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

Identity

Other namesGNPTA
ICD
HGNC (Hugo) GNPTAB
LocusID (NCBI) 79158
Location 12q23.2
Location_base_pair Starts at 102139275 and ends at 102224645 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)GNPTAB   29670
Cards
Entrez_Gene (NCBI)GNPTAB  79158  N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GeneCards (Weizmann)GNPTAB
Ensembl (Hinxton)ENSG00000111670 [Gene_View]  chr12:102139275-102224645 [Contig_View]  GNPTAB [Vega]
ICGC DataPortalENSG00000111670
cBioPortalGNPTAB
AceView (NCBI)GNPTAB
Genatlas (Paris)GNPTAB
WikiGenes79158
SOURCE (Princeton)NM_024312
Genomic and cartography
GoldenPath (UCSC)GNPTAB  -  12q23.2   chr12:102139275-102224645 -  12q23.2   [Description]    (hg19-Feb_2009)
EnsemblGNPTAB - 12q23.2 [CytoView]
Mapping of homologs : NCBIGNPTAB [Mapview]
OMIM252500   252600   607840   
Gene and transcription
Genbank (Entrez)AB033034 AI418963 AI479646 AK001821 AK056137
RefSeq transcript (Entrez)NM_024312
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_021243 NT_029419 NW_001838061 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 [ SEEK ]   GNPTAB [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3T906 (Uniprot)
NextProtQ3T906  [Medical]
With graphics : InterProQ3T906
Splice isoforms : SwissVarQ3T906 (Swissvar)
Catalytic activity : Enzyme2.7.8.17 [ Enzyme-Expasy ]   2.7.8.172.7.8.17 [ IntEnz-EBI ]   2.7.8.17 [ BRENDA ]   2.7.8.17 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    LNR (PS50258)   
Domains : Interpro (EBI)DMAP1-bd [organisation]   DUF3184 [organisation]   EF_Hand_1_Ca_BS [organisation]   EF_hand_dom [organisation]   Notch_dom [organisation]  
Related proteins : CluSTrQ3T906
Domain families : Pfam (Sanger)DMAP_binding (PF06464)    DUF3184 (PF11380)    Notch (PF00066)   
Domain families : Pfam (NCBI)pfam06464    pfam11380    pfam00066   
Domain families : Smart (EMBL)NL (SM00004)  
DMDM Disease mutations79158
Blocks (Seattle)Q3T906
Human Protein AtlasENSG00000111670 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ3T906
HPRD11350
IPIIPI00382432   IPI00735667   IPI00798028   IPI01022173   IPI01020942   IPI01021073   IPI01021256   IPI01022584   
Protein Interaction databases
DIP (DOE-UCLA)Q3T906
IntAct (EBI)Q3T906
FunCoupENSG00000111670
BioGRIDGNPTAB
InParanoidQ3T906
Interologous Interaction database Q3T906
IntegromeDBGNPTAB
STRING (EMBL)GNPTAB
Ontologies - Pathways
Ontology : AmiGOGolgi membrane  UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity  calcium ion binding  nucleus  Golgi apparatus  lysosome organization  transcription factor binding  protein secretion  integral component of membrane  cell differentiation  carbohydrate phosphorylation  
Ontology : EGO-EBIGolgi membrane  UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity  calcium ion binding  nucleus  Golgi apparatus  lysosome organization  transcription factor binding  protein secretion  integral component of membrane  cell differentiation  carbohydrate phosphorylation  
Pathways : KEGGLysosome   
Protein Interaction DatabaseGNPTAB
Wikipedia pathwaysGNPTAB
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GNPTAB
snp3D : Map Gene to Disease79158
SNP (GeneSNP Utah)GNPTAB
SNP : HGBaseGNPTAB
Genetic variants : HAPMAPGNPTAB
Exome VariantGNPTAB
1000_GenomesGNPTAB 
ICGC programENSG00000111670 
Somatic Mutations in Cancer : COSMICGNPTAB 
CONAN: Copy Number AnalysisGNPTAB 
Mutations and Diseases : HGMDGNPTAB
Mutations and Diseases : intOGenGNPTAB
Genomic VariantsGNPTAB  GNPTAB [DGVbeta]
dbVarGNPTAB
ClinVarGNPTAB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM252500    252600    607840   
MedgenGNPTAB
GENETestsGNPTAB
Disease Genetic AssociationGNPTAB
Huge Navigator GNPTAB [HugePedia]  GNPTAB [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneGNPTAB
Homology/Alignments : Family Browser (UCSC)GNPTAB
Phylogenetic Trees/Animal Genes : TreeFamGNPTAB
Chemical/Protein Interactions : CTD79158
Chemical/Pharm GKB GenePA128394710
Clinical trialGNPTAB
Cancer Resource (Charite)ENSG00000111670
Other databases
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
CoreMineGNPTAB
iHOPGNPTAB
OncoSearchGNPTAB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:48:20 CEST 2014

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