProtKB/Swiss-Prot
      Q9Y5P6
      Related
      ENSP00000311130.6, OTTHUMP00000212651, ENST00000308388.6, OTTHUMT00000350293
      Conserved Domains (2) summary
      cd06425
      Location:1233
      M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins
      cl00160
      Location:255334
      LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      49721476..49723974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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