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Aliases for GMPPB Gene

Aliases for GMPPB Gene

  • GDP-Mannose Pyrophosphorylase B 2 3 4
  • GTP-Mannose-1-Phosphate Guanylyltransferase Beta 3 4
  • EC 2.7.7.13 4 64
  • MDDGA14 3 6
  • MDDGB14 3 6
  • MDDGC14 3 6
  • Mannose-1-Phosphate Guanyltransferase Beta 3
  • KIAA1851 6

External Ids for GMPPB Gene

Summaries for GMPPB Gene

Entrez Gene Summary for GMPPB Gene

  • This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]

GeneCards Summary for GMPPB Gene

GMPPB (GDP-Mannose Pyrophosphorylase B) is a Protein Coding gene. Diseases associated with GMPPB include granulomatous amebic encephalitis and muscular dystrophy-dystroglycanopathy , type b, 14. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include GTP binding and mannose-1-phosphate guanylyltransferase activity. An important paralog of this gene is GMPPA.

Gene Wiki entry for GMPPB Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GMPPB Gene

Genomics for GMPPB Gene

Genomic Location for GMPPB Gene

Start:
49,716,844 bp from pter
End:
49,723,974 bp from pter
Size:
7,131 bases
Orientation:
Minus strand

Genomic View for GMPPB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GMPPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GMPPB Gene

Regulatory Elements for GMPPB Gene

Proteins for GMPPB Gene

  • Protein details for GMPPB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5P6-GMPPB_HUMAN
    Recommended name:
    Mannose-1-phosphate guanyltransferase beta
    Protein Accession:
    Q9Y5P6
    Secondary Accessions:
    • A8K6N5
    • Q9H7U3

    Protein attributes for GMPPB Gene

    Size:
    360 amino acids
    Molecular mass:
    39834 Da
    Quaternary structure:
    • Associates with GMPPA.

    Alternative splice isoforms for GMPPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GMPPB Gene

Proteomics data for GMPPB Gene at MOPED

Post-translational modifications for GMPPB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GMPPB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GMPPB Gene

UniProtKB/Swiss-Prot:

GMPPB_HUMAN
Family:
  • Belongs to the transferase hexapeptide repeat family.:
    • Q9Y5P6
genes like me logo Genes that share domains with GMPPB: view

No data available for Gene Families for GMPPB Gene

Function for GMPPB Gene

Molecular function for GMPPB Gene

UniProtKB/Swiss-Prot CatalyticActivity: GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose

Enzyme Numbers (IUBMB) for GMPPB Gene

Gene Ontology (GO) - Molecular Function for GMPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004475 mannose-1-phosphate guanylyltransferase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
GO:0016779 nucleotidyltransferase activity --
genes like me logo Genes that share ontologies with GMPPB: view

Phenotypes for GMPPB Gene

GenomeRNAi human phenotypes for GMPPB:
genes like me logo Genes that share phenotypes with GMPPB: view

miRNA for GMPPB Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for GMPPB Gene

Localization for GMPPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GMPPB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GMPPB Gene COMPARTMENTS Subcellular localization image for GMPPB gene
Compartment Confidence
cytosol 3
chloroplast 2
mitochondrion 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GMPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23768512
GO:0005739 mitochondrion IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GMPPB: view

Pathways for GMPPB Gene

genes like me logo Genes that share pathways with GMPPB: view

UniProtKB/Swiss-Prot Q9Y5P6-GMPPB_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1

Gene Ontology (GO) - Biological Process for GMPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0009058 biosynthetic process --
GO:0009298 GDP-mannose biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with GMPPB: view

Compounds for GMPPB Gene

(5) HMDB Compounds for GMPPB Gene

Compound Synonyms Cas Number PubMed IDs
D-Mannose 1-phosphate
  • 1-(dihydrogen phosphate)-D-Mannopyranose
27251-84-9
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine diphosphate mannose
  • GDP mannose
3123-67-9
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphate
  • NFB Orthophosphate
14265-44-2
genes like me logo Genes that share compounds with GMPPB: view

Transcripts for GMPPB Gene

Unigene Clusters for GMPPB Gene

GDP-mannose pyrophosphorylase B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GMPPB Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for GMPPB Gene

GeneLoc Exon Structure for
GMPPB
ECgene alternative splicing isoforms for
GMPPB

Expression for GMPPB Gene

mRNA expression in normal human tissues for GMPPB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GMPPB Gene

SOURCE GeneReport for Unigene cluster for GMPPB Gene Hs.567488

genes like me logo Genes that share expressions with GMPPB: view

Orthologs for GMPPB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GMPPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GMPPB 36
  • 99.91 (n)
  • 100 (a)
GMPPB 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GMPPB 36
  • 89.81 (n)
  • 95.56 (a)
GMPPB 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GMPPB 36
  • 91.76 (n)
  • 97.78 (a)
GMPPB 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gmppb 36
  • 90.46 (n)
  • 97.78 (a)
Gmppb 16
Gmppb 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GMPPB 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gmppb 36
  • 90.09 (n)
  • 97.5 (a)
chicken
(Gallus gallus)
Aves GMPPB 36
  • 77.37 (n)
  • 78.16 (a)
GMPPB 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GMPPB 37
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5745 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gmppb 36
  • 74.91 (n)
  • 82.22 (a)
Str.16262 36
zebrafish
(Danio rerio)
Actinopterygii gmppb 36
  • 73.52 (n)
  • 81.39 (a)
gmppb 37
  • 81 (a)
OneToOne
wufc79b10 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001299 36
  • 69.27 (n)
  • 72.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1129 36
  • 66.11 (n)
  • 70.39 (a)
CG1129 37
  • 68 (a)
OneToOne
CG1129 38
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-335 36
  • 59.7 (n)
  • 64.07 (a)
tag-335 37
  • 63 (a)
OneToOne
C42C1.5 38
  • 58 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR599W 36
  • 60.83 (n)
  • 57.5 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSA1 36
  • 57.78 (n)
  • 58.33 (a)
PSA1 37
  • 58 (a)
OneToMany
PSA1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05435g 36
  • 56.02 (n)
  • 56.94 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7390 36
thale cress
(Arabidopsis thaliana)
eudicotyledons CYT1 36
  • 59.63 (n)
  • 61.94 (a)
corn
(Zea mays)
Liliopsida Zm.6307 36
rice
(Oryza sativa)
Liliopsida Os.43951 36
Os03g0268400 36
  • 64.72 (n)
  • 61.39 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6794 36
bread mold
(Neurospora crassa)
Ascomycetes NCU11213 36
  • 63.33 (n)
  • 60.28 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mpg1 36
  • 59.17 (n)
  • 60.28 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10300 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9806 37
  • 71 (a)
OneToOne
Species with no ortholog for GMPPB:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GMPPB Gene

ENSEMBL:
Gene Tree for GMPPB (if available)
TreeFam:
Gene Tree for GMPPB (if available)

Paralogs for GMPPB Gene

Paralogs for GMPPB Gene

Selected SIMAP similar genes for GMPPB Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GMPPB: view

Variants for GMPPB Gene

Sequence variations from dbSNP and Humsavar for GMPPB Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2291543 -- 49,723,563(-) GTTCG(C/G)ATCTG intron-variant
rs11547261 -- 49,723,044(-) AGTGA(C/T)GTGAT reference, synonymous-codon
rs11547262 -- 49,722,248(-) GCATT(G/T)TGGGC reference, missense
rs17598300 -- 49,722,999(+) TGGTG(C/T)CGGTG synonymous-codon, reference
rs17598341 -- 49,723,056(+) TTGAG(A/G)ACGAA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for GMPPB Gene

Variant ID Type Subtype PubMed ID
nsv508217 CNV Loss 20534489

Relevant External Links for GMPPB Gene

HapMap Linkage Disequilibrium report
GMPPB
Human Gene Mutation Database (HGMD)
GMPPB

Disorders for GMPPB Gene

(3) OMIM Diseases for GMPPB Gene (615320)

UniProtKB/Swiss-Prot

GMPPB_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. {ECO:0000269 PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. {ECO:0000269 PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. {ECO:0000269 PubMed:23768512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for GMPPB Gene

Relevant External Links for GMPPB

Genetic Association Database (GAD)
GMPPB
Human Genome Epidemiology (HuGE) Navigator
GMPPB
genes like me logo Genes that share disorders with GMPPB: view

Publications for GMPPB Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PMID: 20307617) Morgan A.R. … Ferguson L.R. (Hum. Immunol. 2010) 3 49
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of I+-dystroglycan. (PMID: 23768512) Carss K.J. … Muntoni F. (Am. J. Hum. Genet. 2013) 3 4

Products for GMPPB Gene

Sources for GMPPB Gene

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