• Gene id: 54840

Gene Summary

• Gene Symbol: APTX   Gene   UCSC   Ensembl
• Aliases: AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
• Gene name: aprataxin
• Alternate names: aprataxin, forkhead-associated domain histidine triad-like protein,
• Gene location: 9p21.1 (98087166: 98330681)     Exons: 37     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene hav
• OMIM: 606350

Protein Summary

• Protein general information: Q7Z2E3  
  • Name: Aprataxin (EC 3.6.1.71) (EC 3.6.1.72) (Forkhead associated domain histidine triad like protein) (FHA HIT)
  • Length: 356  
  • Mass: 40740
  • Tissue specificity: Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed
• Sequence:

  MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQV
  GVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGT
  GLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSIS
  SLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEY
  FLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ

• Structural information:
  • Protein Domains: (38..8-)
    (/note="FHA-like-)
    (182..28-)
    (/note="HIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00464"-)
  • Interpro: IPR041388  IPR000253  IPR019808  IPR011146  IPR036265   IPR008984  IPR032566  IPR013087  
  • Prosite: PS00892 PS51084 PS00028
  • CDD: cd00060
  • PDB: 3KT9 4NDF 4NDG 4NDH 4NDI 6CVO 6CVP 6CVQ 6CVR 6CVS 6CVT
  • PDBsum: 3KT9 4NDF 4NDG 4NDH 4NDI 6CVO 6CVP 6CVQ 6CVR 6CVS 6CVT
  • STRING: ENSP00000400806
• Other Databases: GeneCards:  APTX  Malacards:  APTX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000012	single strand break repair	IBA	biological process
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006302	double-strand break repair	IBA	biological process
GO:0030983	mismatched DNA binding	IBA	molecular function
GO:0033699	DNA 5'-adenosine monophosphate hydrolase activity	IBA	molecular function
GO:1990165	single-strand break-containing DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IDA	colocalizes with
GO:0051219	phosphoprotein binding	IPI	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033699	DNA 5'-adenosine monophosphate hydrolase activity	IEA	molecular function
GO:0006266	DNA ligation	IEA	biological process
GO:0000012	single strand break repair	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0033699	DNA 5'-adenosine monophosphate hydrolase activity	IDA	molecular function
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0000785	chromatin	IDA	cellular component
GO:0000012	single strand break repair	IDA	biological process
GO:0042542	response to hydrogen peroxide	IDA	biological process
GO:0033699	DNA 5'-adenosine monophosphate hydrolase activity	IDA	molecular function
GO:0033699	DNA 5'-adenosine monophosphate hydrolase activity	IDA	molecular function
GO:0033699	DNA 5'-adenosine monophosphate hydrolase activity	IDA	molecular function
GO:0008967	phosphoglycolate phosphatase activity	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0031647	regulation of protein stability	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Coenzyme Q10 deficiency	KEGG:H00999
Ataxia with ocular apraxia	KEGG:H00848
Coenzyme Q10 deficiency	KEGG:H00999
Ataxia with ocular apraxia	KEGG:H00848
Ataxia with oculomotor apraxia type 1	PMID:12196655
Ataxia with oculomotor apraxia type 1	PMID:17572444
Ataxia with oculomotor apraxia type 1	PMID:21465257
Olivopontocerebellar atrophy	PMID:21465257
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray