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GMPPB (GDP-mannose pyrophosphorylase B)

Identity

Alias_symbol (synonym)KIAA1851
Other aliasMDDGA14
MDDGB14
MDDGC14
HGNC (Hugo) GMPPB
LocusID (NCBI) 29925
Atlas_Id 63857
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 49721476 and ends at 49723974 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GMPPB (3p21.31) / GMPPB (3p21.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GMPPB   22932
Cards
Entrez_Gene (NCBI)GMPPB  29925  GDP-mannose pyrophosphorylase B
AliasesMDDGA14; MDDGB14; MDDGC14
GeneCards (Weizmann)GMPPB
Ensembl hg19 (Hinxton)ENSG00000173540 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173540 [Gene_View]  chr3:49721476-49723974 [Contig_View]  GMPPB [Vega]
ICGC DataPortalENSG00000173540
TCGA cBioPortalGMPPB
AceView (NCBI)GMPPB
Genatlas (Paris)GMPPB
WikiGenes29925
SOURCE (Princeton)GMPPB
Genetics Home Reference (NIH)GMPPB
Genomic and cartography
GoldenPath hg38 (UCSC)GMPPB  -     chr3:49721476-49723974 -  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GMPPB  -     3p21.31   [Description]    (hg19-Feb_2009)
EnsemblGMPPB - 3p21.31 [CytoView hg19]  GMPPB - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBIGMPPB [Mapview hg19]  GMPPB [Mapview hg38]
OMIM615320   615350   615351   615352   
Gene and transcription
Genbank (Entrez)AF135421 AK024319 AK026582 AK291700 BC001141
RefSeq transcript (Entrez)NM_013334 NM_021971
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GMPPB
Cluster EST : UnigeneHs.567488 [ NCBI ]
CGAP (NCI)Hs.567488
Alternative Splicing GalleryENSG00000173540
Gene ExpressionGMPPB [ NCBI-GEO ]   GMPPB [ EBI - ARRAY_EXPRESS ]   GMPPB [ SEEK ]   GMPPB [ MEM ]
Gene Expression Viewer (FireBrowse)GMPPB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29925
GTEX Portal (Tissue expression)GMPPB
Human Protein AtlasENSG00000173540-GMPPB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5P6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5P6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5P6
Splice isoforms : SwissVarQ9Y5P6
Catalytic activity : Enzyme2.7.7.13 [ Enzyme-Expasy ]   2.7.7.132.7.7.13 [ IntEnz-EBI ]   2.7.7.13 [ BRENDA ]   2.7.7.13 [ KEGG ]   
PhosPhoSitePlusQ9Y5P6
Domaine pattern : Prosite (Expaxy)HEXAPEP_TRANSFERASES (PS00101)   
Domains : Interpro (EBI)Hexapep    Hexapep_transf_CS    NTP_transferase_dom    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Hexapep (PF00132)    NTP_transferase (PF00483)   
Domain families : Pfam (NCBI)pfam00132    pfam00483   
Conserved Domain (NCBI)GMPPB
DMDM Disease mutations29925
Blocks (Seattle)GMPPB
SuperfamilyQ9Y5P6
Human Protein Atlas [tissue]ENSG00000173540-GMPPB [tissue]
Peptide AtlasQ9Y5P6
HPRD13589
IPIIPI00030920   IPI00002496   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5P6
IntAct (EBI)Q9Y5P6
FunCoupENSG00000173540
BioGRIDGMPPB
STRING (EMBL)GMPPB
ZODIACGMPPB
Ontologies - Pathways
QuickGOQ9Y5P6
Ontology : AmiGOmannose-1-phosphate guanylyltransferase activity  protein binding  GTP binding  cytoplasm  mitochondrion  GDP-mannose biosynthetic process  extracellular exosome  
Ontology : EGO-EBImannose-1-phosphate guanylyltransferase activity  protein binding  GTP binding  cytoplasm  mitochondrion  GDP-mannose biosynthetic process  extracellular exosome  
Pathways : KEGGFructose and mannose metabolism    Amino sugar and nucleotide sugar metabolism   
NDEx NetworkGMPPB
Atlas of Cancer Signalling NetworkGMPPB
Wikipedia pathwaysGMPPB
Orthology - Evolution
OrthoDB29925
GeneTree (enSembl)ENSG00000173540
Phylogenetic Trees/Animal Genes : TreeFamGMPPB
HOVERGENQ9Y5P6
HOGENOMQ9Y5P6
Homologs : HomoloGeneGMPPB
Homology/Alignments : Family Browser (UCSC)GMPPB
Gene fusions - Rearrangements
Fusion: Tumor Portal GMPPB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGMPPB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GMPPB
dbVarGMPPB
ClinVarGMPPB
1000_GenomesGMPPB 
Exome Variant ServerGMPPB
ExAC (Exome Aggregation Consortium)ENSG00000173540
GNOMAD BrowserENSG00000173540
Genetic variants : HAPMAP29925
Genomic Variants (DGV)GMPPB [DGVbeta]
DECIPHERGMPPB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGMPPB 
Mutations
ICGC Data PortalGMPPB 
TCGA Data PortalGMPPB 
Broad Tumor PortalGMPPB
OASIS PortalGMPPB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGMPPB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGMPPB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GMPPB
DgiDB (Drug Gene Interaction Database)GMPPB
DoCM (Curated mutations)GMPPB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GMPPB (select a term)
intoGenGMPPB
Cancer3DGMPPB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615320    615350    615351    615352   
Orphanet22509    22510    22329    22137    8726   
MedgenGMPPB
Genetic Testing Registry GMPPB
NextProtQ9Y5P6 [Medical]
TSGene29925
GENETestsGMPPB
Target ValidationGMPPB
Huge Navigator GMPPB [HugePedia]
snp3D : Map Gene to Disease29925
BioCentury BCIQGMPPB
ClinGenGMPPB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29925
Chemical/Pharm GKB GenePA134875590
Clinical trialGMPPB
Miscellaneous
canSAR (ICR)GMPPB (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGMPPB
EVEXGMPPB
GoPubMedGMPPB
iHOPGMPPB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:49:13 CET 2017

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