Atlas of Genetics and Cytogenetics in Oncology and Haematology


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APTX (aprataxin)

Identity

Other namesAOA
AOA1
AXA1
EAOH
EOAHA
FHA-HIT
HGNC (Hugo) APTX
LocusID (NCBI) 54840
Location 9p21.1
Location_base_pair Starts at 32972604 and ends at 33001639 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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)APTX   15984
Cards
Entrez_Gene (NCBI)APTX  54840  aprataxin
GeneCards (Weizmann)APTX
Ensembl (Hinxton)ENSG00000137074 [Gene_View]  chr9:32972604-33001639 [Contig_View]  APTX [Vega]
ICGC DataPortalENSG00000137074
cBioPortalAPTX
AceView (NCBI)APTX
Genatlas (Paris)APTX
WikiGenes54840
SOURCE (Princeton)NM_001195248 NM_001195249 NM_001195250 NM_001195251 NM_001195252 NM_001195254 NM_017692 NM_175069 NM_175072 NM_175073
Genomic and cartography
GoldenPath (UCSC)APTX  -  9p21.1   chr9:32972604-33001639 -  9p21.1   [Description]    (hg19-Feb_2009)
EnsemblAPTX - 9p21.1 [CytoView]
Mapping of homologs : NCBIAPTX [Mapview]
OMIM208920   606350   
Gene and transcription
Genbank (Entrez)AA494365 AB603741 AJ565850 AJ565851 AJ565852
RefSeq transcript (Entrez)NM_001195248 NM_001195249 NM_001195250 NM_001195251 NM_001195252 NM_001195254 NM_017692 NM_175069 NM_175072 NM_175073
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_012821 NT_008413 NW_001839149 NW_004929342
Consensus coding sequences : CCDS (NCBI)APTX
Cluster EST : UnigeneHs.20158 [ NCBI ]
CGAP (NCI)Hs.20158
Alternative Splicing : Fast-db (Paris)GSHG0030750
Alternative Splicing GalleryENSG00000137074
Gene ExpressionAPTX [ NCBI-GEO ]     APTX [ SEEK ]   APTX [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z2E3 (Uniprot)
NextProtQ7Z2E3  [Medical]
With graphics : InterProQ7Z2E3
Splice isoforms : SwissVarQ7Z2E3 (Swissvar)
Catalytic activity : Enzyme3.-.-.- [ Enzyme-Expasy ]   3.-.-.-3.-.-.- [ IntEnz-EBI ]   3.-.-.- [ BRENDA ]   3.-.-.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)HIT_1 (PS00892)    HIT_2 (PS51084)    ZINC_FINGER_C2H2_1 (PS00028)   
Domains : Interpro (EBI)FHA_dom [organisation]   Histidine_triad_CS [organisation]   Histidine_triad_HIT [organisation]   HIT-like [organisation]   SMAD_FHA_domain [organisation]   Znf_C2H2 [organisation]   Znf_C2H2-like [organisation]  
Related proteins : CluSTrQ7Z2E3
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
DMDM Disease mutations54840
Blocks (Seattle)Q7Z2E3
PDB (SRS)3KT9    4NDF    4NDG    4NDH    4NDI   
PDB (PDBSum)3KT9    4NDF    4NDG    4NDH    4NDI   
PDB (IMB)3KT9    4NDF    4NDG    4NDH    4NDI   
PDB (RSDB)3KT9    4NDF    4NDG    4NDH    4NDI   
Human Protein AtlasENSG00000137074 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ7Z2E3
HPRD05892
IPIIPI00420029   IPI00411460   IPI00180685   IPI00420030   IPI00375305   IPI00420031   IPI00414767   IPI00420033   IPI00979014   IPI00428970   IPI00554783   IPI00428972   IPI00428971   IPI00947276   IPI00946014   IPI00946396   IPI00947105   IPI00946983   IPI00946799   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z2E3
IntAct (EBI)Q7Z2E3
FunCoupENSG00000137074
BioGRIDAPTX
InParanoidQ7Z2E3
Interologous Interaction database Q7Z2E3
IntegromeDBAPTX
STRING (EMBL)APTX
Ontologies - Pathways
Ontology : AmiGOsingle strand break repair  DNA catabolic process, exonucleolytic  DNA catabolic process, exonucleolytic  chromatin  nuclear chromatin  chromatin binding  damaged DNA binding  double-stranded DNA binding  double-stranded RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  DNA ligation  double-strand break repair  cellular response to DNA damage stimulus  cell death  phosphoglycolate phosphatase activity  dephosphorylation  regulation of protein stability  DNA 5'-adenosine monophosphate hydrolase activity  response to hydrogen peroxide  polynucleotide 3'-phosphatase activity  metal ion binding  protein N-terminus binding  phosphoprotein binding  polynucleotide 3' dephosphorylation  
Ontology : EGO-EBIsingle strand break repair  DNA catabolic process, exonucleolytic  DNA catabolic process, exonucleolytic  chromatin  nuclear chromatin  chromatin binding  damaged DNA binding  double-stranded DNA binding  double-stranded RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  DNA ligation  double-strand break repair  cellular response to DNA damage stimulus  cell death  phosphoglycolate phosphatase activity  dephosphorylation  regulation of protein stability  DNA 5'-adenosine monophosphate hydrolase activity  response to hydrogen peroxide  polynucleotide 3'-phosphatase activity  metal ion binding  protein N-terminus binding  phosphoprotein binding  polynucleotide 3' dephosphorylation  
Protein Interaction DatabaseAPTX
Wikipedia pathwaysAPTX
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)APTX
snp3D : Map Gene to Disease54840
SNP (GeneSNP Utah)APTX
SNP : HGBaseAPTX
Genetic variants : HAPMAPAPTX
Exome VariantAPTX
1000_GenomesAPTX 
ICGC programENSG00000137074 
Somatic Mutations in Cancer : COSMICAPTX 
CONAN: Copy Number AnalysisAPTX 
Mutations and Diseases : HGMDAPTX
Mutations and Diseases : intOGenAPTX
Genomic VariantsAPTX  APTX [DGVbeta]
dbVarAPTX
ClinVarAPTX
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM208920    606350   
MedgenAPTX
GENETestsAPTX
Disease Genetic AssociationAPTX
Huge Navigator APTX [HugePedia]  APTX [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneAPTX
Homology/Alignments : Family Browser (UCSC)APTX
Phylogenetic Trees/Animal Genes : TreeFamAPTX
Chemical/Protein Interactions : CTD54840
Chemical/Pharm GKB GenePA24915
Clinical trialAPTX
Cancer Resource (Charite)ENSG00000137074
Other databases
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
CoreMineAPTX
iHOPAPTX
OncoSearchAPTX
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 : Mon Sep 22 18:38:51 CEST 2014

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