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Aliases for GMPPB Gene

Aliases for GMPPB Gene

  • GDP-Mannose Pyrophosphorylase B 2 3 4 5
  • GTP-Mannose-1-Phosphate Guanylyltransferase Beta 3 4
  • EC 2.7.7.13 4 63
  • Mannose-1-Phosphate Guanyltransferase Beta 2
  • MDDGA14 3
  • MDDGB14 3
  • MDDGC14 3

External Ids for GMPPB Gene

Previous GeneCards Identifiers for GMPPB Gene

  • GC03P046353
  • GC03P048643
  • GC03M049611
  • GC03M049717
  • GC03M049733
  • GC03M049754

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 muscular dystrophy-dystroglycanopathy , type c, 14 and muscular dystrophy-dystroglycanopathy , type a, 14. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. 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

Regulatory Elements for GMPPB Gene

Promoters for GMPPB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GMPPB on UCSC Golden Path with GeneCards custom track

Genomic Location for GMPPB Gene

Chromosome:
3
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

Genes around GMPPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GMPPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GMPPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GMPPB

Domains & Families for GMPPB Gene

Suggested Antigen Peptide Sequences for GMPPB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5P6

UniProtKB/Swiss-Prot:

GMPPB_HUMAN :
  • Belongs to the transferase hexapeptide repeat family.
Family:
  • Belongs to the transferase hexapeptide repeat family.
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 --
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

Human Phenotype Ontology for GMPPB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GMPPB Gene

No data available for Animal Models , Transcription Factor Targets 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
extracellular 5
mitochondrion 4
cytosol 3
chloroplast 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GMPPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23768512
genes like me logo Genes that share ontologies with GMPPB: view

Pathways & Interactions 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:0009058 biosynthetic process IEA --
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

No data available for SIGNOR curated interactions for GMPPB Gene

Drugs & Compounds for GMPPB Gene

(4) Drugs for GMPPB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diphosphate Experimental Pharma 0
D-Mannose 1-phosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for GMPPB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Guanosine diphosphate mannose
  • GDP Mannose
  • GDP-D-Mannose
  • GDP-Glucose
  • GDP-Mannose
  • Guanosine Diphosphate Mannose
3123-67-9
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
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

Protein differential expression in normal tissues from HIPED for GMPPB Gene

This gene is overexpressed in Skin (9.3) and Salivary gland (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GMPPB: view

Protein tissue co-expression partners for GMPPB Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GMPPB Gene

Orthologs for GMPPB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GMPPB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GMPPB 35
  • 89.81 (n)
  • 95.56 (a)
GMPPB 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GMPPB 35
  • 91.76 (n)
  • 97.78 (a)
GMPPB 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gmppb 35
  • 90.46 (n)
  • 97.78 (a)
Gmppb 16
Gmppb 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GMPPB 35
  • 99.91 (n)
  • 100 (a)
GMPPB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gmppb 35
  • 90.09 (n)
  • 97.5 (a)
oppossum
(Monodelphis domestica)
Mammalia GMPPB 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves GMPPB 35
  • 77.37 (n)
  • 78.16 (a)
GMPPB 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GMPPB 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gmppb 35
  • 74.91 (n)
  • 82.22 (a)
Str.16262 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.5745 35
zebrafish
(Danio rerio)
Actinopterygii gmppb 35
  • 73.52 (n)
  • 81.39 (a)
wufc79b10 35
gmppb 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1129 37
  • 65 (a)
CG1129 35
  • 66.11 (n)
  • 70.39 (a)
CG1129 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001299 35
  • 69.27 (n)
  • 72.42 (a)
worm
(Caenorhabditis elegans)
Secernentea C42C1.5 37
  • 58 (a)
tag-335 35
  • 59.7 (n)
  • 64.07 (a)
tag-335 36
  • 63 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR599W 35
  • 60.83 (n)
  • 57.5 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05435g 35
  • 56.02 (n)
  • 56.94 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSA1 35
  • 57.78 (n)
  • 58.33 (a)
PSA1 36
  • 58 (a)
OneToMany
PSA1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons CYT1 35
  • 59.63 (n)
  • 61.94 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7390 35
rice
(Oryza sativa)
Liliopsida Os.43951 35
Os03g0268400 35
  • 64.72 (n)
  • 61.39 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6794 35
corn
(Zea mays)
Liliopsida Zm.6307 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10300 35
bread mold
(Neurospora crassa)
Ascomycetes NCU11213 35
  • 63.33 (n)
  • 60.28 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mpg1 35
  • 59.17 (n)
  • 60.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9806 36
  • 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

(1) 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
rs34345884 - 49,722,998(+) ATGGT(C/G)CCGGT reference, missense
rs1466685 - 49,722,606(-) GCTGC(A/G)GCGCA reference, missense
VAR_070142 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
VAR_070143 Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
VAR_070144 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)

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

Variant ID Type Subtype PubMed ID
nsv508217 CNV Loss 20534489

Variation tolerance for GMPPB Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GMPPB Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GMPPB Gene

Disorders for GMPPB Gene

MalaCards: The human disease database

(13) MalaCards diseases for GMPPB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type c, 14
  • limb-girdle muscular dystrophy type 2t
muscular dystrophy-dystroglycanopathy , type a, 14
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a14
muscular dystrophy-dystroglycanopathy , type b, 14
  • muscular dystrophy-dystroglycanopathy congenital with mental retardation b14
congenital myasthenic syndromes with glycosylation defect
congenital muscular dystrophy with intellectual disability
  • cmd with intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search GMPPB in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GMPPB

Genetic Association Database (GAD)
GMPPB
Human Genome Epidemiology (HuGE) Navigator
GMPPB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GMPPB
genes like me logo Genes that share disorders with GMPPB: view

No data available for Genatlas for GMPPB Gene

Publications for GMPPB Gene

  1. 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 67
  2. Expanding the phenotype of GMPPB mutations. (PMID: 25681410) Cabrera-Serrano M. … Laing N.G. (Brain 2015) 3
  3. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. (PMID: 26133662) Belaya K. … Beeson D. (Brain 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for GMPPB Gene

Sources for GMPPB Gene

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