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

Summary

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 (GTP) activity. Involved in GDP-mannose biosynthetic process from glucose and GDP-mannose biosynthetic process from mannose. Located in mitochondrion. Is active in cytosol. 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; muscular dystrophy-dystroglycanopathy; and muscular dystrophy-dystroglycanopathy type B14. Orthologous to human GMPPB (GDP-mannose pyrophosphorylase B). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU022776 (e-PCR)
- UniSTS:208451

RH136162 (e-PCR)
- UniSTS:210157

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	PubMed
enables metal ion binding	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 GDP-mannose biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GDP-mannose biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in GDP-mannose biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in GDP-mannose biosynthetic process from glucose	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GDP-mannose biosynthetic process from mannose	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
part_of GDP-mannose pyrophosphorylase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: mannose-1-phosphate guanylyltransferase catalytic subunit beta

Names: GTP-mannose-1-phosphate guanylyltransferase beta; mannose-1-phosphate guanyltransferase beta

NP_001344611.1

EC 2.7.7.13

NP_001397558.1

EC 2.7.7.13

NP_808578.1

EC 2.7.7.13

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)

NM_001357682.2 → NP_001344611.1 mannose-1-phosphate guanylyltransferase catalytic subunit 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 ...
NM_001410629.1 → NP_001397558.1 mannose-1-phosphate guanylyltransferase catalytic subunit beta

Status: VALIDATED

Source sequence(s)

AC137678

UniProtKB/Swiss-Prot

Q8BTZ7
NM_177910.5 → NP_808578.1 mannose-1-phosphate guanylyltransferase catalytic subunit 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 ...