KEGG   Homo sapiens (human): 54840Help
Entry
54840             CDS       T01001                                 

Gene name
APTX, AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
Definition
aprataxin
Orthology
K10863  
aprataxin [EC:3.-.-.-]
Organism
hsa  Homo sapiens (human)
Disease
H00848  
Ataxia with ocular apraxia (AOA)
H00999  
Coenzyme Q10 deficiency
Class
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
9p13.3
AA seq 356 aa AA seqDB search
MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQ
LKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKN
PGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGH
WSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKH
MHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEY
FLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ
NT seq 1071 nt NT seq  +upstreamnt  +downstreamnt
atgagtaacgtgaatttgtccgtctccgacttctggagagtgatgatgcgggtgtgctgg
ttggtgagacaggacagccggcaccagcgaatcagacttccacatttggaagcagttgtg
attgggcgtggcccagagaccaagatcactgataagaaatgttctcgacagcaagtacag
ttgaaagcagagtgtaacaagggatatgtcaaggtaaagcaggtaggagtcaatcccacc
agcattgactcagtcgtaattgggaaggaccaagaggtgaagctgcagcctggccaggtt
ctccacatggtgaatgaactttatccatatattgtagagtttgaggaagaggcaaagaac
cctggcctggaaacacacaggaagagaaagagatcaggcaacagtgattctatagaaagg
gatgctgctcaggaagctgaggctgggacagggctggaacctgggagcaactctggccaa
tgctctgtgcccctaaagaagggaaaagatgcacctatcaaaaaggaatccctgggccac
tggagtcaaggcttgaagatttctatgcaggaccccaaaatgcaggtttacaaagatgag
caggtggtggtgataaaggataaatacccaaaggcccgttaccattggctggtcttaccg
tggacctccatttccagtctgaaggctgtggccagggaacaccttgaactccttaagcat
atgcacactgtgggggaaaaggtgattgtagattttgctgggtccagcaaactccgcttc
cgattgggctaccacgccattccgagtatgagccatgtacatcttcatgtgatcagccag
gattttgattctccttgccttaaaaacaaaaaacattggaattctttcaatacagaatac
ttcctagaatcacaagctgtgatcgagatggtacaagaggctggtagagtaactgtccga
gatgggatgcctgagctcttgaagctgccccttcgttgtcatgagtgccagcagctgctg
ccttccattcctcagctgaaagaacatctcaggaagcactggacacagtga

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