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

Gene ID: 29925, updated on 20-Dec-2019

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
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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49719916..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 acylaminoacyl-peptide hydrolase 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 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

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_068806.2

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_033731.2 RefSeqGene

    Range
    5024..9059
    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, ENST00000308375.10
    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_021971.4NP_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
    Related
    ENSP00000311130.6, ENST00000308388.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    49719916..49723974 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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