Homo sapiens L. (human) [HSA]

FULL NAME: Fanconi anemia group A protein


DESCRIPTION:
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.

POST-TRANSLATIONAL MODIFICATION:
Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H.


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


RELATED DISEASE(S):
Fanconi anemia, complementation group A (FANCA)


Amino acids sequence

        10         20         30         40         50         60
MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL
        70         80         90        100        110        120
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS
       130        140        150        160        170        180
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE
       190        200        210        220        230        240
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ
       250        260        270        280        290        300
MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG
       310        320        330        340        350        360
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR
       370        380        390        400        410        420
RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE
       430        440        450        460        470        480
SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL
       490        500        510        520        530        540
VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI
       550        560        570        580        590        600
TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR
       610        620        630        640        650        660
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL
       670        680        690        700        710        720
RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD
       730        740        750        760        770        780
LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH
       790        800        810        820        830        840
VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA
       850        860        870        880        890        900
ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS
       910        920        930        940        950        960
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH
       970        980        990       1000       1010       1020
EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR
      1030       1040       1050       1060       1070       1080
LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR
      1090       1100       1110       1120       1130       1140
ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN
      1150       1160       1170       1180       1190       1200
ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL
      1210       1220       1230       1240       1250       1260
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL
      1270       1280       1290       1300       1310       1320
FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL
      1330       1340       1350       1360       1370       1380
RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA
      1390       1400       1410       1420       1430       1440
GRSLELKGQG NPVELITKAR LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ
      1450
QAAPDADLSQ EPHLF    

Encoded by FANCA gene

FULL NAME: Fanconi anemia, complementation group A


OTHER NAME(S):
FA
FA-H
FA1
FAA
FACA
FAH
FANCH
MGC75158


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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgtccgact cgtgggtccc gaactccgcc tcgggccagg acccaggggg ccgccggagg
        70         80         90        100        110        120
gcctgggccg agctgctggc gggaagggtc aagagggaaa aatataatcc tgaaagggca
       130        140        150        160        170        180
cagaaattaa aggaatcagc tgtgcgcctc ctgcgaagcc atcaggacct gaatgccctt
       190        200        210        220        230        240
ttgcttgagg tagaaggtcc actgtgtaaa aaattgtctc tcagcaaagt gattgactgt
       250        260        270        280        290        300
gacagttctg aggcctatgc taatcattct agttcattta taggctctgc tttgcaggat
       310        320        330        340        350        360
caagcctcaa ggctgggggt tcccgtgggt attctctcag ccgggatggt tgcctctagc
       370        380        390        400        410        420
gtgggacaga tctgcacggc tccagcggag accagtcacc ctgtgctgct gactgtggag
       430        440        450        460        470        480
cagagaaaga agctgtcttc cctgttagag tttgctcagt atttattggc acacagtatg
       490        500        510        520        530        540
ttctcccgtc tttccttctg tcaagaatta tggaaaatac agagttcttt gttgcttgaa
       550        560        570        580        590        600
gcggtgtggc atcttcacgt acaaggcatt gtgagcctgc aagagctgct ggaaagccat
       610        620        630        640        650        660
cccgacatgc atgctgtggg atcgtggctc ttcaggaatc tgtgctgcct ttgtgaacag
       670        680        690        700        710        720
atggaagcat cctgccagca tgctgacgtc gccagggcca tgctttctga ttttgttcaa
       730        740        750        760        770        780
atgtttgttt tgaggggatt tcagaaaaac tcagatctga gaagaactgt ggagcctgaa
       790        800        810        820        830        840
aaaatgccgc aggtcacggt tgatgtactg cagagaatgc tgatttttgc acttgacgct
       850        860        870        880        890        900
ttggctgctg gagtacagga ggagtcctcc actcacaaga tcgtgaggtg ctggttcgga
       910        920        930        940        950        960
gtgttcagtg gacacacgct tggcagtgta atttccacag atcctctgaa gaggttcttc
       970        980        990       1000       1010       1020
agtcataccc tgactcagat actcactcac agccctgtgc tgaaagcatc tgatgctgtt
      1030       1040       1050       1060       1070       1080
cagatgcaga gagagtggag ctttgcgcgg acacaccctc tgctcacctc actgtaccgc
      1090       1100       1110       1120       1130       1140
aggctctttg tgatgctgag tgcagaggag ttggttggcc atttgcaaga agttctggaa
      1150       1160       1170       1180       1190       1200
acgcaggagg ttcactggca gagagtgctc tcctttgtgt ctgccctggt tgtctgcttt
      1210       1220       1230       1240       1250       1260
ccagaagcgc agcagctgct tgaagactgg gtggcgcgtt tgatggccca ggcattcgag
      1270       1280       1290       1300       1310       1320
agctgccagc tggacagcat ggtcactgcg ttcctggttg tgcgccaggc agcactggag
      1330       1340       1350       1360       1370       1380
ggcccctctg cgttcctgtc atatgcagac tggttcaagg cctcctttgg gagcacacga
      1390       1400       1410       1420       1430       1440
ggctaccatg gctgcagcaa gaaggccctg gtcttcctgt ttacgttctt gtcagaactc
      1450       1460       1470       1480       1490       1500
gtgccttttg agtctccccg gtacctgcag gtgcacattc tccacccacc cctggttccc
      1510       1520       1530       1540       1550       1560
ggcaagtacc gctccctcct cacagactac atctcattgg ccaagacacg gctggccgac
      1570       1580       1590       1600       1610       1620
ctcaaggttt ctatagaaaa catgggactc tacgaggatt tgtcatcagc tggggacatt
      1630       1640       1650       1660       1670       1680
actgagcccc acagccaagc tcttcaggat gttgaaaagg ccatcatggt gtttgagcat
      1690       1700       1710       1720       1730       1740
acggggaaca tcccagtcac cgtcatggag gccagcatat tcaggaggcc ttactacgtg
      1750       1760       1770       1780       1790       1800
tcccacttcc tccccgccct gctcacacct cgagtgctcc ccaaagtccc tgactcccgt
      1810       1820       1830       1840       1850       1860
gtggcgttta tagagtctct gaagagagca gataaaatcc ccccatctct gtactccacc
      1870       1880       1890       1900       1910       1920
tactgccagg cctgctctgc tgctgaagag aagccagaag atgcagccct gggagtgagg
      1930       1940       1950       1960       1970       1980
gcagaaccca actctgctga ggagcccctg ggacagctca cagctgcact gggagagctg
      1990       2000       2010       2020       2030       2040
agagcctcca tgacagaccc cagccagcgt gatgttatat cggcacaggt ggcagtgatt
      2050       2060       2070       2080       2090       2100
tctgaaagac tgagggctgt cctgggccac aatgaggatg acagcagcgt tgagatatca
      2110       2120       2130       2140       2150       2160
aagattcagc tcagcatcaa cacgccgaga ctggagccac gggaacacat ggctgtggac
      2170       2180       2190       2200       2210       2220
ctcctgctga cgtctttctg tcagaacctg atggctgcct ccagtgtcgc tcccccggag
      2230       2240       2250       2260       2270       2280
aggcagggtc cctgggctgc cctcttcgtg aggaccatgt gtggacgtgt gctccctgca
      2290       2300       2310       2320       2330       2340
gtgctcaccc ggctctgcca gctgctccgt caccagggcc cgagcctgag tgccccacat
      2350       2360       2370       2380       2390       2400
gtgctggggt tggctgccct ggccgtgcac ctgggtgagt ccaggtctgc gctcccagag
      2410       2420       2430       2440       2450       2460
gtggatgtgg gtcctcctgc acctggtgct ggccttcctg tccctgcgct ctttgacagc
      2470       2480       2490       2500       2510       2520
ctcctgacct gtaggacgag ggattccttg ttcttctgcc tgaaattttg tacagcagca
      2530       2540       2550       2560       2570       2580
atttcttact ctctctgcaa gttttcttcc cagtcacgag atactttgtg cagctgctta
      2590       2600       2610       2620       2630       2640
tctccaggcc ttattaaaaa gtttcagttc ctcatgttca gattgttctc agaggcccga
      2650       2660       2670       2680       2690       2700
cagcctcttt ctgaggagga cgtagccagc ctttcctgga gacccttgca ccttccttct
      2710       2720       2730       2740       2750       2760
gcagactggc agagagctgc cctctctctc tggacacaca gaaccttccg agaggtgttg
      2770       2780       2790       2800       2810       2820
aaagaggaag atgttcactt aacttaccaa gactggttac acctggagct ggaaattcaa
      2830       2840       2850       2860       2870       2880
cctgaagctg atgctctttc agatactgaa cggcaggact tccaccagtg ggcgatccat
      2890       2900       2910       2920       2930       2940
gagcactttc tccctgagtc ctcggcttca gggggctgtg acggagacct gcaggctgcg
      2950       2960       2970       2980       2990       3000
tgtaccattc ttgtcaacgc actgatggat ttccaccaaa gctcaaggag ttatgaccac
      3010       3020       3030       3040       3050       3060
tcagaaaatt ctgatttggt ctttggtggc cgcacaggaa atgaggatat tatttccaga
      3070       3080       3090       3100       3110       3120
ttgcaggaga tggtagctga cctggagctg cagcaagacc tcatagtgcc tctcggccac
      3130       3140       3150       3160       3170       3180
accccttccc aggagcactt cctctttgag attttccgca gacggctcca ggctctgaca
      3190       3200       3210       3220       3230       3240
agcgggtgga gcgtggctgc cagccttcag agacagaggg agctgctaat gtacaaacgg
      3250       3260       3270       3280       3290       3300
atcctcctcc gcctgccttc gtctgtcctc tgcggcagca gcttccaggc agaacagccc
      3310       3320       3330       3340       3350       3360
atcactgcca gatgcgagca gttcttccac ttggtcaact ctgagatgag aaacttctgc
      3370       3380       3390       3400       3410       3420
tcccacggag gtgccctgac acaggacatc actgcccact tcttcagggg cctcctgaac
      3430       3440       3450       3460       3470       3480
gcctgtctgc ggagcagaga cccctccctg atggtcgact tcatactggc caagtgccag
      3490       3500       3510       3520       3530       3540
acgaaatgcc ccttaatttt gacctctgct ctggtgtggt ggccgagcct ggagcctgtg
      3550       3560       3570       3580       3590       3600
ctgctctgcc ggtggaggag acactgccag agcccgctgc cccgggaact gcagaagcta
      3610       3620       3630       3640       3650       3660
caagaaggcc ggcagtttgc cagcgatttc ctctcccctg aggctgcctc cccagcaccc
      3670       3680       3690       3700       3710       3720
aacccggact ggctctcagc tgctgcactg cactttgcga ttcaacaagt cagggaagaa
      3730       3740       3750       3760       3770       3780
aacatcagga agcagctaaa gaagctggac tgcgagagag aggagctatt ggttttcctt
      3790       3800       3810       3820       3830       3840
ttcttcttct ccttgatggg cctgctgtcg tcacatctga cctcaaatag caccacagac
      3850       3860       3870       3880       3890       3900
ctgccaaagg ctttccacgt ttgtgcagca atcctcgagt gtttagagaa gaggaagata
      3910       3920       3930       3940       3950       3960
tcctggctgg cactctttca gttgacagag agtgacctca ggctggggcg gctcctcctc
      3970       3980       3990       4000       4010       4020
cgtgtggccc cggatcagca caccaggctg ctgcctttcg ctttttacag tcttctctcc
      4030       4040       4050       4060       4070       4080
tacttccatg aagacgcggc catcagggaa gaggccttcc tgcatgttgc tgtggacatg
      4090       4100       4110       4120       4130       4140
tacttgaagc tggtccagct cttcgtggct ggggatacaa gcacagtttc acctccagct
      4150       4160       4170       4180       4190       4200
ggcaggagcc tggagctcaa gggtcagggc aaccccgtgg aactgataac aaaagctcgt
      4210       4220       4230       4240       4250       4260
ctttttctgc tgcagttaat acctcggtgc ccgaaaaaga gcttctcaca cgtggcagag
      4270       4280       4290       4300       4310       4320
ctgctggctg atcgtgggga ctgcgaccca gaggtgagcg ccgccctcca gagcagacag
      4330       4340       4350       4360
caggctgccc ctgacgctga cctgtcccag gagcctcatc tcttctga 

Last modification date: Oct. 2, 2011