APTX (aprataxin)

Identity

Other names	AOA
	AOA1
	AXA1
	EAOH
	EOAHA
	FHA-HIT
	FLJ20157
	MGC1072
HGNC	APTX
Location	9p13.3
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	APTX   15984
Entrez_Gene	APTX  54840  aprataxin
	Cards
GeneCards	APTX
Ensembl	APTX [Search_View]   ENSG00000137074 [Gene_View]
Genatlas	APTX
GeneLynx	APTX
eGenome	APTX
euGene	54840
	Genomic and cartography
GoldenPath	APTX  -  9p13.3   chr9:32962608-32980086 -  9p13.3   [Description]    (hg18-March_2006)
Ensembl	APTX - 9p13.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	APTX
	Gene and transcription
Genbank	AJ565850 [ ENTREZ ]
Genbank	AJ565851 [ ENTREZ ]
Genbank	AJ565852 [ ENTREZ ]
Genbank	AJ565853 [ ENTREZ ]
Genbank	AJ565854 [ ENTREZ ]
RefSeq	NM_017692 [ SRS ]    NM_017692 [ ENTREZ ]
RefSeq	NM_175069 [ SRS ]    NM_175069 [ ENTREZ ]
RefSeq	NM_175071 [ SRS ]    NM_175071 [ ENTREZ ]
RefSeq	NM_175072 [ SRS ]    NM_175072 [ ENTREZ ]
RefSeq	NM_175073 [ SRS ]    NM_175073 [ ENTREZ ]
RefSeq	AC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeq	AC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeq	NC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeq	NT_008413 [ SRS ]    NT_008413 [ ENTREZ ]
RefSeq	NW_001839149 [ SRS ]    NW_001839149 [ ENTREZ ]
RefSeq	NW_924062 [ SRS ]    NW_924062 [ ENTREZ ]
AceView	APTX AceView - NCBI
Unigene	Hs.20158 [ SRS ]    Hs.20158 [ NCBI ]     HS20158 [ spliceNest ]
Fast-db	4038 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q0P662 [ SRS]    Q0P662 [ EXPASY ]     Q0P662 [ INTERPRO ]     Q0P662 [ UNIPROT ]
Prosite	PS00892 HIT_1 [ SRS ]    PS00892 HIT_1 [ Expasy ]
Prosite	PS51084 HIT_2 [ SRS ]    PS51084 HIT_2 [ Expasy ]
Prosite	PS00028 ZINC_FINGER_C2H2_1 [ SRS ]    PS00028 ZINC_FINGER_C2H2_1 [ Expasy ]
Interpro	IPR011151 His_triad_motif [ SRS ]    IPR011151 His_triad_motif [ EBI ]
Interpro	IPR001310 HIT [ SRS ]    IPR001310 HIT [ EBI ]
Interpro	IPR007087 Znf_C2H2 [ SRS ]    IPR007087 Znf_C2H2 [ EBI ]
Interpro	IPR015880 Znf_C2H2-like [ SRS ]    IPR015880 Znf_C2H2-like [ EBI ]
CluSTr	Q0P662
Pfam	PF01230 HIT [ SRS ]    PF01230 HIT [ Sanger ]    pfam01230 [ NCBI-CDD ]
Smart	SM00355 ZnF_C2H2 [EMBL]
Blocks	Q0P662
HPRD	05892
	Protein Interaction databases
DIP	Q0P662
IntAct	Q0P662
	Polymorphism : SNP, mutations, diseases
OMIM	208920;606350;607426    [ map ]
GENECLINICS	208920;606350;607426
SNP	APTX [dbSNP-NCBI]
SNP	NM_017692 [SNP-NCI]
SNP	NM_175069 [SNP-NCI]
SNP	NM_175071 [SNP-NCI]
SNP	NM_175072 [SNP-NCI]
SNP	NM_175073 [SNP-NCI]
SNP	APTX [GeneSNPs - Utah]  APTX] [HGBASE - SRS]
HAPMAP	APTX [HAPMAP]
HGMD	APTX
	General knowledge
Family Browser	APTX [UCSC Family Browser]
SOURCE	NM_017692
SOURCE	NM_175069
SOURCE	NM_175071
SOURCE	NM_175072
SOURCE	NM_175073
SMD	Hs.20158
SAGE	Hs.20158
GO	single strand break repair [Amigo]  single strand break repair
GO	chromatin [Amigo]  chromatin
GO	chromatin binding [Amigo]  chromatin binding
GO	damaged DNA binding [Amigo]  damaged DNA binding
GO	double-stranded DNA binding [Amigo]  double-stranded DNA binding
GO	double-stranded RNA binding [Amigo]  double-stranded RNA binding
GO	catalytic activity [Amigo]  catalytic activity
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	nucleoplasm [Amigo]  nucleoplasm
GO	nucleolus [Amigo]  nucleolus
GO	cell death [Amigo]  cell death
GO	zinc ion binding [Amigo]  zinc ion binding
GO	phosphoglycolate phosphatase activity [Amigo]  phosphoglycolate phosphatase activity
GO	hydrolase activity [Amigo]  hydrolase activity
GO	regulation of protein stability [Amigo]  regulation of protein stability
GO	DNA 5'-adenosine monophosphate hydrolase activity [Amigo]  DNA 5'-adenosine monophosphate hydrolase activity
GO	response to hydrogen peroxide [Amigo]  response to hydrogen peroxide
GO	metal ion binding [Amigo]  metal ion binding
GO	protein N-terminus binding [Amigo]  protein N-terminus binding
PubGene	APTX
TreeFam	APTX
CTD	54840 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	APTX Related clones (RZPD - Berlin)
	PubMed
PubMed	40 Pubmed reference(s) in LocusLink

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 20:00:35 2008