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GDP-mannose pyrophosphorylase B

Summary

Gene Symbol

GMPPB

Aliases

KIAA1851
mannose-1-phosphate guanyltransferase beta

Organism

Homo sapiens (human)

External Links

NCBI Gene

29925

HGNC

22932

KEGG Gene ID

hsa:29925

PubChem

29925

Alliance of Genome Resources

HGNC:22932

Annotation

Keyword

3D-structure
Alternative splicing
Congenital muscular dystrophy
Cytoplasm
Disease variant
Dystroglycanopathy
GTP-binding
Limb-girdle muscular dystrophy
Nucleotidyltransferase
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9Y5P6	GDP-mannose pyrophosphorylase B GTP-mannose-1-phosphate guanylyltransferase beta

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein glycosylation	IBA
GDP-mannose biosynthetic process	IBA IEA IMP	26310427

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

biosynthetic process [inference]

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

small molecule metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

macromolecule glycosylation [inference]

protein glycosylation

carbohydrate derivative metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

Displaying 1 entry
GO Term	Evidence Code	PMID
cytoplasm	IBA IDA	23768512

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

Displaying **all 3** entries
GO Term	Evidence Code	PMID
mannose-1-phosphate guanylyltransferase (GTP) activity	IBA
GTP binding	IEA
protein binding	IPI	16189514 25416956 31515488 32296183

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

nucleotidyltransferase activity [inference]

guanylyltransferase activity [inference]

mannose-1-phosphate guanylyltransferase (GTP) activity

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

GTP binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleoside triphosphate binding [inference]

GTP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000173540

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00966

Name

mannose-1-phosphate guanylyltransferase [EC:2.7.7.13]

References

11082198

Rhea

H⁺ + GTP + α-D-mannose 1-phosphate

diphosphate + GDP-α-D-mannose

Enzyme

2.7.7.13

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **113** in total

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DO ID	Disease Name	Source
DOID:0050214	Lambert-Eaton myasthenic syndrome	DisGeNET
DOID:0050557	congenital muscular dystrophy	DisGeNET DisGeNET
DOID:0050559	Fukuyama congenital muscular dystrophy	DisGeNET
DOID:0050560	Walker-Warburg syndrome	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	DisGeNET DisGeNET
DOID:0050700	cardiomyopathy	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060255	rippling muscle disease 2	DisGeNET
DOID:0060260	ptosis	DisGeNET

The Human Phenotype Ontology

Displaying entries **111 - 120** of **142** in total

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HPO ID	HPO Term
HP:0004637	Decreased cervical spine mobility
HP:0006380	Knee flexion contracture
HP:0006698	Dilatation of the ventricular cavity
HP:0006899	Fusion of the cerebellar hemispheres
HP:0006955	Olivopontocerebellar hypoplasia
HP:0007015	Poor gross motor coordination
HP:0007204	Diffuse white matter abnormalities
HP:0007256	Abnormal pyramidal sign
HP:0007260	Type II lissencephaly
HP:0007340	Lower limb muscle weakness

Displaying **all 8** entries
Disease ID	Disease Name
ORPHA:363623	autosomal recessive limb-girdle muscular dystrophy type 2T
ORPHA:370968	congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6
ORPHA:370959	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy with cerebellar involvement
OMIM:615351	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
OMIM:615350	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
ORPHA:353327	obsolete congenital myasthenic syndromes with glycosylation defect
ORPHA:588	muscle-eye-brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
OMIM:615352	autosomal recessive limb-girdle muscular dystrophy type 2T

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **51 - 60** of 77 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Takifugu rubripes	101080238		TAKRU20069
Chinchilla lanigera	102015564		CHILA22607
Aotus nancymaae	105727702		AOTNA35725
Phascolarctos cinereus	110217035		PHACI11820
Saimiri boliviensis boliviensis	101047504		SAIBB27149
Ictidomys tridecemlineatus	101969114		ICTTR14799
Jaculus jaculus	101596642		JACJA15670
Scophthalmus maximus	118308814		SCOMX26827
Rhinolophus ferrumequinum	117036807		RHIFE15945
Ficedula albicollis	101816657		FICAL12803

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Last updated: August 19, 2024