Homo sapiens L. (human) [HSA]

FULL NAME: Fanconi anemia group J protein


DESCRIPTION:
DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.

STRUCTURE SIMILARITY:
Belongs to the DEAD box helicase family. DEAH subfamily.
Contains 1 helicase ATP-binding domain.


CATALYTIC ACTIVITY:
ATP + H(2)O = ADP + phosphate.


POST-TRANSLATIONAL MODIFICATION:
Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.


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


RELATED DISEASE(S):
breast cancer (BC)
Fanconi anemia, complementation group J (FANCJ)


Amino acids sequence

        10         20         30         40         50         60
MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
        70         80         90        100        110        120
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
       130        140        150        160        170        180
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
       190        200        210        220        230        240
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
       250        260        270        280        290        300
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
       310        320        330        340        350        360
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
       370        380        390        400        410        420
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
       430        440        450        460        470        480
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
       490        500        510        520        530        540
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
       550        560        570        580        590        600
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
       610        620        630        640        650        660
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
       670        680        690        700        710        720
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
       730        740        750        760        770        780
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
       790        800        810        820        830        840
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
       850        860        870        880        890        900
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
       910        920        930        940        950        960
NIQDNESTLE VTSLKYSTPP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
       970        980        990       1000       1010       1020
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
      1030       1040       1050       1060       1070       1080
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
      1090       1100       1110       1120       1130       1140
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
      1150       1160       1170       1180       1190       1200
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
      1210       1220       1230       1240
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK 

Encoded by BRIP1 gene

FULL NAME: BRCA1 interacting protein C-terminal helicase 1


OTHER NAME(S):
BACH1
FANCJ
FLJ90232
MGC126521
MGC126523
OF


DESCRIPTION:
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgtcttcaa tgtggtctga atatacaatt ggtggggtga agatttactt tccttataaa
        70         80         90        100        110        120
gcttacccgt cacagcttgc tatgatgaat tctattctca gaggattaaa cagcaagcaa
       130        140        150        160        170        180
cattgtttgt tggagagtcc cacaggaagt ggaaaaagct tagccttact ttgttctgct
       190        200        210        220        230        240
ttagcatggc aacaatctct tagtgggaaa ccagcagatg agggcgtaag tgaaaaagct
       250        260        270        280        290        300
gaagtacaat tgtcatgttg ttgtgcatgc cattcaaagg attttacaaa caatgacatg
       310        320        330        340        350        360
aaccaaggaa cttcacgtca tttcaactat ccaagcacac caccttctga aagaaatggc
       370        380        390        400        410        420
acttcatcaa cttgtcaaga ctcccctgaa aaaaccactc tggctgcaaa gttatctgct
       430        440        450        460        470        480
aagaaacagg catccatata cagagatgaa aatgatgatt ttcaagtaga gaagaaaaga
       490        500        510        520        530        540
attcgaccct tagaaactac acagcagatt agaaaacgtc attgctttgg aacagaagta
       550        560        570        580        590        600
cacaatttgg atgcaaaagt tgattcagga aagactgtaa aactcaactc tccactggaa
       610        620        630        640        650        660
aagataaact ccttttcgcc acagaaaccc cctggccact gttctaggtg ctgttgttct
       670        680        690        700        710        720
actaaacaag gaaacagtca agagtcatcg aataccatta agaaggatca tacagggaaa
       730        740        750        760        770        780
tccaagatac ccaaaatata ttttgggaca cgcacacaca agcagattgc tcagattact
       790        800        810        820        830        840
agagagctcc ggaggacggc atattcaggg gttccaatga ctattctttc cagcagggat
       850        860        870        880        890        900
catacttgtg tccatcctga ggtagtcggt aacttcaaca gaaatgagaa gtgcatggaa
       910        920        930        940        950        960
ttgctagatg ggaaaaacgg aaaatcctgc tatttttatc atggagttca taaaattagt
       970        980        990       1000       1010       1020
gatcagcaca cattacagac tttccaaggg atgtgcaaag cctgggatat agaagaactt
      1030       1040       1050       1060       1070       1080
gtcagcctgg ggaagaaact aaaggcctgt ccatattaca cagcccgaga actaatacaa
      1090       1100       1110       1120       1130       1140
gatgctgaca tcatattttg tccctacaac tatcttctag atgcacaaat aagggaaagt
      1150       1160       1170       1180       1190       1200
atggatttaa atctgaaaga acaggttgtc attttagatg aagctcataa catcgaggac
      1210       1220       1230       1240       1250       1260
tgtgctcggg aatcagcaag ttacagtgta acagaagttc agcttcggtt tgctcgggat
      1270       1280       1290       1300       1310       1320
gaactagata gtatggtcaa caataatata aggaagaaag atcatgaacc cctacgagct
      1330       1340       1350       1360       1370       1380
gtgtgctgta gcctcattaa ttggttagaa gcaaacgctg aatatcttgt agaaagagat
      1390       1400       1410       1420       1430       1440
tatgaatcag cttgtaaaat atggagtgga aatgaaatgc tcttaacttt acacaaaatg
      1450       1460       1470       1480       1490       1500
ggtatcacca ctgctacttt tcccattttg cagggacatt tttctgctgt tcttcaaaaa
      1510       1520       1530       1540       1550       1560
gaggaaaaaa tctcaccaat ttatggtaaa gaggaggcaa gagaagtacc tgttattagt
      1570       1580       1590       1600       1610       1620
gcatcaactc aaataatgct taaaggactt tttatggtac ttgactatct ttttaggcaa
      1630       1640       1650       1660       1670       1680
aatagcagat ttgcagatga ttataaaatt gcgattcaac agacttactc ctggacaaat
      1690       1700       1710       1720       1730       1740
cagattgata tttcagacaa aaatgggttg ttggttctac caaaaaataa gaaacgttca
      1750       1760       1770       1780       1790       1800
cgacagaaaa ctgcagttca tgtgctaaac ttttggtgct taaatccagc tgtggccttt
      1810       1820       1830       1840       1850       1860
tcagatatta atggcaaagt tcagaccatt gttttgacat ctggtacatt atcaccaatg
      1870       1880       1890       1900       1910       1920
aaatcctttt cgtcagaact tggtgttaca tttactatcc agctggaggc taatcatatc
      1930       1940       1950       1960       1970       1980
attaaaaatt cacaggtttg ggttggtacc attgggtcag gccccaaggg tcggaatctc
      1990       2000       2010       2020       2030       2040
tgtgctacct tccagaatac tgaaacattt gagttccaag atgaagtggg agcacttttg
      2050       2060       2070       2080       2090       2100
ttatctgtgt gccagactgt gagccaagga attttgtgtt tcttgccatc ttacaagtta
      2110       2120       2130       2140       2150       2160
ttagaaaaat taaaagaacg ttggctctct actggtttat ggcataatct ggagttggtg
      2170       2180       2190       2200       2210       2220
aagacagtca ttgtagaacc acagggagga gaaaaaacaa attttgatga attactgcag
      2230       2240       2250       2260       2270       2280
gtgtactatg acgcaatcaa atacaaagga gagaaagatg gagctctcct ggtagcagtt
      2290       2300       2310       2320       2330       2340
tgtcgtggta aagtgagtga gggtctggat ttctcagatg acaatgcccg tgctgtcata
      2350       2360       2370       2380       2390       2400
acaataggaa ttccttttcc aaatgtgaaa gatctacagg ttgaactaaa acgacaatac
      2410       2420       2430       2440       2450       2460
aatgaccacc attcaaaatt gagaggtctt ctacctggcc gtcagtggta tgaaattcaa
      2470       2480       2490       2500       2510       2520
gcatacaggg ccttaaacca ggcccttggt agatgtatta gacacagaaa tgattgggga
      2530       2540       2550       2560       2570       2580
gctcttattc tagtggatga tcgctttagg aataacccaa gtcgctatat atctggactt
      2590       2600       2610       2620       2630       2640
tctaaatggg tacggcagca gattcagcac cattcaacct ttgaaagtgc actggaatcc
      2650       2660       2670       2680       2690       2700
ttggctgaat tttccaaaaa gcatcaaaaa gttcttaatg tatccataaa ggacagaacc
      2710       2720       2730       2740       2750       2760
aatatacagg acaatgagtc tacacttgaa gtgacctctt taaagtacag tacctcacct
      2770       2780       2790       2800       2810       2820
tatttactgg aagcagcaag tcatctatca ccagaaaatt ttgtggaaga tgaagcaaag
      2830       2840       2850       2860       2870       2880
atatgtgtcc aggaactaca gtgtcctaaa attattacca aaaattcacc tctaccaagt
      2890       2900       2910       2920       2930       2940
agcattatct ccagaaagga gaaaaatgat ccagtattcc tggaagaagc agggaaagca
      2950       2960       2970       2980       2990       3000
gaaaaaattg tgatttccag atccacaagc ccaactttca acaaacaaac aaagagagtt
      3010       3020       3030       3040       3050       3060
agctggtcaa gctttaattc tttgggacag tattttactg gtaaaatacc gaaggcaaca
      3070       3080       3090       3100       3110       3120
cctgagctcg ggtcatcaga gaatagtgcc tctagtcctc cccgtttcaa aacagagaag
      3130       3140       3150       3160       3170       3180
atggaaagta aaactgtttt gcccttcact gataaatgtg aatcctcaaa tctgacagta
      3190       3200       3210       3220       3230       3240
aacacatcgt ttggatcatg ccctcaatca gaaaccatta tttcatcatt aaagattgat
      3250       3260       3270       3280       3290       3300
gccaccctta ctagaaaaaa tcattctgaa catccgctct gttctgaaga agccctggat
      3310       3320       3330       3340       3350       3360
ccagacattg aattgtctct agtaagtgaa gaagataaac agtccacttc aaatagagat
      3370       3380       3390       3400       3410       3420
tttgaaacag aagcagaaga tgaatctatc tattttacac ctgaacttta tgatcctgaa
      3430       3440       3450       3460       3470       3480
gatacagatg aagaaaaaaa tgacctagct gaaactgata gaggaaatag attggctaac
      3490       3500       3510       3520       3530       3540
aattcagatt gcattttagc taaagacctt tttgaaatta gaactataaa agaagtagat
      3550       3560       3570       3580       3590       3600
tcagccagag aagtgaaagc tgaggattgc atagatacaa agttgaatgg aattctgcat
      3610       3620       3630       3640       3650       3660
attgaagaaa gtaaaattga tgacattgat ggtaatgtaa aaacaacttg gataaatgaa
      3670       3680       3690       3700       3710       3720
ctggaactgg gaaaaactca tgaaatagaa ataaagaact ttaaaccatc tccttccaaa
      3730       3740       3750
aataaaggca tgtttcctgg ttttaagtaa   

Last modification date: Oct. 2, 2011