Homo sapiens L. (human) [HSA]

FULL NAME: DNA repair protein complementing XP-A cells


DESCRIPTION:
Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.

STRUCTURE SIMILARITY:
Belongs to the XPA family.


POST-TRANSLATIONAL MODIFICATION:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Ubiquitinated by HERC2 leading to degradation by the proteasome.


RELATED PATHWAY(S):
nucleotide excision repair (NER)


RELATED DISEASE(S):
xeroderma pigmentosum, complementation group A (XPA)


Amino acids sequence

        10         20         30         40         50         60
MAAADGALPE AAALEQPAEL PASVRASIER KRQRALMLRQ ARLAARPYSA TAAAATGGMA
        70         80         90        100        110        120
NVKAAPKIID TGGGFILEEE EEEEQKIGKV VHQPGPVMEF DYVICEECGK EFMDSYLMNH
       130        140        150        160        170        180
FDLPTCDNCR DADDKHKLIT KTEAKQEYLL KDCDLEKREP PLKFIVKKNP HHSQWGDMKL
       190        200        210        220        230        240
YLKLQIVKRS LEVWGSQEAL EEAKEVRQEN REKMKQKKFD KKVKELRRAV RSSVWKRETI
       250        260        270
VHQHEYGPEE NLEDDMYRKT CTMCGHELTY EKM  

Encoded by XPA gene

FULL NAME: xeroderma pigmentosum, complementation group A


OTHER NAME(S):
XP1
XPAC


DESCRIPTION:
This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]


Nucleic acid sequence

        10         20         30         40         50         60
atggcggcgg ccgacggggc tttgccggag gcggcggctt tagagcaacc cgcggagctg
        70         80         90        100        110        120
cctgcctcgg tgcgggcgag tatcgagcgg aagcggcagc gggcactgat gctgcgccag
       130        140        150        160        170        180
gcccggctgg ctgcccggcc ctactcggcg acggcggctg cggctactgg aggcatggct
       190        200        210        220        230        240
aatgtaaaag cagccccaaa gataattgac acaggaggag gcttcatttt agaagaggaa
       250        260        270        280        290        300
gaagaagaag aacagaaaat tggaaaagtt gttcatcaac caggacctgt tatggaattt
       310        320        330        340        350        360
gattatgtaa tatgcgaaga atgtgggaaa gaatttatgg attcttatct tatgaaccac
       370        380        390        400        410        420
tttgatttgc caacttgtga taactgcaga gatgctgatg ataaacacaa gcttataacc
       430        440        450        460        470        480
aaaacagagg caaaacaaga atatcttctg aaagactgtg atttagaaaa aagagagcca
       490        500        510        520        530        540
cctcttaaat ttattgtgaa gaagaatcca catcattcac aatggggtga tatgaaactc
       550        560        570        580        590        600
tacttaaagt tacagattgt gaagaggtct cttgaagttt ggggtagtca agaagcatta
       610        620        630        640        650        660
gaagaagcaa aggaagtccg acaggaaaac cgagaaaaaa tgaaacagaa gaaatttgat
       670        680        690        700        710        720
aaaaaagtaa aagaattgcg gcgagcagta agaagcagcg tgtggaaaag ggagacgatt
       730        740        750        760        770        780
gttcatcaac atgagtatgg accagaagaa aacctagaag atgacatgta ccgtaagact
       790        800        810        820
tgtactatgt gtggccatga actgacatat gaaaaaatgt ga 

Last modification date: Oct. 2, 2011