Gmppa GDP-mannose pyrophosphorylase A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gmppaprovided by MGI
Official Full Name: GDP-mannose pyrophosphorylase Aprovided by MGI
Primary source: MGI:MGI:1916330
See related: Ensembl:ENSMUSG00000033021 AllianceGenome:MGI:1916330
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: 1810012N01Rik
Summary: Predicted to enable enzyme regulator activity and molecular sensor activity. Involved in several processes, including negative regulation of nucleobase-containing compound metabolic process; negative regulation of phosphate metabolic process; and negative regulation of small molecule metabolic process. Acts upstream of or within several processes, including GDP-mannose biosynthetic process; motor behavior; and protein glycosylation. Predicted to be part of GDP-mannose pyrophosphorylase complex. Predicted to be active in cytosol. Is expressed in several structures, including adrenal gland; alimentary system; central nervous system; eye; and gonad. Used to study alacrima, achalasia, and impaired intellectual development syndrome. Human ortholog(s) of this gene implicated in alacrima, achalasia, and impaired intellectual development syndrome. Orthologous to human GMPPA (GDP-mannose pyrophosphorylase A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 59.3), large intestine adult (RPKM 50.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C4; 1 39.04 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (75412555..75419823)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (75435911..75443179)

Chromosome 1 - NC_000067.7 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 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?

GMPPA defects cause a neuromuscular disorder with alpha-dystroglycan hyperglycosylation.
Title: GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme regulator activity	ISO Inferred from Sequence Orthology more info	PubMed
enables molecular sensor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables molecular_function	ND No biological Data available more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within GDP-mannose biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within GDP-mannose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cognition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycoprotein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of nucleobase-containing compound metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of small molecule metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within telencephalon development	IMP Inferred from Mutant Phenotype more info	PubMed

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
is_active_in cytosol	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: mannose-1-phosphate guanylyltransferase regulatory subunit alpha; mannose-1-phosphate guanyltransferase alpha

Names: GTP-mannose-1-phosphate guanylyltransferase alpha

NP_001344098.1

EC 2.7.7.13

NP_001344099.1

EC 2.7.7.13

NP_001344100.1

EC 2.7.7.13

NP_598469.1

EC 2.7.7.13

XP_006496594.1

EC 2.7.7.13

XP_006496595.1

EC 2.7.7.13

XP_006496598.1

EC 2.7.7.13

XP_006496601.1

EC 2.7.7.13

XP_011237010.1

EC 2.7.7.13

XP_030098600.1

EC 2.7.7.13

XP_030098602.1

EC 2.7.7.13

XP_030098613.1

EC 2.7.7.13

XP_030098616.1

EC 2.7.7.13

XP_036009310.1

EC 2.7.7.13

XP_036009312.1

EC 2.7.7.13

XP_036009313.1

EC 2.7.7.13

XP_036009316.1

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_001357169.2 → NP_001344098.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

Consensus CDS

CCDS15072.1

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4

UniProtKB/TrEMBL

Q3UNC0

Related

ENSMUSP00000109214.2, ENSMUST00000113584.8

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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_001357170.2 → NP_001344099.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

Consensus CDS

CCDS15072.1

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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_001357171.2 → NP_001344100.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 2

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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_001432705.1 → NP_001419634.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432706.1 → NP_001419635.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432708.1 → NP_001419637.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432709.1 → NP_001419638.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432710.1 → NP_001419639.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432711.1 → NP_001419640.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432713.1 → NP_001419642.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432715.1 → NP_001419644.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC114651

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4
NM_001432716.1 → NP_001419645.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 3

Status: VALIDATED

Source sequence(s)

AC114651
NM_001432718.1 → NP_001419647.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 3

Status: VALIDATED

Source sequence(s)

AC114651
NM_133708.5 → NP_598469.1 mannose-1-phosphate guanylyltransferase regulatory subunit alpha isoform 1

See identical proteins and their annotated locations for NP_598469.1

Status: VALIDATED

Source sequence(s)

AC114651

Consensus CDS

CCDS15072.1

UniProtKB/Swiss-Prot

Q3UCM2, Q922H4

UniProtKB/TrEMBL

Q3UNC0

Related

ENSMUSP00000035564.8, ENSMUST00000037796.14

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

75412555..75419823

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006496532.2 → XP_006496595.1 mannose-1-phosphate guanyltransferase alpha isoform X1

See identical proteins and their annotated locations for XP_006496595.1

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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 ...
XM_030242756.1 → XP_030098616.1 mannose-1-phosphate guanyltransferase alpha isoform X2

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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 ...
XM_030242740.1 → XP_030098600.1 mannose-1-phosphate guanyltransferase alpha isoform X1

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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 ...
XM_036153419.1 → XP_036009312.1 mannose-1-phosphate guanyltransferase alpha isoform X2

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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 ...
XM_011238708.1 → XP_011237010.1 mannose-1-phosphate guanyltransferase alpha isoform X1

See identical proteins and their annotated locations for XP_011237010.1

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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 ...
XM_006496531.1 → XP_006496594.1 mannose-1-phosphate guanyltransferase alpha isoform X1

See identical proteins and their annotated locations for XP_006496594.1

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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 ...
XM_006496538.1 → XP_006496601.1 mannose-1-phosphate guanyltransferase alpha isoform X2

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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 ...
XM_030242753.1 → XP_030098613.1 mannose-1-phosphate guanyltransferase alpha isoform X2

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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 ...
XM_030242742.2 → XP_030098602.1 mannose-1-phosphate guanyltransferase alpha isoform X1

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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 ...
XM_036153420.1 → XP_036009313.1 mannose-1-phosphate guanyltransferase alpha isoform X2

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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 ...
XM_036153417.1 → XP_036009310.1 mannose-1-phosphate guanyltransferase alpha isoform X1

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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 ...
XM_036153423.1 → XP_036009316.1 mannose-1-phosphate guanyltransferase alpha isoform X2

Conserved Domains (2) summary

cd06428
Location:4 → 261

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:289 → 355

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 ...
XM_006496535.3 → XP_006496598.1 mannose-1-phosphate guanyltransferase alpha isoform X1

See identical proteins and their annotated locations for XP_006496598.1

UniProtKB/TrEMBL

Q3UNC0

Conserved Domains (2) summary

cd06428
Location:4 → 266

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:294 → 360

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 ...