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Gmppb GDP-mannose pyrophosphorylase B [ Rattus norvegicus (Norway rat) ]

Gene ID: 363145, updated on 11-Apr-2024

Summary

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Official Symbol
Gmppbprovided by RGD
Official Full Name
GDP-mannose pyrophosphorylase Bprovided by RGD
Primary source
RGD:1560458
See related
AllianceGenome:RGD:1560458
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
RGD1560458
Summary
Predicted to enable mannose-1-phosphate guanylyltransferase activity. Predicted to be involved in GDP-mannose biosynthetic process; cell wall mannoprotein biosynthetic process; and protein glycosylation. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2T; congenital muscular dystrophy-dystroglycanopathy A14; and muscular dystrophy-dystroglycanopathy. Orthologous to human GMPPB (GDP-mannose pyrophosphorylase B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Spleen (RPKM 81.0), Liver (RPKM 72.1) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Gmppb in Genome Data Viewer
Location:
8q32
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (117616029..117622866)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (108737429..108740437)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (116826251..116856159)

Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134480233 Neighboring gene cadherin-related family member 4 Neighboring gene inositol hexakisphosphate kinase 1 Neighboring gene ring finger protein 123 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene macrophage stimulating 1 Neighboring gene acylaminoacyl-peptide hydrolase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Jensen BS, et al. Hum Mutat, 2015 Dec. PMID 26310427, Free PMC Article
  2. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Carss KJ, et al. Am J Hum Genet, 2013 Jul 11. PMID 23768512, Free PMC Article
  3. Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase. Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins. Ning B, et al. Eur J Biochem, 2000 Dec. PMID 11082198
  4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. Prunotto M, et al. J Proteomics, 2013 Apr 26. PMID 23376485

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

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 mannose-1-phosphate guanylyltransferase (GTP) activity ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
mannose-1-phosphate guanyltransferase beta
NP_001102251.1
XP_006243873.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001108781.2 → NP_001102251.1  mannose-1-phosphate guanyltransferase beta

    See identical proteins and their annotated locations for NP_001102251.1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000008
    UniProtKB/TrEMBL
    A6I329, D4A746
    Conserved Domains (2) summary
    cd06425
    Location:1 → 233
    M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins
    cl00160
    Location:255 → 334
    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_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086026.1 Reference GRCr8

    Range
    117616029..117622866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006243811.5 → XP_006243873.1  mannose-1-phosphate guanyltransferase beta isoform X1

    Conserved Domains (3) summary
    cd06425
    Location:34 → 266
    M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins
    COG1208
    Location:34 → 385
    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:288 → 367
    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 ...
Nucleotide Protein Strain
Heading Accession and Version

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