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
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
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
protein glycosylation
GDP-mannose biosynthetic process
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
cytoplasm
GO Hierarchy
Human Protein Atlas
ENSG00000173540

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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

KEGG BRITE Database
Orthology
K00966
Name
mannose-1-phosphate guanylyltransferase [EC:2.7.7.13]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 113 in total
DO ID Disease Name Source
DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K
DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N
DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I
DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H
DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2
DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1
DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3
The Human Phenotype Ontology
Displaying entries 21 - 30 of 142 in total
HPO ID HPO Term
HP:0000568 Microphthalmia
HP:0000580 Pigmentary retinopathy
HP:0000589 Coloboma
HP:0000609 Optic nerve hypoplasia
HP:0000618 Blindness
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000707 Abnormality of the nervous system
HP:0001249 Intellectual disability
HP:0001250 Seizure
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

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