Homo sapiens L. (human) [HSA]

FULL NAME: Fanconi anemia group C protein


DESCRIPTION:
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.

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


RELATED DISEASE(S):
Fanconi anemia, complementation group C (FANCC)


Amino acids sequence

        10         20         30         40         50         60
MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE ALKEMDSNTV
        70         80         90        100        110        120
IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK EPQNSGQSKL NSWIQGVLSH
       130        140        150        160        170        180
ILSALRFDKE VALFTQGLGY APIDYYPGLL KNMVLSLASE LRENHLNGFN TQRRMAPERV
       190        200        210        220        230        240
ASLSRVCVPL ITLTDVDPLV EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV
       250        260        270        280        290        300
CLWLRHLPSL EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC
       310        320        330        340        350        360
ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM VLLQDPQDIP
       370        380        390        400        410        420
RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF GGWAEMVAEQ LLMSAAEPPT
       430        440        450        460        470        480
ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR
       490        500        510        520        530        540
APAQQLIRHL LLNFLLWAPG GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES
       550
PRSEKLAREL LKELRTQV    

Encoded by FANCC gene

FULL NAME: Fanconi anemia, complementation group C


OTHER NAME(S):
FA3
FAC
FACC
FLJ14675


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 C. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggctcaag attcagtaga tctttcttgt gattatcagt tttggatgca gaagctttct
        70         80         90        100        110        120
gtatgggatc aggcttccac tttggaaacc cagcaagaca cctgtcttca cgtggctcag
       130        140        150        160        170        180
ttccaggagt tcctaaggaa gatgtatgaa gccttgaaag agatggattc taatacagtc
       190        200        210        220        230        240
attgaaagat tccccacaat tggtcaactg ttggcaaaag cttgttggaa tccttttatt
       250        260        270        280        290        300
ttagcatatg atgaaagcca aaaaattcta atatggtgct tatgttgtct aattaacaaa
       310        320        330        340        350        360
gaaccacaga attctggaca atcaaaactt aactcctgga tacagggtgt attatctcat
       370        380        390        400        410        420
atactttcag cactcagatt tgataaagaa gttgctcttt tcactcaagg tcttgggtat
       430        440        450        460        470        480
gcacctatag attactatcc tggtttgctt aaaaatatgg ttttatcatt agcgtctgaa
       490        500        510        520        530        540
ctcagagaga atcatcttaa tggatttaac actcaaaggc gaatggctcc cgagcgagtg
       550        560        570        580        590        600
gcgtccctgt cacgagtttg tgtcccactt attaccctga cagatgttga ccccctggtg
       610        620        630        640        650        660
gaggctctcc tcatctgtca tggacgtgaa cctcaggaaa tcctccagcc agagttcttt
       670        680        690        700        710        720
gaggctgtaa acgaggccat tttgctgaag aagatttctc tccccatgtc agctgtagtc
       730        740        750        760        770        780
tgcctctggc ttcggcacct tcccagcctt gaaaaagcaa tgctgcatct ttttgaaaag
       790        800        810        820        830        840
ctaatctcca gtgagagaaa ttgtctgaga aggatcgaat gctttataaa agattcatcg
       850        860        870        880        890        900
ctgcctcaag cagcctgcca ccctgccata ttccgggttg ttgatgagat gttcaggtgt
       910        920        930        940        950        960
gcactcctgg aaaccgatgg ggccctggaa atcatagcca ctattcaggt gtttacgcag
       970        980        990       1000       1010       1020
tgctttgtag aagctctgga gaaagcaagc aagcagctgc ggtttgcact caagacctac
      1030       1040       1050       1060       1070       1080
tttccttaca cttctccatc tcttgccatg gtgctgctgc aagaccctca agatatccct
      1090       1100       1110       1120       1130       1140
cggggacact ggctccagac actgaagcat atttctgaac tgctcagaga agcagttgaa
      1150       1160       1170       1180       1190       1200
gaccagactc atgggtcctg cggaggtccc tttgagagct ggttcctgtt cattcacttc
      1210       1220       1230       1240       1250       1260
ggaggatggg ctgagatggt ggcagagcaa ttactgatgt cggcagccga accccccacg
      1270       1280       1290       1300       1310       1320
gccctgctgt ggctcttggc cttctactac ggcccccgtg atgggaggca gcagagagca
      1330       1340       1350       1360       1370       1380
cagactatgg tccaggtgaa ggccgtgctg ggccacctcc tggcaatgtc cagaagcagc
      1390       1400       1410       1420       1430       1440
agcctctcag cccaggacct gcagacggta gcaggacagg gcacagacac agacctcaga
      1450       1460       1470       1480       1490       1500
gctcctgcac aacagctgat caggcacctt ctcctcaact tcctgctctg ggctcctgga
      1510       1520       1530       1540       1550       1560
ggccacacga tcgcctggga tgtcatcacc ctgatggctc acactgctga gataactcac
      1570       1580       1590       1600       1610       1620
gagatcattg gctttcttga ccagaccttg tacagatgga atcgtcttgg cattgaaagc
      1630       1640       1650       1660       1670
cctagatcag aaaaactggc ccgagagctc cttaaagagc tgcgaactca agtctag

Last modification date: Oct. 2, 2011