Homo sapiens L. (human) [HSA]

FULL NAME: E3 ubiquitin-protein ligase FANCL


DESCRIPTION:
Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNA damage pathway. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.

STRUCTURE SIMILARITY:
Contains 1 RING-type zinc finger.


RELATED PATHWAY(S):
Fanconi anemia (FA) pathway


RELATED DISEASE(S):
Fanconi anemia, complementation group L (FANCL)


Amino acids sequence

        10         20         30         40         50         60
MAVTEASLLR QCPLLLPQNR SKTVYEGFIS AQGRDFHLRI VLPEDLQLKN ARLLCSWQLR
        70         80         90        100        110        120
TILSGYHRIV QQRMQHSPDL MSFMMELKML LEVALKNRQE LYALPPPPQF YSSLIEEIGT
       130        140        150        160        170        180
LGWDKLVYAD TCFSTIKLKA EDASGREHLI TLKLKAKYPA ESPDYFVDFP VPFCASWTPQ
       190        200        210        220        230        240
SSLISIYSQF LAAIESLKAF WDVMDEIDEK TWVLEPEKPP RSATARRIAL GNNVSINIEV
       250        260        270        280        290        300
DPRHPTMLPE CFFLGADHVV KPLGIKLSRN IHLWDPENSV LQNLKDVLEI DFPARAILEK
       310        320        330        340        350        360
SDFTMDCGIC YAYQLDGTIP DQVCDNSQCG QPFHQICLYE WLRGLLTSRQ SFNIIFGECP
       370
YCSKPITLKM SGRKH    

Encoded by FANCL gene

FULL NAME: Fanconi anemia, complementation group L


OTHER NAME(S):
FAAP43
FLJ10335
PHF9
POG


DESCRIPTION:
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggcggtga cggaagcgag cctgttgcgc cagtgccccc tgcttctgcc ccagaaccgg
        70         80         90        100        110        120
tcgaaaaccg tgtatgaggg attcatctcg gctcagggaa gagacttcca ccttaggata
       130        140        150        160        170        180
gtgttgcctg aagatttaca actgaagaat gcaagattat tatgtagttg gcagctgaga
       190        200        210        220        230        240
acaatactta gtggatacca tcgaatagta caacagagaa tgcagcactc tcctgatcta
       250        260        270        280        290        300
atgagcttta tgatggagtt gaagatgctt ttggaagttg ccttaaagaa tagacaagag
       310        320        330        340        350        360
ctgtatgcac tacctcctcc tccccagttc tactcaagcc ttattgaaga gataggaact
       370        380        390        400        410        420
cttggttggg ataaacttgt gtatgcggat acctgcttca gtaccatcaa gttaaaagca
       430        440        450        460        470        480
gaagatgctt ctggtagaga gcatttaatc actctcaagt tgaaggcaaa gtatcctgca
       490        500        510        520        530        540
gaatcaccag attattttgt ggattttcct gttccatttt gtgcctcctg gacacctcag
       550        560        570        580        590        600
gtaaattctc ctcagagctc cttaataagc atttatagtc agtttttggc agcaatagaa
       610        620        630        640        650        660
tcactaaagg cattctggga tgttatggat gaaatcgatg agaagacctg ggtacttgag
       670        680        690        700        710        720
ccagaaaaac ctccacggag tgcaacagca cgcagaattg cattaggtaa taatgtttcc
       730        740        750        760        770        780
ataaatatag aggtagaccc caggcatcct actatgcttc ctgagtgctt ctttcttgga
       790        800        810        820        830        840
gctgaccatg tggtaaaacc cctgggaatt aagctgagca ggaacataca tttgtgggat
       850        860        870        880        890        900
ccagaaaata gtgtgttaca aaatttgaaa gatgttttag aaattgattt tccagctcgt
       910        920        930        940        950        960
gctatcctgg aaaaatctga ttttactatg gattgtggaa tttgttatgc ttatcaactt
       970        980        990       1000       1010       1020
gacggtacca ttcctgatca agtgtgtgat aattctcagt gtggacaacc tttccatcaa
      1030       1040       1050       1060       1070       1080
atatgcttat atgagtggct gagaggacta ctaactagta gacagagttt taacatcata
      1090       1100       1110       1120       1130       1140
tttggtgaat gtccatattg tagtaagcca attaccttaa aaatgtctgg aaggaaacac

tga     

Last modification date: Oct. 2, 2011