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Gmppb GDP-mannose pyrophosphorylase B [ Mus musculus (house mouse) ]

Gene ID: 331026, updated on 11-Apr-2024

Summary

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Official Symbol
Gmppbprovided by MGI
Official Full Name
GDP-mannose pyrophosphorylase Bprovided by MGI
Primary source
MGI:MGI:2660880
See related
Ensembl:ENSMUSG00000070284 AllianceGenome:MGI:2660880
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
E430010H19
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. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. 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
Ubiquitous expression in large intestine adult (RPKM 34.0), placenta adult (RPKM 25.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 F1; 9 59.07 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (107926490..107929119)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (108049239..108051923)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930535L15 gene Neighboring gene cadherin-related family member 4 Neighboring gene STARR-positive B cell enhancer ABC_E61 Neighboring gene inositol hexaphosphate kinase 1 Neighboring gene STARR-positive B cell enhancer ABC_E2305 Neighboring gene STARR-positive B cell enhancer ABC_E6803 Neighboring gene STARR-positive B cell enhancer ABC_E3859 Neighboring gene ring finger protein 123 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene microRNA 7088 Neighboring gene macrophage stimulating 1 (hepatocyte growth factor-like)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis. Sansom SN, et al. PLoS Genet, 2009 Jun. PMID 19521500, Free PMC Article
  2. LCP1 preferentially binds clasped αMβ2 integrin and attenuates leukocyte adhesion under flow. Tseng HY, et al. J Cell Sci, 2018 Nov 21. PMID 30333137, Free PMC Article
  3. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
  4. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

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
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in GDP-mannose biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
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 mitochondrion HDA PubMed 

General protein information

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Preferred Names
mannose-1-phosphate guanyltransferase beta
Names
GTP-mannose-1-phosphate guanylyltransferase beta
NP_001344611.1
NP_001397558.1
NP_808578.1

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_001357682.2 → NP_001344611.1  mannose-1-phosphate guanyltransferase beta

    Status: VALIDATED

    Source sequence(s)
    AC137678
    Consensus CDS
    CCDS23515.1
    UniProtKB/Swiss-Prot
    Q8BTZ7
    Related
    ENSMUSP00000036898.8, ENSMUST00000047947.9
    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 ...

  2. NM_001410629.1 → NP_001397558.1  mannose-1-phosphate guanyltransferase beta

    Status: VALIDATED

    Source sequence(s)
    AC137678
    UniProtKB/Swiss-Prot
    Q8BTZ7

  3. NM_177910.5 → NP_808578.1  mannose-1-phosphate guanyltransferase beta

    See identical proteins and their annotated locations for NP_808578.1

    Status: VALIDATED

    Source sequence(s)
    AC137678
    Consensus CDS
    CCDS23515.1
    UniProtKB/Swiss-Prot
    Q8BTZ7
    Related
    ENSMUSP00000107914.3, ENSMUST00000112295.9
    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 ...

RNA

  1. NR_177100.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC137678

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    107926490..107929119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BTZ7.1 GenPept UniProtKB/Swiss-Prot:Q8BTZ7

Gene LinkOut

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