Homo sapiens L. (human) [HSA]

FULL NAME: ATP-dependent DNA helicase Q4


DESCRIPTION:
DNA-dependent ATPase. May modulate chromosome segregation.

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


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


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


RELATED DISEASE(S):
RAPADILINO syndrome
Baller-Gerold syndrome
Rothmund-Thomson syndrome (RTS)


Amino acids sequence

        10         20         30         40         50         60
MERLRDVRER LQAWERAFRR QRGRRPSQDD VEAAPEETRA LYREYRTLKR TTGQAGGGLR
        70         80         90        100        110        120
SSESLPAAAE EAPEPRCWGP HLNRAATKSP QPTPGRSRQG SVPDYGQRLK ANLKGTLQAG
       130        140        150        160        170        180
PALGRRPWPL GRASSKASTP KPPGTGPVPS FAEKVSDEPP QLPEPQPRPG RLQHLQASLS
       190        200        210        220        230        240
QRLGSLDPGW LQRCHSEVPD FLGAPKACRP DLGSEESQLL IPGESAVLGP GAGSQGPEAS
       250        260        270        280        290        300
AFQEVSIRVG SPQPSSSGGE KRRWNEEPWE SPAQVQQESS QAGPPSEGAG AVAVEEDPPG
       310        320        330        340        350        360
EPVQAQPPQP CSSPSNPRYH GLSPSSQARA GKAEGTAPLH IFPRLARHDR GNYVRLNMKQ
       370        380        390        400        410        420
KHYVRGRALR SRLLRKQAWK QKWRKKGECF GGGGATVTTK ESCFLNEQFD HWAAQCPRPA
       430        440        450        460        470        480
SEEDTDAVGP EPLVPSPQPV PEVPSLDPTV LPLYSLGPSG QLAETPAEVF QALEQLGHQA
       490        500        510        520        530        540
FRPGQERAVM RILSGISTLL VLPTGAGKSL CYQLPALLYS RRSPCLTLVV SPLLSLMDDQ
       550        560        570        580        590        600
VSGLPPCLKA ACIHSGMTRK QRESVLQKIR AAQVHVLMLT PEALVGAGGL PPAAQLPPVA
       610        620        630        640        650        660
FACIDEAHCL SQWSHNFRPC YLRVCKVLRE RMGVHCFLGL TATATRRTAS DVAQHLAVAE
       670        680        690        700        710        720
EPDLHGPAPV PTNLHLSVSM DRDTDQALLT LLQGKRFQNL DSIIIYCNRR EDTERIAALL
       730        740        750        760        770        780
RTCLHAAWVP GSGGRAPKTT AEAYHAGMCS RERRRVQRAF MQGQLRVVVA TVAFGMGLDR
       790        800        810        820        830        840
PDVRAVLHLG LPPSFESYVQ AVGRAGRDGQ PAHCHLFLQP QGEDLRELRR HVHADSTDFL
       850        860        870        880        890        900
AVKRLVQRVF PACTCTCTRP PSEQEGAVGG ERPVPKYPPQ EAEQLSHQAA PGPRRVCMGH
       910        920        930        940        950        960
ERALPIQLTV QALDMPEEAI ETLLCYLELH PHHWLELLAT TYTHCRLNCP GGPAQLQALA
       970        980        990       1000       1010       1020
HRCPPLAVCL AQQLPEDPGQ GSSSVEFDMV KLVDSMGWEL ASVRRALCQL QWDHEPRTGV
      1030       1040       1050       1060       1070       1080
RRGTGVLVEF SELAFHLRSP GDLTAEEKDQ ICDFLYGRVQ ARERQALARL RRTFQAFHSV
      1090       1100       1110       1120       1130       1140
AFPSCGPCLE QQDEERSTRL KDLLGRYFEE EEGQEPGGME DAQGPEPGQA RLQDWEDQVR
      1150       1160       1170       1180       1190       1200
CDIRQFLSLR PEEKFSSRAV ARIFHGIGSP CYPAQVYGQD RRFWRKYLHL SFHALVGLAT

EELLQVAR     

Encoded by RECQL4 gene

FULL NAME: RecQ protein-like 4


OTHER NAME(S):
RECQ4


DESCRIPTION:
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]


Nucleic acid sequence

        10         20         30         40         50         60
atggagcggc tgcgggacgt gcgggagcgg ctgcaggcgt gggagcgcgc gttccgacgg
        70         80         90        100        110        120
cagcgcgggc ggcgaccgag ccaggacgac gtggaggcgg cgccggagga gacccgcgcg
       130        140        150        160        170        180
ctctaccggg aataccgcac tctgaagcgt accacgggcc aggccggcgg cgggctccgc
       190        200        210        220        230        240
agctccgagt cgctccccgc ggcggccgaa gaggcgccag agccccgctg ctgggggccc
       250        260        270        280        290        300
catctgaatc gggctgcgac caagagtcca cagcctacgc cagggcggag ccgccagggc
       310        320        330        340        350        360
tcggtgccgg actacgggca gcggctcaag gccaatctga aaggcaccct gcaggccgga
       370        380        390        400        410        420
ccagccctgg gccgcagacc gtggcctcta ggaagagcct catctaaggc atccacccca
       430        440        450        460        470        480
aagcccccag gtacagggcc tgtcccctcc tttgcagaaa aagtcagtga tgagcctcca
       490        500        510        520        530        540
cagctccctg agccccagcc aaggccaggc cggctccagc atctgcaggc atccctgagc
       550        560        570        580        590        600
cagcggctgg gctccctaga tcctggctgg ttacagcgat gtcacagtga ggtcccagat
       610        620        630        640        650        660
tttctggggg cccccaaagc ctgcaggcct gatctaggct cagaggaatc acaacttctg
       670        680        690        700        710        720
atccctggtg agtcggctgt ccttggtcct ggtgctggct cccagggccc agaggcttca
       730        740        750        760        770        780
gccttccaag aagtcagcat ccgtgtgggg agcccccagc ccagcagcag tggaggcgag
       790        800        810        820        830        840
aagcggagat ggaacgagga gccctgggag agccccgcac aggtccagca ggagagcagc
       850        860        870        880        890        900
caagctggac ccccatcgga gggggctggg gctgtagcag ttgaggaaga ccctccaggg
       910        920        930        940        950        960
gaacctgtac aggcacagcc acctcagccc tgcagcagcc catcgaaccc caggtaccac
       970        980        990       1000       1010       1020
ggactcagcc cctccagtca agctagggct gggaaggctg agggcacagc ccccctgcac
      1030       1040       1050       1060       1070       1080
atcttccctc ggctggcccg ccatgacagg ggcaattacg tacggctcaa catgaagcag
      1090       1100       1110       1120       1130       1140
aaacactacg tgcggggccg ggcactccgt agcaggctcc tccgcaagca ggcatggaag
      1150       1160       1170       1180       1190       1200
cagaagtggc ggaagaaagg ggagtgtttt gggggtggtg gtgccacagt cacaaccaag
      1210       1220       1230       1240       1250       1260
gagtcttgtt tcctgaacga gcagttcgat cactgggcag cccagtgtcc ccggccagca
      1270       1280       1290       1300       1310       1320
agtgaggaag acacagatgc tgttgggcct gagccactgg ttccttcacc acaacctgta
      1330       1340       1350       1360       1370       1380
cctgaggtgc ccagcctgga ccccaccgtg ctgccactct actccctggg gccctcaggg
      1390       1400       1410       1420       1430       1440
cagttggcag agacgccggc tgaggtgttc caggccctgg agcagctggg gcaccaagcc
      1450       1460       1470       1480       1490       1500
tttcgccctg ggcaggagcg tgcagtcatg cggatcctgt ctggcatctc cacgctgctg
      1510       1520       1530       1540       1550       1560
gtgctgccta caggtgccgg caagtccctg tgctaccagc tcccagcgct gctctacagc
      1570       1580       1590       1600       1610       1620
cggcgcagcc cctgcctcac gttggtcgtc tctcccctgc tgtcactcat ggatgaccag
      1630       1640       1650       1660       1670       1680
gtgtctggcc tgccaccgtg tctcaaggcg gcctgcatac actcgggcat gaccaggaag
      1690       1700       1710       1720       1730       1740
caacgggaat ctgtcctgca gaagattcgg gcagcccagg tacacgtgct gatgctgaca
      1750       1760       1770       1780       1790       1800
cctgaggcac tggtgggggc gggaggcctc cctccagccg cacagctgcc tccagttgct
      1810       1820       1830       1840       1850       1860
tttgcctgca ttgatgaggc ccactgcctc tcccagtggt cccacaactt ccggccctgc
      1870       1880       1890       1900       1910       1920
tacctgcgcg tctgcaaggt gcttcgggag cgcatgggcg tgcactgctt cctgggcctc
      1930       1940       1950       1960       1970       1980
acagccacag ccacacgccg cactgccagt gacgtggcac agcacctggc tgtggctgaa
      1990       2000       2010       2020       2030       2040
gagcctgacc tccacgggcc agccccagtt cccaccaacc tgcacctttc cgtgtccatg
      2050       2060       2070       2080       2090       2100
gacagggaca cagaccaggc actgttgacg ctgctgcaag gcaaacgttt tcaaaacctc
      2110       2120       2130       2140       2150       2160
gattccatta tcatttactg caaccggcgc gaggacacag agcggatcgc tgcgctcctc
      2170       2180       2190       2200       2210       2220
cgaacctgcc tgcacgcagc ctgggtccca gggtctggag gtcgtgcccc caaaaccaca
      2230       2240       2250       2260       2270       2280
gccgaggcct accacgcggg catgtgcagc cgggaacggc ggcgggtaca gcgagccttc
      2290       2300       2310       2320       2330       2340
atgcagggcc agttgcgggt ggtggtggcc acggtggcct ttgggatggg gctggaccgg
      2350       2360       2370       2380       2390       2400
ccagatgtgc gggctgtgct gcatctgggg ctgcccccaa gcttcgagag ctacgtgcag
      2410       2420       2430       2440       2450       2460
gccgtgggcc gggccgggcg tgacgggcag cctgcccact gccacctctt cctgcagccc
      2470       2480       2490       2500       2510       2520
cagggcgaag acctgcgaga gctgcgcaga catgtgcacg ccgacagcac ggacttcctg
      2530       2540       2550       2560       2570       2580
gctgtgaaga ggctggtaca gcgcgtgttc ccagcctgca cctgcacctg caccaggccg
      2590       2600       2610       2620       2630       2640
ccctcggagc aggaaggggc cgtgggtggg gagaggcctg tgcccaagta cccccctcaa
      2650       2660       2670       2680       2690       2700
gaggctgagc agcttagcca ccaagcagcc ccaggaccca gaagggtctg catgggccat
      2710       2720       2730       2740       2750       2760
gagcgggcac tcccaataca gcttaccgta caggctttgg acatgccgga ggaggccatc
      2770       2780       2790       2800       2810       2820
gagactttgc tgtgctacct ggagctgcac ccacaccact ggctggagct gctggcgacc
      2830       2840       2850       2860       2870       2880
acctataccc attgccgtct gaactgccct gggggccctg cccagctcca ggccctggcc
      2890       2900       2910       2920       2930       2940
cacaggtgtc cccctttggc tgtgtgcttg gcccagcagc tgcctgagga cccagggcaa
      2950       2960       2970       2980       2990       3000
ggcagcagct ccgtggagtt tgacatggtc aagctggtgg actccatggg ctgggagctg
      3010       3020       3030       3040       3050       3060
gcctctgtgc ggcgggctct ctgccagctg cagtgggacc acgagcccag gacaggtgtg
      3070       3080       3090       3100       3110       3120
cggcgtggga caggggtgct tgtggagttc agtgagctgg ccttccacct tcgcagcccg
      3130       3140       3150       3160       3170       3180
ggggacctga ccgctgagga gaaggaccag atatgtgact tcctctatgg ccgtgtgcag
      3190       3200       3210       3220       3230       3240
gcccgggagc gccaggccct ggcccgtctg cgcagaacct tccaggcctt tcacagcgta
      3250       3260       3270       3280       3290       3300
gccttcccca gctgcgggcc ctgcctggag cagcaggatg aggagcgcag caccaggctc
      3310       3320       3330       3340       3350       3360
aaggacctgc tcggccgcta ctttgaggaa gaggaagggc aggagccggg aggcatggag
      3370       3380       3390       3400       3410       3420
gacgcacagg gccccgagcc agggcaggcc agactccagg attgggagga ccaggtccgc
      3430       3440       3450       3460       3470       3480
tgcgacatcc gccagttcct gtccctgagg ccagaggaga agttctccag cagggctgtg
      3490       3500       3510       3520       3530       3540
gcccgcatct tccacggcat cggaagcccc tgctacccgg cccaggtgta cgggcaggac
      3550       3560       3570       3580       3590       3600
cgacgcttct ggagaaaata cctgcacctg agcttccatg ccctggtggg cctggccacg
      3610       3620
gaagagctcc tgcaggtggc ccgctga   

Last modification date: Oct. 2, 2011