Homo sapiens L. (human) [HSA]

FULL NAME: Fanconi anemia group I protein


DESCRIPTION:
Required for maintenance of chromosomal stability. Involved in the repair of DNA double-strand breaks by homologous recombination and in the repair of DNA cross-links. Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2 ubiquitination and recruitment to DNA repair sites.

POST-TRANSLATIONAL MODIFICATION:
Monoubiquitinated on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression.
Phosphorylated in response to DNA damage by ATM and/or ATR.


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


RELATED DISEASE(S):
Fanconi anemia, complementation group I (FANCI)


Amino acids sequence

        10         20         30         40         50         60
MDQKILSLAA EKTADKLQEF LQTLREGDLT NLLQNQAVKG KVAGALLRAI FKGSPCSEEA
        70         80         90        100        110        120
GTLRRRKIYT CCIQLVESGD LQKEIASEII GLLMLEAHHF PGPLLVELAN EFISAVREGS
       130        140        150        160        170        180
LVNGKSLELL PIILTALATK KENLAYGKGV LSGEECKKQL INTLCSGRWD QQYVIQLTSM
       190        200        210        220        230        240
FKDVPLTAEE VEFVVEKALS MFSKMNLQEI PPLVYQLLVL SSKGSRKSVL EGIIAFFSAL
       250        260        270        280        290        300
DKQHNEEQSG DELLDVVTVP SGELRHVEGT IILHIVFAIK LDYELGRELV KHLKVGQQGD
       310        320        330        340        350        360
SNNNLSPFSI ALLLSVTRIQ RFQDQVLDLL KTSVVKSFKD LQLLQGSKFL QNLVPHRSYV
       370        380        390        400        410        420
STMILEVVKN SVHSWDHVTQ GLVELGFILM DSYGPKKVLD GKTIETSPSL SRMPNQHACK
       430        440        450        460        470        480
LGANILLETF KIHEMIRQEI LEQVLNRVVT RASSPISHFL DLLSNIVMYA PLVLQSCSSK
       490        500        510        520        530        540
VTEAFDYLSF LPLQTVQRLL KAVQPLLKVS MSMRDCLILV LRKAMFANQL DARKSAVAGF
       550        560        570        580        590        600
LLLLKNFKVL GSLSSSQCSQ SLSVSQVHVD VHSHYNSVAN ETFCLEIMDS LRRCLSQQAD
       610        620        630        640        650        660
VRLMLYEGFY DVLRRNSQLA NSVMQTLLSQ LKQFYEPKPD LLPPLKLEAC ILTQGDKISL
       670        680        690        700        710        720
QEPLDYLLCC IQHCLAWYKN TVIPLQQGEE EEEEEEAFYE DLDDILESIT NRMIKSELED
       730        740        750        760        770        780
FELDKSADFS QSTSIGIKNN ICAFLVMGVC EVLIEYNFSI SSFSKNRFED ILSLFMCYKK
       790        800        810        820        830        840
LSDILNEKAG KAKTKMANKT SDSLLSMKFV SSLLTALFRD SIQSHQESLS VLRSSNEFMR
       850        860        870        880        890        900
YAVNVALQKV QQLKETGHVS GPDGQNPEKI FQNLCDITRV LLWRYTSIPT SVEESGKKEK
       910        920        930        940        950        960
GKSISLLCLE GLQKIFSAVQ QFYQPKIQQF LRALDVTDKE GEEREDADVS VTQRTAFQIR
       970        980        990       1000       1010       1020
QFQRSLLNLL SSQEEDFNSK EALLLVTVLT SLSKLLEPSS PQFVQMLSWT SKICKENSRE
      1030       1040       1050       1060       1070       1080
DALFCKSLMN LLFSLHVSYK SPVILLRDLS QDIHGHLGDI DQDVEVEKTN HFAIVNLRTA
      1090       1100       1110       1120       1130       1140
APTVCLLVLS QAEKVLEEVD WLITKLKGQV SQETLSEEAS SQATLPNQPV EKAIIMQLGT
      1150       1160       1170       1180       1190       1200
LLTFFHELVQ TALPSGSCVD TLLKDLCKMY TTLTALVRYY LQVCQSSGGI PKNMEKLVKL
      1210       1220       1230       1240       1250       1260
SGSHLTPLCY SFISYVQNKS KSLNYTGEKK EKPAAVATAM ARVLRETKPI PNLIFAIEQY
      1270       1280       1290       1300       1310       1320
EKFLIHLSKK SKVNLMQHMK LSTSRDFKIK GNILDMVLRE DGEDENEEGT ASEHGGQNKE

PAKKKRKK     

Encoded by FANCI gene

FULL NAME: Fanconi anemia, complementation group I


OTHER NAME(S):
FLJ10719
KIAA1794


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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggaccaga agattttatc tctagcagca gaaaaaacag cagacaaact gcaagaattt
        70         80         90        100        110        120
cttcaaaccc tgagagaagg tgatttgact aatctccttc agaatcaagc agtgaaagga
       130        140        150        160        170        180
aaagttgctg gagcactcct gagagccatc ttcaaaggtt ccccctgctc tgaggaagct
       190        200        210        220        230        240
ggaacactta ggagacgtaa gatatacact tgttgtatcc agttggtgga atcgggggat
       250        260        270        280        290        300
ttgcagaaag aaatagcgtc tgagatcata ggattactga tgctggaggc tcaccatttt
       310        320        330        340        350        360
ccaggaccat tattggttga attagccaat gagtttatta gtgctgtcag agaaggcagc
       370        380        390        400        410        420
ctagtgaatg gaaaatcttt ggagttacta cctatcattc tcactgccct ggctacgaaa
       430        440        450        460        470        480
aaggaaaatc tggcttatgg aaaaggtgta ctgagtgggg aagaatgtaa gaaacagttg
       490        500        510        520        530        540
attaacaccc tgtgttctgg caggtgggat cagcaatatg taatccaact cacctccatg
       550        560        570        580        590        600
ttcaaggatg tccctctgac tgcagaagag gtggaatttg tggtggaaaa agcattgagc
       610        620        630        640        650        660
atgttctcca agatgaatct tcaagaaata ccacctttgg tctatcagct tctggttctc
       670        680        690        700        710        720
tcctccaagg gaagcagaaa gagtgttttg gaaggaatca tagccttctt cagtgcacta
       730        740        750        760        770        780
gataagcagc acaatgagga acagagtggt gacgagctat tggatgttgt cactgtgcca
       790        800        810        820        830        840
tcaggtgaac ttcgtcatgt ggaaggcacc attattctac acattgtgtt tgccatcaaa
       850        860        870        880        890        900
ttggactatg aactaggcag agaactcgtg aaacacttaa aggtaggaca gcaaggagat
       910        920        930        940        950        960
tccaataata acttaagtcc cttcagcatt gctcttcttc tgtctgtaac aagaatacaa
       970        980        990       1000       1010       1020
agatttcagg accaggtgct tgatctttta aagacttcgg ttgtaaagag ctttaaggat
      1030       1040       1050       1060       1070       1080
cttcaactcc tccaaggctc aaaatttctt cagaatctag ttcctcatag atcttatgtt
      1090       1100       1110       1120       1130       1140
tcaaccatga tcttggaagt agtgaagaat agcgttcata gctgggacca tgttactcag
      1150       1160       1170       1180       1190       1200
ggcctcgtag aacttggttt cattttgatg gattcatatg ggccaaagaa ggttcttgat
      1210       1220       1230       1240       1250       1260
ggaaaaacta ttgaaaccag cccaagtctt tctagaatgc caaaccagca tgcatgtaag
      1270       1280       1290       1300       1310       1320
ctcggagcta atatcctgtt ggaaactttt aagatccatg agatgatcag acaagaaatt
      1330       1340       1350       1360       1370       1380
ttggagcagg tcctcaacag ggttgttacc agagcatctt ctcccatcag tcatttctta
      1390       1400       1410       1420       1430       1440
gacctgcttt caaatatcgt catgtatgca cccttagttc ttcaaagttg ttcttctaaa
      1450       1460       1470       1480       1490       1500
gtcacagaag cttttgacta tttgtccttt ctgccccttc agactgtaca aaggctgctt
      1510       1520       1530       1540       1550       1560
aaggcagtgc agccccttct caaagtcagc atgtcaatga gagactgctt gatacttgtc
      1570       1580       1590       1600       1610       1620
cttcggaaag ctatgtttgc caaccagctt gatgcccgaa aatctgcagt tgctgggttt
      1630       1640       1650       1660       1670       1680
ttgctgctcc tgaagaactt taaagtttta ggcagcctgt catcctctca gtgcagtcag
      1690       1700       1710       1720       1730       1740
tctctcagtg tcagtcaggt tcatgtggat gttcacagcc attacaattc tgtcgccaat
      1750       1760       1770       1780       1790       1800
gaaacttttt gccttgagat catggatagt ttgaggagat gcttaagcca gcaagctgat
      1810       1820       1830       1840       1850       1860
gttcgactca tgctttatga ggggttttat gatgttcttc gaaggaactc tcagctggct
      1870       1880       1890       1900       1910       1920
aattcagtca tgcaaactct gctctcacag ttaaaacagt tctatgagcc aaaacctgat
      1930       1940       1950       1960       1970       1980
ctgctgcctc ctctgaaatt agaagcttgt attctgaccc aaggagataa gatctctcta
      1990       2000       2010       2020       2030       2040
caagaaccac tggattatct gctgtgttgt attcagcatt gtttggcctg gtataagaat
      2050       2060       2070       2080       2090       2100
acagtcatac ccttacagca gggagaggag gaagaggagg aggaagaggc attctacgaa
      2110       2120       2130       2140       2150       2160
gacctagatg atatattgga gtccattact aatagaatga ttaagagtga gctggaagac
      2170       2180       2190       2200       2210       2220
tttgaactgg ataaatcagc agatttttct cagagcacca gtattggcat aaaaaataat
      2230       2240       2250       2260       2270       2280
atctgtgctt ttcttgtgat gggagtttgt gaggttttaa tagaatacaa tttctccata
      2290       2300       2310       2320       2330       2340
agtagtttca gtaagaatag gtttgaggac attctgagct tatttatgtg ttacaaaaaa
      2350       2360       2370       2380       2390       2400
ctctctgaca ttcttaatga aaaagcgggt aaagccaaaa ctaaaatggc caacaagaca
      2410       2420       2430       2440       2450       2460
agtgatagtc ttttgtccat gaaatttgtg tccagtcttc tcactgctct tttcagggat
      2470       2480       2490       2500       2510       2520
agtatccaaa gccaccaaga aagcctttct gttctcaggt ccagcaatga gtttatgcgc
      2530       2540       2550       2560       2570       2580
tatgcagtga atgtagctct gcagaaagta cagcagctaa aggaaacagg gcatgtgagt
      2590       2600       2610       2620       2630       2640
ggccctgatg gccaaaaccc agaaaagatc tttcagaacc tctgtgacat aactcgagtc
      2650       2660       2670       2680       2690       2700
ttgctatgga gatacacttc aattcctact tcagtggaag agtcgggaaa gaaagagaaa
      2710       2720       2730       2740       2750       2760
ggaaagagca tctcactgct gtgcttggag ggtttacaga aaatattcag tgctgtgcaa
      2770       2780       2790       2800       2810       2820
cagttctatc agcccaagat tcagcagttt ctcagagctc tggatgtcac agataaggaa
      2830       2840       2850       2860       2870       2880
ggagaagaga gagaagatgc agatgtcagt gtcactcaga gaacagcatt ccagatccgg
      2890       2900       2910       2920       2930       2940
caatttcaga ggtccttgtt gaatttactt agcagtcaag aggaagattt taatagcaaa
      2950       2960       2970       2980       2990       3000
gaagccctcc tgctagtcac ggttcttacc agtttgtcca agttactgga gccctcctct
      3010       3020       3030       3040       3050       3060
cctcagtttg tgcagatgtt atcctggaca tcaaagattt gcaaggaaaa cagccgggag
      3070       3080       3090       3100       3110       3120
gatgccttgt tttgcaagag cttgatgaac ttgctcttca gcctgcatgt ttcgtataag
      3130       3140       3150       3160       3170       3180
agtcctgtca ttctgctgcg tgacttgtcc caggatatcc acgggcatct gggagatata
      3190       3200       3210       3220       3230       3240
gaccaggatg tagaggtgga gaaaacaaac cactttgcaa tagtgaattt gagaacggct
      3250       3260       3270       3280       3290       3300
gcccccactg tctgtttact tgttctgagt caggccgaga aggttctaga agaagtggac
      3310       3320       3330       3340       3350       3360
tggctaatca ccaagcttaa gggacaagtg agccaagaaa ccttatcaga agaggcctct
      3370       3380       3390       3400       3410       3420
tctcaggcaa ccctaccaaa tcagcctgtt gagaaagcta tcatcatgca actgggaact
      3430       3440       3450       3460       3470       3480
ctgcttacat ttttccacga gctggtgcag acagctctgc catcaggcag ctgtgtggac
      3490       3500       3510       3520       3530       3540
accttgttaa aggacttgtg caaaatgtac accacactta cagcccttgt cagatattat
      3550       3560       3570       3580       3590       3600
ctccaggtgt gtcagagctc cggaggaatt ccaaaaaata tggaaaagct ggtgaagctg
      3610       3620       3630       3640       3650       3660
tctggttctc atctgacccc cctgtgttat tctttcattt cttacgtaca gaataagagt
      3670       3680       3690       3700       3710       3720
aagagcctga actatacggg agagaaaaag gagaaacctg ctgccgttgc cacagccatg
      3730       3740       3750       3760       3770       3780
gccagagttc ttcgggaaac caagccaatc cctaacctca tctttgccat agaacagtat
      3790       3800       3810       3820       3830       3840
gaaaaatttc tcatccacct ttctaagaag tccaaggtga acctgatgca gcacatgaag
      3850       3860       3870       3880       3890       3900
ctcagcacct cacgagactt caagatcaaa ggaaacatcc tagacatggt tcttcgagag
      3910       3920       3930       3940       3950       3960
gatggtgaag atgaaaatga agagggcact gcatcagagc atgggggaca gaacaaagaa
      3970       3980
ccagccaaga agaaaaggaa aaaataa   

Last modification date: Oct. 2, 2011