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GMPPA GDP-mannose pyrophosphorylase A [ Homo sapiens (human) ]

Gene ID: 29926, updated on 7-Jun-2020

Summary

Official Symbol
GMPPAprovided by HGNC
Official Full Name
GDP-mannose pyrophosphorylase Aprovided by HGNC
Primary source
HGNC:HGNC:22923
See related
Ensembl:ENSG00000144591 MIM:615495
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
AAMR
Summary
This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 13.3), prostate (RPKM 10.8) and 25 other tissues See more
Orthologs

Genomic context

See GMPPA in Genome Data Viewer
Location:
2q35
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219498891..219506989)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220363587..220371718)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene striated muscle enriched protein kinase Neighboring gene ASIC4 antisense RNA 1 Neighboring gene SPEG neighbor Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene acid sensing ion channel subunit family member 4

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
mannose-1-phosphate guanyltransferase alpha
Names
GMPP-alpha
GTP-mannose-1-phosphate guanylyltransferase alpha
epididymis secretory sperm binding protein
mannose-1-phosphate guanylyltransferase (GDP)
NP_001361223.1
NP_001361224.1
NP_037467.2
NP_995319.1

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_033833.1 RefSeqGene

    Range
    5027..13125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001374294.1NP_001361223.1  mannose-1-phosphate guanyltransferase alpha

    Status: REVIEWED

    Source sequence(s)
    AC053503
    Related
    ENSP00000363016.1, ENST00000373908.5
  2. NM_001374295.1NP_001361224.1  mannose-1-phosphate guanyltransferase alpha

    Status: REVIEWED

    Source sequence(s)
    AC053503
  3. NM_013335.4NP_037467.2  mannose-1-phosphate guanyltransferase alpha

    See identical proteins and their annotated locations for NP_037467.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses two different splice sites in the 5' UTR, compared to variant 2. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC053503, AK000999, CN309976
    Consensus CDS
    CCDS2441.1
    UniProtKB/Swiss-Prot
    Q96IJ6
    UniProtKB/TrEMBL
    A0A024R482
    Related
    ENSP00000315925.5, ENST00000313597.9
    Conserved Domains (2) summary
    cd06428
    Location:4261
    M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase
    cl00160
    Location:289355
    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 ...
  4. NM_205847.3NP_995319.1  mannose-1-phosphate guanyltransferase alpha

    See identical proteins and their annotated locations for NP_995319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC053503, AK022578, BC007456, BP284488, CN309976
    Consensus CDS
    CCDS2441.1
    UniProtKB/Swiss-Prot
    Q96IJ6
    UniProtKB/TrEMBL
    A0A024R482
    Related
    ENSP00000350949.3, ENST00000358215.8
    Conserved Domains (2) summary
    cd06428
    Location:4261
    M1P_guanylylT_A_like_N; N-terminal domain of M1P_guanylyl_A_ like proteins are likely to be a isoform of GDP-mannose pyrophosphorylase
    cl00160
    Location:289355
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    219498891..219506989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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