Homo sapiens L. (human) [HSA]

FULL NAME: Non-homologous end-joining factor 1


DESCRIPTION:
DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary.

MISCELLANEOUS:
Was named 'Cernunnos' after the enigmatic Celtic god of hunting, the underworld and fertility.


STRUCTURE SIMILARITY:
Belongs to the XLF family.


SUBUNIT STRUCTURE:
Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner.


RELATED PATHWAY(S):
non-homologous end-joining (NHEJ)


RELATED DISEASE(S):
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (SCID)


Amino acids sequence

        10         20         30         40         50         60
MEELEQGLLM QPWAWLQLAE NSLLAKVFIT KQGYALLVSD LQQVWHEQVD TSVVSQRAKE
        70         80         90        100        110        120
LNKRLTAPPA AFLCHLDNLL RPLLKDAAHP SEATFSCDCV ADALILRVRS ELSGLPFYWN
       130        140        150        160        170        180
FHCMLASPSL VSQHLIRPLM GMSLALQCQV RELATLLHMK DLEIQDYQES GATLIRDRLK
       190        200        210        220        230        240
TEPFEENSFL EQFMIEKLPE ACSIGDGKPF VMNLQDLYMA VTTQEVQVGQ KHQGAGDPHT
       250        260        270        280        290
SNSASLQGID SQCVNQPEQL VSSAPTLSAP EKESTGTSGP LQRPQLSKVK RKKPRGLFS

Encoded by NHEJ1 gene

FULL NAME: nonhomologous end-joining factor 1


OTHER NAME(S):
FLJ12610
XLF


DESCRIPTION:
Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggaagaac tggagcaagg cctgttgatg cagccatggg cgtggctaca gcttgcagag
        70         80         90        100        110        120
aactccctct tggccaaggt ttttatcacc aagcagggct atgccttgtt ggtttcagat
       130        140        150        160        170        180
cttcaacagg tgtggcatga acaggtggac actagtgtgg tcagccagcg agccaaggag
       190        200        210        220        230        240
ctgaacaagc ggctcactgc tcctcctgca gctttcctct gtcatttgga taatctcctt
       250        260        270        280        290        300
cgcccattgt tgaaggacgc tgctcaccct agcgaagcta ccttctcctg tgattgtgtg
       310        320        330        340        350        360
gcagatgcac tgattctacg ggtgcgaagt gagctctctg gcctcccctt ctattggaat
       370        380        390        400        410        420
ttccactgca tgctagctag tccttccctg gtctcccaac atttgattcg tcctctgatg
       430        440        450        460        470        480
ggcatgagtc tggcattaca gtgccaagtg agggagctag caacgttact tcatatgaaa
       490        500        510        520        530        540
gacctagaga tccaagacta ccaggagagt ggggctacgc tgattcgaga tcgattgaag
       550        560        570        580        590        600
acagaaccat ttgaagaaaa ttccttcttg gaacaattta tgatagagaa actgccagag
       610        620        630        640        650        660
gcatgcagca ttggtgatgg aaagcccttt gtcatgaatc tgcaggatct gtatatggca
       670        680        690        700        710        720
gtcaccacac aagaggtcca agtgggacag aagcatcaag gcgctggaga tcctcatacc
       730        740        750        760        770        780
tcaaacagtg cttccctgca aggaatcgat agccaatgtg taaaccagcc agaacaactg
       790        800        810        820        830        840
gtctcctcag ccccaaccct ctcagcacct gagaaagagt ccacgggtac ttcaggccct
       850        860        870        880        890        900
ctgcagagac ctcagctgtc aaaggtcaag aggaagaagc caaggggtct cttcagttaa

Last modification date: Feb. 6, 2012