KEGG   Homo sapiens (human): 54840
Entry
54840             CDS       T01001                                 
Symbol
APTX, AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
Name
(RefSeq) aprataxin
  KO
K10863  aprataxin [EC:3.6.1.70 3.6.1.71 3.6.1.72]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03410  Base excision repair
Network
nt06504  Base excision repair
  Element
N01437  Short patch BER
Disease
H00848  Ataxia with ocular apraxia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03410 Base excision repair
    54840 (APTX)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    54840 (APTX)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.1  In phosphorus-containing anhydrides
    3.6.1.70  guanosine-5'-diphospho-5'-[DNA] diphosphatase
     54840 (APTX)
    3.6.1.71  adenosine-5'-diphospho-5'-[DNA] diphosphatase
     54840 (APTX)
    3.6.1.72  DNA-3'-diphospho-5'-guanosine diphosphatase
     54840 (APTX)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   BER (base exicision repair)
    Other BER factors
     54840 (APTX)
  DSBR (double strand breaks repair)
   NHEJ (non-homologous end-joining)
    Other NHEJ factors
     54840 (APTX)
SSDB
Motif
Pfam: DcpS_C FHA_2 zf-C2HE HIT FHA FtsK_SpoIIIE_N
Other DBs
NCBI-GeneID: 54840
NCBI-ProteinID: NP_001182177
OMIM: 606350
HGNC: 15984
Ensembl: ENSG00000137074
UniProt: Q7Z2E3
Structure
Position
9:complement(32972616..33025120)
AA seq 342 aa
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQ
VGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGN
SDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKM
QVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEA
GRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ
NT seq 1029 nt   +upstreamnt  +downstreamnt
atgatgcgggtgtgctggttggtgagacaggacagccggcaccagcgaatcagacttcca
catttggaagcagttgtgattgggcgtggcccagagaccaagatcactgataagaaatgt
tctcgacagcaagtacagttgaaagcagagtgtaacaagggatatgtcaaggtaaagcag
gtaggagtcaatcccaccagcattgactcagtcgtaattgggaaggaccaagaggtgaag
ctgcagcctggccaggttctccacatggtgaatgaactttatccatatattgtagagttt
gaggaagaggcaaagaaccctggcctggaaacacacaggaagagaaagagatcaggcaac
agtgattctatagaaagggatgctgctcaggaagctgaggctgggacagggctggaacct
gggagcaactctggccaatgctctgtgcccctaaagaagggaaaagatgcacctatcaaa
aaggaatccctgggccactggagtcaaggcttgaagatttctatgcaggaccccaaaatg
caggtttacaaagatgagcaggtggtggtgataaaggataaatacccaaaggcccgttac
cattggctggtcttaccgtggacctccatttccagtctgaaggctgtggccagggaacac
cttgaactccttaagcatatgcacactgtgggggaaaaggtgattgtagattttgctggg
tccagcaaactccgcttccgattgggctaccacgccattccgagtatgagccatgtacat
cttcatgtgatcagccaggattttgattctccttgccttaaaaacaaaaaacattggaat
tctttcaatacagaatacttcctagaatcacaagctgtgatcgagatggtacaagaggct
ggtagagtaactgtccgagatgggatgcctgagctcttgaagctgccccttcgttgtcat
gagtgccagcagctgctgccttccattcctcagctgaaagaacatctcaggaagcactgg
acacagtga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (3)   
   KEGG ENZYME (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (25)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (23)   
DNA sequence (126)   
   RefSeq(nuc) (38)   
   GenBank (44)   
   EMBL (44)   
3D Structure (11)   
   PDB (11)   
Protein domain (6)   
   Pfam (6)   
All databases (194)   

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