Homo sapiens L. (human) [HSA]

FULL NAME: Aprataxin


DESCRIPTION:
DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.

STRUCTURE SIMILARITY:
Contains 1 C2H2-type zinc finger.
Contains 1 HIT domain.
Contains 1 FHA-like domain.


PROTEIN TYPE(S):
DNase


RELATED DISEASE(S):
early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 (EAOH/AOA1)
coenzyme Q10 deficiency (COQ10D)


RELATED DAMAGE:
3'-P
3'-PUA termini
5'-AMP end


Amino acids sequence

        10         20         30         40         50         60
MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
        70         80         90        100        110        120
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN
       130        140        150        160        170        180
PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH
       190        200        210        220        230        240
WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH
       250        260        270        280        290        300
MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY
       310        320        330        340        350
FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL RKHWTQ

Encoded by APTX gene

FULL NAME: aprataxin


OTHER NAME(S):
AOA
AOA1
AXA1
EAOH
EOAHA
FHA-HIT
FLJ20157
MGC1072


DESCRIPTION:
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 have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]


Nucleic acid sequence

        10         20         30         40         50         60
atgagtaacg tgaatttgtc cgtctccgac ttctggagag tgatgatgcg ggtgtgctgg
        70         80         90        100        110        120
ttggtgagac aggacagccg gcaccagcga atcagacttc cacatttgga agcagttgtg
       130        140        150        160        170        180
attgggcgtg gcccagagac caagatcact gataagaaat gttctcgaca gcaagtacag
       190        200        210        220        230        240
ttgaaagcag agtgtaacaa gggatatgtc aaggtaaagc aggtaggagt caatcccacc
       250        260        270        280        290        300
agcattgact cagtcgtaat tgggaaggac caagaggtga agctgcagcc tggccaggtt
       310        320        330        340        350        360
ctccacatgg tgaatgaact ttatccatat attgtagagt ttgaggaaga ggcaaagaac
       370        380        390        400        410        420
cctggcctgg aaacacacag gaagagaaag agatcaggca acagtgattc tatagaaagg
       430        440        450        460        470        480
gatgctgctc aggaagctga ggctgggaca gggctggaac ctgggagcaa ctctggccaa
       490        500        510        520        530        540
tgctctgtgc ccctaaagaa gggaaaagat gcacctatca aaaaggaatc cctgggccac
       550        560        570        580        590        600
tggagtcaag gcttgaagat ttctatgcag gaccccaaaa tgcaggttta caaagatgag
       610        620        630        640        650        660
caggtggtgg tgataaagga taaataccca aaggcccgtt accattggct ggtcttaccg
       670        680        690        700        710        720
tggacctcca tttccagtct gaaggctgtg gccagggaac accttgaact ccttaagcat
       730        740        750        760        770        780
atgcacactg tgggggaaaa ggtgattgta gattttgctg ggtccagcaa actccgcttc
       790        800        810        820        830        840
cgattgggct accacgccat tccgagtatg agccatgtac atcttcatgt gatcagccag
       850        860        870        880        890        900
gattttgatt ctccttgcct taaaaacaaa aaacattgga attctttcaa tacagaatac
       910        920        930        940        950        960
ttcctagaat cacaagctgt gatcgagatg gtacaagagg ctggtagagt aactgtccga
       970        980        990       1000       1010       1020
gatgggatgc ctgagctctt gaagctgccc cttcgttgtc atgagtgcca gcagctgctg
      1030       1040       1050       1060       1070
ccttccattc ctcagctgaa agaacatctc aggaagcact ggacacagtg a

Last modification date: Oct. 2, 2011