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

    Gene ID: 29925, updated on 1-Mar-2024

    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; AllianceGenome:HGNC:22932
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GMPPB in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49719916..49723951, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49749202..49753237, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49757349..49761384, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49723317-49724030 Neighboring gene acylaminoacyl-peptide hydrolase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49724031-49724744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49726261-49726820 Neighboring gene macrophage stimulating 1 Neighboring gene ring finger protein 123 Neighboring gene Sharpr-MPRA regulatory region 3541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49754537-49755037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49756083-49756890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19873 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49758476-49758653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14372 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 PHF5A pseudogene 3

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: AMIGO3

    Clone Names

    • KIAA1851

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mannose-1-phosphate guanylyltransferase (GTP) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in GDP-mannose biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in GDP-mannose biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GDP-mannose biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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_037466.3
    NP_068806.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033731.2 RefSeqGene

      Range
      5024..9059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013334.4NP_037466.3  mannose-1-phosphate guanyltransferase beta isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC099668
      Consensus CDS
      CCDS2802.1
      UniProtKB/TrEMBL
      A0A7I2YQI5
      Related
      ENSP00000309092.6, ENST00000308375.10
      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: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_021971.4NP_068806.2  mannose-1-phosphate guanyltransferase beta isoform 2

      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)
      AC099668
      Consensus CDS
      CCDS2803.1
      UniProtKB/Swiss-Prot
      A8K6N5, Q9H7U3, Q9Y5P6
      UniProtKB/TrEMBL
      A0A7I2YQI5
      Related
      ENSP00000311130.6, ENST00000308388.7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49719916..49723951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49749202..49753237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)