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GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits)

Identity

Alias_namesGNPTA
N-acetylglucosamine-1-phosphate transferase
Alias_symbol (synonym)KIAA1208
MGC4170
HGNC (Hugo) GNPTAB
LocusID (NCBI) 79158
Atlas_Id 53664
Location 12q23.2  [Link to chromosome band 12q23]
Location_base_pair Starts at 102139275 and ends at 102224645 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDA (1p36.12) / GNPTAB (12q23.2)GNPTAB (12q23.2) / ARID2 (12q12)GNPTAB (12q23.2) / CCDC53 (12q23.2)
GNPTAB (12q23.2) / GNPTAB (12q23.2)MAPKAPK5 (12q24.12) / GNPTAB (12q23.2)XRN1 (3q23) / GNPTAB (12q23.2)
MAPKAPK5 12q24.12 / GNPTAB 12q23.2

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)GNPTAB   29670
Cards
Entrez_Gene (NCBI)GNPTAB  79158  N-acetylglucosamine-1-phosphate transferase alpha and beta subunits
AliasesGNPTA; ICD
GeneCards (Weizmann)GNPTAB
Ensembl hg19 (Hinxton)ENSG00000111670 [Gene_View]  chr12:102139275-102224645 [Contig_View]  GNPTAB [Vega]
Ensembl hg38 (Hinxton)ENSG00000111670 [Gene_View]  chr12:102139275-102224645 [Contig_View]  GNPTAB [Vega]
ICGC DataPortalENSG00000111670
TCGA cBioPortalGNPTAB
AceView (NCBI)GNPTAB
Genatlas (Paris)GNPTAB
WikiGenes79158
SOURCE (Princeton)GNPTAB
Genetics Home Reference (NIH)GNPTAB
Genomic and cartography
GoldenPath hg19 (UCSC)GNPTAB  -     chr12:102139275-102224645 -  12q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GNPTAB  -     12q23.2   [Description]    (hg38-Dec_2013)
EnsemblGNPTAB - 12q23.2 [CytoView hg19]  GNPTAB - 12q23.2 [CytoView hg38]
Mapping of homologs : NCBIGNPTAB [Mapview hg19]  GNPTAB [Mapview hg38]
OMIM252500   252600   607840   
Gene and transcription
Genbank (Entrez)AB033034 AI418963 AI479646 AK001821 AK056137
RefSeq transcript (Entrez)NM_024312
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_021243 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)GNPTAB
Cluster EST : UnigeneHs.46850 [ NCBI ]
CGAP (NCI)Hs.46850
Alternative Splicing GalleryENSG00000111670
Gene ExpressionGNPTAB [ NCBI-GEO ]   GNPTAB [ EBI - ARRAY_EXPRESS ]   GNPTAB [ SEEK ]   GNPTAB [ MEM ]
Gene Expression Viewer (FireBrowse)GNPTAB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79158
GTEX Portal (Tissue expression)GNPTAB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3T906   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3T906  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3T906
Splice isoforms : SwissVarQ3T906
PhosPhoSitePlusQ3T906
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    LNR (PS50258)   
Domains : Interpro (EBI)DMAP1-bd    EF_Hand_1_Ca_BS    EF_hand_dom    Notch_dom    Stealth_CR1    Stealth_CR2    Stealth_CR3    Stealth_CR4   
Domain families : Pfam (Sanger)DMAP_binding (PF06464)    Notch (PF00066)    Stealth_CR1 (PF17101)    Stealth_CR2 (PF11380)    Stealth_CR3 (PF17102)    Stealth_CR4 (PF17103)   
Domain families : Pfam (NCBI)pfam06464    pfam00066    pfam17101    pfam11380    pfam17102    pfam17103   
Domain families : Smart (EMBL)NL (SM00004)  
Conserved Domain (NCBI)GNPTAB
DMDM Disease mutations79158
Blocks (Seattle)GNPTAB
PDB (SRS)2N6D   
PDB (PDBSum)2N6D   
PDB (IMB)2N6D   
PDB (RSDB)2N6D   
Structural Biology KnowledgeBase2N6D   
SCOP (Structural Classification of Proteins)2N6D   
CATH (Classification of proteins structures)2N6D   
SuperfamilyQ3T906
Human Protein AtlasENSG00000111670
Peptide AtlasQ3T906
HPRD11350
IPIIPI00382432   IPI00735667   IPI00798028   IPI01022173   IPI01020942   IPI01021073   IPI01021256   IPI01022584   
Protein Interaction databases
DIP (DOE-UCLA)Q3T906
IntAct (EBI)Q3T906
FunCoupENSG00000111670
BioGRIDGNPTAB
STRING (EMBL)GNPTAB
ZODIACGNPTAB
Ontologies - Pathways
QuickGOQ3T906
Ontology : AmiGOGolgi membrane  UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity  UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity  calcium ion binding  protein binding  Golgi apparatus  lysosome organization  protein secretion  integral component of membrane  N-glycan processing to lysosome  carbohydrate phosphorylation  
Ontology : EGO-EBIGolgi membrane  UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity  UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity  calcium ion binding  protein binding  Golgi apparatus  lysosome organization  protein secretion  integral component of membrane  N-glycan processing to lysosome  carbohydrate phosphorylation  
Pathways : KEGGLysosome   
NDEx NetworkGNPTAB
Atlas of Cancer Signalling NetworkGNPTAB
Wikipedia pathwaysGNPTAB
Orthology - Evolution
OrthoDB79158
GeneTree (enSembl)ENSG00000111670
Phylogenetic Trees/Animal Genes : TreeFamGNPTAB
HOVERGENQ3T906
HOGENOMQ3T906
Homologs : HomoloGeneGNPTAB
Homology/Alignments : Family Browser (UCSC)GNPTAB
Gene fusions - Rearrangements
Fusion : MitelmanMAPKAPK5/GNPTAB [12q24.12/12q23.2]  [t(12;12)(q23;q24)]  
Fusion: TCGAMAPKAPK5 12q24.12 GNPTAB 12q23.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGNPTAB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GNPTAB
dbVarGNPTAB
ClinVarGNPTAB
1000_GenomesGNPTAB 
Exome Variant ServerGNPTAB
ExAC (Exome Aggregation Consortium)GNPTAB (select the gene name)
Genetic variants : HAPMAP79158
Genomic Variants (DGV)GNPTAB [DGVbeta]
DECIPHER (Syndromes)12:102139275-102224645  ENSG00000111670
CONAN: Copy Number AnalysisGNPTAB 
Mutations
ICGC Data PortalGNPTAB 
TCGA Data PortalGNPTAB 
Broad Tumor PortalGNPTAB
OASIS PortalGNPTAB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGNPTAB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGNPTAB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GNPTAB
DgiDB (Drug Gene Interaction Database)GNPTAB
DoCM (Curated mutations)GNPTAB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GNPTAB (select a term)
intoGenGNPTAB
Cancer3DGNPTAB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252500    252600    607840   
Orphanet27    23158   
MedgenGNPTAB
Genetic Testing Registry GNPTAB
NextProtQ3T906 [Medical]
TSGene79158
GENETestsGNPTAB
Huge Navigator GNPTAB [HugePedia]
snp3D : Map Gene to Disease79158
BioCentury BCIQGNPTAB
ClinGenGNPTAB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79158
Chemical/Pharm GKB GenePA128394710
Clinical trialGNPTAB
Miscellaneous
canSAR (ICR)GNPTAB (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGNPTAB
EVEXGNPTAB
GoPubMedGNPTAB
iHOPGNPTAB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:38:34 CET 2016

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