Homo sapiens L. (human) [HSA]

FULL NAME: Bloom syndrome protein


DESCRIPTION:
Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction.

STRUCTURE SIMILARITY:
Contains 1 helicase C-terminal domain.
Contains 1 HRDC domain.
Contains 1 helicase ATP-binding domain.
Belongs to the helicase family. RecQ subfamily.


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


POST-TRANSLATIONAL MODIFICATION:
Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1.


PROTEIN TYPE(S):
3'-5' DNA helicase


RELATED PATHWAY(S):
Fanconi anemia (FA) pathway
homologous recombination (HR)


RELATED DISEASE(S):
Bloom syndrome


Amino acids sequence

        10         20         30         40         50         60
MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL
        70         80         90        100        110        120
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC
       130        140        150        160        170        180
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV
       190        200        210        220        230        240
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD
       250        260        270        280        290        300
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF
       310        320        330        340        350        360
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD
       370        380        390        400        410        420
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD
       430        440        450        460        470        480
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS
       490        500        510        520        530        540
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI
       550        560        570        580        590        600
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL
       610        620        630        640        650        660
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH
       670        680        690        700        710        720
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI
       730        740        750        760        770        780
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL
       790        800        810        820        830        840
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD
       850        860        870        880        890        900
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE
       910        920        930        940        950        960
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF
       970        980        990       1000       1010       1020
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF
      1030       1040       1050       1060       1070       1080
NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD
      1090       1100       1110       1120       1130       1140
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLG SKSAKIQSGI FGKGSAYSRH
      1150       1160       1170       1180       1190       1200
NAERLFKKLI LDKILDEDLY INANDQAIAY VMLGNKAQTV LNGNLKVDFM ETENSSSVKK
      1210       1220       1230       1240       1250       1260
QKALVAKVSQ REEMVKKCLG ELTEVCKSLG KVFGVHYFNI FNTVTLKKLA ESLSSDPEVL
      1270       1280       1290       1300       1310       1320
LQIDGVTEDK LEKYGAEVIS VLQKYSEWTS PAEDSSPGIS LSSSRGPGRS AAEELDEEIP
      1330       1340       1350       1360       1370       1380
VSSHYFASKT RNERKRKKMP ASQRSKRRKT ASSGSKAKGG SATCRKISSK TKSSSIIGSS
      1390       1400       1410
SASHTSQATS GANSKLGIMA PPKPINRPFL KPSYAFS  

Encoded by BLM gene

FULL NAME: Bloom syndrome, RecQ helicase-like


OTHER NAME(S):
BS
MGC126616
MGC131618
MGC131620
RECQ2
RECQL2
RECQL3


DESCRIPTION:
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggctgctg ttcctcaaaa taatctacag gagcaactag aacgtcactc agccagaaca
        70         80         90        100        110        120
cttaataata aattaagtct ttcaaaacca aaattttcag gtttcacttt taaaaagaaa
       130        140        150        160        170        180
acatcttcag ataacaatgt atctgtaact aatgtgtcag tagcaaaaac acctgtatta
       190        200        210        220        230        240
agaaataaag atgttaatgt taccgaagac ttttccttca gtgaacctct acccaacacc
       250        260        270        280        290        300
acaaatcagc aaagggtcaa ggacttcttt aaaaatgctc cagcaggaca ggaaacacag
       310        320        330        340        350        360
agaggtggat caaaatcatt attgccagat ttcttgcaga ctccgaagga agttgtatgc
       370        380        390        400        410        420
actacccaaa acacaccaac tgtaaagaaa tcccgggata ctgctctcaa gaaattagaa
       430        440        450        460        470        480
tttagttctt caccagattc tttaagtacc atcaatgatt gggatgatat ggatgacttt
       490        500        510        520        530        540
gatacttctg agacttcaaa atcatttgtt acaccacccc aaagtcactt tgtaagagta
       550        560        570        580        590        600
agcactgctc agaaatcaaa aaagggtaag agaaactttt ttaaagcaca gctttataca
       610        620        630        640        650        660
acaaacacag taaagactga tttgcctcca ccctcctctg aaagcgagca aatagatttg
       670        680        690        700        710        720
actgaggaac agaaggatga ctcagaatgg ttaagcagcg atgtgatttg catcgatgat
       730        740        750        760        770        780
ggccccattg ctgaagtgca tataaatgaa gatgctcagg aaagtgactc tctgaaaact
       790        800        810        820        830        840
catttggaag atgaaagaga taatagcgaa aagaagaaga atttggaaga agctgaatta
       850        860        870        880        890        900
cattcaactg agaaagttcc atgtattgaa tttgatgatg atgattatga tacggatttt
       910        920        930        940        950        960
gttccacctt ctccagaaga aattatttct gcttcttctt cctcttcaaa atgccttagt
       970        980        990       1000       1010       1020
acgttaaagg accttgacac ctctgacaga aaagaggatg ttcttagcac atcaaaagat
      1030       1040       1050       1060       1070       1080
cttttgtcaa aacctgagaa aatgagtatg caggagctga atccagaaac cagcacagac
      1090       1100       1110       1120       1130       1140
tgtgacgcta gacagataag tttacagcag cagcttattc atgtgatgga gcacatctgt
      1150       1160       1170       1180       1190       1200
aaattaattg atactattcc tgatgataaa ctgaaacttt tggattgtgg gaacgaactg
      1210       1220       1230       1240       1250       1260
cttcagcagc ggaacataag aaggaaactt ctaacggaag tagattttaa taaaagtgat
      1270       1280       1290       1300       1310       1320
gccagtcttc ttggctcatt gtggagatac aggcctgatt cacttgatgg ccctatggag
      1330       1340       1350       1360       1370       1380
ggtgattcct gccctacagg gaattctatg aaggagttaa atttttcaca ccttccctca
      1390       1400       1410       1420       1430       1440
aattctgttt ctcctgggga ctgtttactg actaccaccc taggaaagac aggattctct
      1450       1460       1470       1480       1490       1500
gccaccagga agaatctttt tgaaaggcct ttattcaata cccatttaca gaagtccttt
      1510       1520       1530       1540       1550       1560
gtaagtagca actgggctga aacaccaaga ctaggaaaaa aaaatgaaag ctcttatttc
      1570       1580       1590       1600       1610       1620
ccaggaaatg ttctcacaag cactgctgtg aaagatcaga ataaacatac tgcttcaata
      1630       1640       1650       1660       1670       1680
aatgacttag aaagagaaac ccaaccttcc tatgatattg ataattttga catagatgac
      1690       1700       1710       1720       1730       1740
tttgatgatg atgatgactg ggaagacata atgcataatt tagcagccag caaatcttcc
      1750       1760       1770       1780       1790       1800
acagctgcct atcaacccat caaggaaggt cggccaatta aatcagtatc agaaagactt
      1810       1820       1830       1840       1850       1860
tcctcagcca agacagactg tcttccagtg tcatctactg ctcaaaatat aaacttctca
      1870       1880       1890       1900       1910       1920
gagtcaattc agaattatac tgacaagtca gcacaaaatt tagcatccag aaatctgaaa
      1930       1940       1950       1960       1970       1980
catgagcgtt tccaaagtct tagttttcct catacaaagg aaatgatgaa gatttttcat
      1990       2000       2010       2020       2030       2040
aaaaaatttg gcctgcataa ttttagaact aatcagctag aggcgatcaa tgctgcactg
      2050       2060       2070       2080       2090       2100
cttggtgaag actgttttat cctgatgccg actggaggtg gtaagagttt gtgttaccag
      2110       2120       2130       2140       2150       2160
ctccctgcct gtgtttctcc tggggtcact gttgtcattt ctcccttgag atcacttatc
      2170       2180       2190       2200       2210       2220
gtagatcaag tccaaaagct gacttccttg gatattccag ctacatatct gacaggtgat
      2230       2240       2250       2260       2270       2280
aagactgact cagaagctac aaatatttac ctccagttat caaaaaaaga cccaatcata
      2290       2300       2310       2320       2330       2340
aaacttctat atgtcactcc agaaaagatc tgtgcaagta acagactcat ttctactctg
      2350       2360       2370       2380       2390       2400
gagaatctct atgagaggaa gctcttggca cgttttgtta ttgatgaagc acattgtgtc
      2410       2420       2430       2440       2450       2460
agtcagtggg gacatgattt tcgtcaagat tacaaaagaa tgaatatgct tcgccagaag
      2470       2480       2490       2500       2510       2520
tttccttctg ttccggtgat ggctcttacg gccacagcta atcccagggt acagaaggac
      2530       2540       2550       2560       2570       2580
atcctgactc agctgaagat tctcagacct caggtgttta gcatgagctt taacagacat
      2590       2600       2610       2620       2630       2640
aatctgaaat actatgtatt accgaaaaag cctaaaaagg tggcatttga ttgcctagaa
      2650       2660       2670       2680       2690       2700
tggatcagaa agcaccaccc atatgattca gggataattt actgcctctc caggcgagaa
      2710       2720       2730       2740       2750       2760
tgtgacacca tggctgacac gttacagaga gatgggctcg ctgctcttgc ttaccatgct
      2770       2780       2790       2800       2810       2820
ggcctcagtg attctgccag agatgaagtg cagcagaagt ggattaatca ggatggctgt
      2830       2840       2850       2860       2870       2880
caggttatct gtgctacaat tgcatttgga atggggattg acaaaccgga cgtgcgattt
      2890       2900       2910       2920       2930       2940
gtgattcatg catctctccc taaatctgtg gagggttact accaagaatc tggcagagct
      2950       2960       2970       2980       2990       3000
ggaagagatg gggaaatatc tcactgcctg cttttctata cctatcatga tgtgaccaga
      3010       3020       3030       3040       3050       3060
ctgaaaagac ttataatgat ggaaaaagat ggaaaccatc atacaagaga aactcacttc
      3070       3080       3090       3100       3110       3120
aataatttgt atagcatggt acattactgt gaaaatataa cggaatgcag gagaatacag
      3130       3140       3150       3160       3170       3180
cttttggcct actttggtga aaatggattt aatcctgatt tttgtaagaa acacccagat
      3190       3200       3210       3220       3230       3240
gtttcttgtg ataattgctg taaaacaaag gattataaaa caagagatgt gactgacgat
      3250       3260       3270       3280       3290       3300
gtgaaaagta ttgtaagatt tgttcaagaa catagttcat cacaaggaat gagaaatata
      3310       3320       3330       3340       3350       3360
aaacatgtag gtccttctgg aagatttact atgaatatgc tggtcgacat tttcttgggg
      3370       3380       3390       3400       3410       3420
agtaagagtg caaaaatcca gtcaggtata tttggaaaag gatctgctta ttcacgacac
      3430       3440       3450       3460       3470       3480
aatgccgaaa gactttttaa aaagctgata cttgacaaga ttttggatga agacttatat
      3490       3500       3510       3520       3530       3540
atcaatgcca atgaccaggc gatcgcttat gtgatgctcg gaaataaagc ccaaactgta
      3550       3560       3570       3580       3590       3600
ctaaatggca atttaaaggt agactttatg gaaacagaaa attccagcag tgtgaaaaaa
      3610       3620       3630       3640       3650       3660
caaaaagcgt tagtagcaaa agtgtctcag agggaagaga tggttaaaaa atgtcttgga
      3670       3680       3690       3700       3710       3720
gaacttacag aagtctgcaa atctctgggg aaagtttttg gtgtccatta cttcaatatt
      3730       3740       3750       3760       3770       3780
tttaataccg tcactctcaa gaagcttgca gaatctttat cttctgatcc tgaggttttg
      3790       3800       3810       3820       3830       3840
cttcaaattg atggtgttac tgaagacaaa ctggaaaaat atggtgcgga agtgatttca
      3850       3860       3870       3880       3890       3900
gtattacaga aatactctga atggacatcg ccagctgaag acagttcccc agggataagc
      3910       3920       3930       3940       3950       3960
ctgtccagca gcagaggccc cggaagaagt gccgctgagg agctcgacga ggaaataccc
      3970       3980       3990       4000       4010       4020
gtatcttccc actactttgc aagtaaaacc agaaatgaaa ggaagaggaa aaagatgcca
      4030       4040       4050       4060       4070       4080
gcctcccaaa ggtctaagag gagaaaaact gcttccagtg gttccaaggc aaaggggggg
      4090       4100       4110       4120       4130       4140
tctgccacat gtagaaagat atcttccaaa acgaaatcct ccagcatcat tggatccagt
      4150       4160       4170       4180       4190       4200
tcagcctcac atacttctca agcgacatca ggagccaata gcaaattggg gattatggct
      4210       4220       4230       4240       4250
ccaccgaagc ctataaatag accgtttctt aagccttcat atgcattctc ataa

Last modification date: Oct. 2, 2011