Homo sapiens L. (human) [HSA]

FULL NAME: Fanconi anemia group E protein


DESCRIPTION:
Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.

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


RELATED DISEASE(S):
Fanconi anemia, complementation group E (FANCE)


Amino acids sequence

        10         20         30         40         50         60
MATPDAGLPG AEGVEPAPWA QLEAPARLLL QALQAGPEGA RRGLGVLRAL GSRGWEPFDW
        70         80         90        100        110        120
GRLLEALCRE EPVVQGPDGR LELKPLLLRL PRICQRNLMS LLMAVRPSLP ESGLLSVLQI
       130        140        150        160        170        180
AQQDLAPDPD AWLRALGELL RRDLGVGTSM EGASPLSERC QRQLQSLCRG LGLGGRRLKS
       190        200        210        220        230        240
PQAPDPEEEE NRDSQQPGKR RKDSEEEAAS PEGKRVPKRL RCWEEEEDHE KERPEHKSLE
       250        260        270        280        290        300
SLADGGSASP IKDQPVMAVK TGEDGSNLDD AKGLAESLEL PKAIQDQLPR LQQLLKTLEE
       310        320        330        340        350        360
GLEGLEDAPP VELQLLHECS PSQMDLLCAQ LQLPQLSDLG LLRLCTWLLA LSPDLSLSNA
       370        380        390        400        410        420
TVLTRSLFLG RILSLTSSAS RLLTTALTSF CAKYTYPVCS ALLDPVLQAP GTGPAQTELL
       430        440        450        460        470        480
CCLVKMESLE PDAQVLMLGQ ILELPWKEET FLVLQSLLER QVEMTPEKFS VLMEKLCKKG
       490        500        510        520        530
LAATTSMAYA KLMLTVMTKY QANITETQRL GLAMALEPNT TFLRKSLKAA LKHLGP

Encoded by FANCE gene

FULL NAME: Fanconi anemia, complementation group E


OTHER NAME(S):
FACE
FAE


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 E. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggcgacac cggacgcggg gctccctggg gctgagggcg tggagccggc gccctgggcg
        70         80         90        100        110        120
cagctggagg cccccgcccg cctcctgctg caggcgctgc aggcggggcc tgagggggcg
       130        140        150        160        170        180
cggcgcggcc tgggggtgct ccgggcgctg ggcagccgcg gctgggagcc cttcgactgg
       190        200        210        220        230        240
ggtcgcttgc tcgaggccct gtgccgggag gagccggtcg tgcaggggcc tgacggccgt
       250        260        270        280        290        300
ctggagctga aaccactgtt gctgcgattg ccccggatat gccagaggaa cctgatgtcc
       310        320        330        340        350        360
ctgctgatgg ccgttcggcc atcgctgccg gaaagtgggc tcctctctgt gctgcagatt
       370        380        390        400        410        420
gcccagcagg acctagcccc tgacccagat gcctggctcc gtgccctggg ggaattgctg
       430        440        450        460        470        480
cgaagggatt tgggggtggg gacctccatg gagggagctt ctccactgtc tgaaagatgc
       490        500        510        520        530        540
cagagacagc tccaaagtct atgtaggggg ctgggcctgg ggggcaggag gttgaaatcc
       550        560        570        580        590        600
ccccaggctc cagaccctga agaagaggag aacagggact cccagcagcc tgggaaacgc
       610        620        630        640        650        660
agaaaggact cagaggaaga ggctgccagt cctgagggga agagggtccc caaaagatta
       670        680        690        700        710        720
cggtgttggg aagaggaaga agatcatgag aaggagagac ccgaacataa gtcactggaa
       730        740        750        760        770        780
tccctggcag atggaggaag tgcatctcct attaaggacc agcctgtcat ggcagttaag
       790        800        810        820        830        840
actggcgagg acggttcgaa tctggatgat gctaaaggtc tggctgagag tttggagttg
       850        860        870        880        890        900
cccaaagcta tccaggacca gcttcccagg ctgcagcagc tgctgaagac cttggaggag
       910        920        930        940        950        960
gggttagagg gattggagga tgccccccca gttgagctac agcttcttca cgaatgtagt
       970        980        990       1000       1010       1020
cccagccaga tggacttgct gtgtgcccag ctgcagctcc ctcagctctc agacctcggt
      1030       1040       1050       1060       1070       1080
ctcctgcggc tctgcacctg gctgctggcc ctttcacctg atctcagcct cagcaatgct
      1090       1100       1110       1120       1130       1140
actgtgctga ccagaagcct ctttcttgga cggatcctct ccttgacttc ctcagcctcc
      1150       1160       1170       1180       1190       1200
cgcctgctta caactgccct gacctccttc tgtgccaaat atacataccc tgtctgcagc
      1210       1220       1230       1240       1250       1260
gccctccttg accctgtgct ccaggcccca ggcacaggtc ctgctcaaac agagttactg
      1270       1280       1290       1300       1310       1320
tgttgccttg tgaagatgga gtccctggag ccagatgcac aggttctaat gctgggacag
      1330       1340       1350       1360       1370       1380
atcttggagc tgccctggaa ggaggaaact ttcttggtgt tgcagtcact cctagagcgg
      1390       1400       1410       1420       1430       1440
caggtggaga tgacccctga gaagttcagt gtcttaatgg agaagctctg taaaaagggg
      1450       1460       1470       1480       1490       1500
ctggcagcca ccacctccat ggcctatgcc aagctcatgc tgacagtgat gaccaagtat
      1510       1520       1530       1540       1550       1560
caggctaaca tcactgagac ccagaggctg ggcctggcta tggccctaga acctaacacc
      1570       1580       1590       1600       1610
accttcctga ggaagtccct gaaggccgcc ttgaaacatt tgggcccctg a

Last modification date: Oct. 2, 2011