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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

Donate (in Euros)

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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 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
cBioPortalGNPTAB
AceView (NCBI)GNPTAB
Genatlas (Paris)GNPTAB
WikiGenes79158
SOURCE (Princeton)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)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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    DUF3184    EF_Hand_1_Ca_BS    EF_hand_dom    Notch_dom   
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
Peptide AtlasQ3T906
HPRD11350
IPIIPI00382432   IPI00735667   IPI00798028   IPI01022173   IPI01020942   IPI01021073   IPI01021256   IPI01022584   
Protein Interaction databases
DIP (DOE-UCLA)Q3T906
IntAct (EBI)Q3T906
FunCoupENSG00000111670
BioGRIDGNPTAB
IntegromeDBGNPTAB
STRING (EMBL)GNPTAB
Ontologies - Pathways
QuickGOQ3T906
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
DoCM (Curated mutations)GNPTAB
Wikipedia pathwaysGNPTAB
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGNPTAB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GNPTAB
dbVarGNPTAB
ClinVarGNPTAB
1000_GenomesGNPTAB 
Exome Variant ServerGNPTAB
SNP (GeneSNP Utah)GNPTAB
SNP : HGBaseGNPTAB
Genetic variants : HAPMAPGNPTAB
Genomic Variants (DGV)GNPTAB [DGVbeta]
Mutations
ICGC Data PortalENSG00000111670 
Somatic Mutations in Cancer : COSMICGNPTAB 
CONAN: Copy Number AnalysisGNPTAB 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:102139275-102224645
Mutations and Diseases : HGMDGNPTAB
OMIM252500    252600    607840   
MedgenGNPTAB
NextProtQ3T906 [Medical]
GENETestsGNPTAB
Disease Genetic AssociationGNPTAB
Huge Navigator GNPTAB [HugePedia]  GNPTAB [HugeCancerGEM]
snp3D : Map Gene to Disease79158
DGIdb (Drug Gene Interaction db)GNPTAB
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
GoPubMedGNPTAB
iHOPGNPTAB
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 14 16:02:40 CET 2015

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