KEGG   Homo sapiens (human): 54840
Entry
54840             CDS       T01001                                 
Symbol
APTX, AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
Name
(RefSeq) aprataxin isoform a
  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 DUF7407
Other DBs
NCBI-GeneID: 54840
NCBI-ProteinID: NP_001182177
OMIM: 606350
HGNC: 15984
Ensembl: ENSP00000369145.2
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  
Disease (3)   
   OMIM (3)   
Gene (12)   
   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 (7)   
   Pfam (7)   
All databases (184)   

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