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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18758 Homo sapiens RecQ protein-like 4 (RECQL4), mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu18758C Homo sapiens RecQ protein-like 4 (RECQL4), mRNA. Customized vector On-demand $1699.00 25

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_004260.3, 284005308
Length 3627 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.
Product ATP-dependent DNA helicase Q4
Comment

Summary: 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].

RefSeq NP_004251.3
CDS 43..3669
Misc Feature(1)1459..2010
Misc Feature(2)1459..2010
Misc Feature(3)1531..1971
Misc Feature(4)1555..1569
Misc Feature(5)1855..1866
Misc Feature(6)1855..1866
Misc Feature(7)2095..2493
Misc Feature(8)order(2164..2175,2275..2280,2353..2361)
Misc Feature(9)order(2377..2379,2440..2442,2452..2454,2461..2463)
Exon (1)1..126
Gene:RECQL4
Gene Synonym:RECQ4
Exon (2)127..160
Gene:RECQL4
Gene Synonym:RECQ4
Exon (3)161..255
Gene:RECQL4
Gene Synonym:RECQ4
Exon (4)256..396
Gene:RECQL4
Gene Synonym:RECQ4
Exon (5)397..1173
Gene:RECQL4
Gene Synonym:RECQ4
Exon (6)1174..1300
Gene:RECQL4
Gene Synonym:RECQ4
Exon (7)1301..1432
Gene:RECQL4
Gene Synonym:RECQ4
Exon (8)1433..1525
Gene:RECQL4
Gene Synonym:RECQ4
Exon (9)1526..1662
Gene:RECQL4
Gene Synonym:RECQ4
Exon (10)1663..1746
Gene:RECQL4
Gene Synonym:RECQ4
Exon (11)1747..1920
Gene:RECQL4
Gene Synonym:RECQ4
Exon (12)1921..2100
Gene:RECQL4
Gene Synonym:RECQ4
Exon (13)2101..2242
Gene:RECQL4
Gene Synonym:RECQ4
Exon (14)2243..2505
Gene:RECQL4
Gene Synonym:RECQ4
Exon (15)2506..2797
Gene:RECQL4
Gene Synonym:RECQ4
Exon (16)2798..2927
Gene:RECQL4
Gene Synonym:RECQ4
Exon (17)2928..3097
Gene:RECQL4
Gene Synonym:RECQ4
Exon (18)3098..3278
Gene:RECQL4
Gene Synonym:RECQ4
Exon (19)3279..3435
Gene:RECQL4
Gene Synonym:RECQ4
Exon (20)3436..3544
Gene:RECQL4
Gene Synonym:RECQ4
Exon (21)3545..3816
Gene:RECQL4
Gene Synonym:RECQ4
Translation MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLR SSESLPAAAEEAPEPRCWGPHLNRAATKSPQPTPGRSRQGSVPDYGQRLKANLKGTLQAG PALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLS QRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEAS AFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPG EPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQ KHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPA SEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQA FRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQ VSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVA FACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAE EPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALL RTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDR PDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFL AVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGH ERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALA HRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGV RRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSV AFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVR CDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLAT EELLQVAR
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Position Chain Variation Link
6+dbSNP:
6+a, cdbSNP:35667555
complement(17..18)-, tdbSNP:35464170
37+c, tdbSNP:35827852
complement(46..47)-, adbSNP:35093233
174+dbSNP:
174+a, gdbSNP:2306386
203+a, gdbSNP:35198096
complement(237)-g, cdbSNP:369163654
254+a, gdbSNP:34642881
complement(272)-dbSNP:
complement(272)-t, cdbSNP:373705170
complement(308)-t, cdbSNP:372648595
316+c, tdbSNP:2721190
complement(317)-g, adbSNP:200516441
complement(328)-t, gdbSNP:375568877
complement(342)-t, cdbSNP:34496005
complement(344)-g, adbSNP:62530445
complement(346)-t, cdbSNP:377536752
complement(350)-g, adbSNP:199543866
351+a, gdbSNP:4251688
complement(372)-t, cdbSNP:193091206
complement(377)-t, cdbSNP:372651895
complement(379)-t, gdbSNP:370011366
complement(387)-g, adbSNP:377027093
complement(393)-t, cdbSNP:373085511
complement(413)-dbSNP:
complement(413)-t, cdbSNP:368160871
complement(427)-g, adbSNP:201542692
complement(428)-g, adbSNP:370624395
complement(455)-g, cdbSNP:368127528
complement(465)-t, cdbSNP:374243448
complement(467)-g, adbSNP:370312522
complement(489)-g, adbSNP:377485079
complement(507)-g, cdbSNP:116137512
complement(534)-t, cdbSNP:368335924
complement(556)-g, adbSNP:188859497
complement(559)-g, adbSNP:373180788
complement(562)-g, cdbSNP:369382124
complement(583)-g, cdbSNP:375356144
complement(585)-g, adbSNP:34159914
complement(593)-t, cdbSNP:369118443
complement(600)-t, cdbSNP:376582536
607+a, gdbSNP:34371341
complement(646)-g, cdbSNP:61754062
complement(657)-g, cdbSNP:35639991
complement(676)-g, adbSNP:377012693
complement(688)-t, cdbSNP:201301365
complement(705)-g, adbSNP:367960606
complement(727)-g, cdbSNP:374104402
complement(751)-g, cdbSNP:370391716
complement(758)-g, adbSNP:146709578
complement(777)-g, adbSNP:373764166
780+c, tdbSNP:4244613
complement(796)-g, adbSNP:376485578
complement(797)-g, adbSNP:199773279
complement(800)-t, cdbSNP:373588660
complement(819)-g, adbSNP:201571855
complement(820)-t, cdbSNP:370919817
843+c, gdbSNP:4244612
848+a, gdbSNP:137853231
859+a, gdbSNP:34103564
complement(904)-t, cdbSNP:199706417
complement(907)-t, cdbSNP:200382712
933+c, tdbSNP:34700133
complement(935)-g, adbSNP:373334948
complement(941)-t, cdbSNP:369842607
943+a, gdbSNP:34633809
complement(951)-t, cdbSNP:377295171
complement(965)-g, adbSNP:372417964
complement(971)-g, cdbSNP:368504960
complement(986)-g, adbSNP:376493359
complement(987)-t, cdbSNP:371593078
complement(1041)-g, adbSNP:368084547
complement(1056)-g, adbSNP:373657692
complement(1065)-g, adbSNP:371421344
complement(1085)-t, cdbSNP:201763704
complement(1105)-g, adbSNP:368601097
complement(1106)-g, cdbSNP:374743591
complement(1114)-t, cdbSNP:371503929
complement(1115)-g, adbSNP:376652305
complement(1120)-g, adbSNP:375236875
complement(1131)-g, adbSNP:377589237
complement(1132)-t, cdbSNP:144637135
complement(1150)-g, adbSNP:368979398
complement(1151)-t, cdbSNP:377494266
complement(1157)-g, cdbSNP:200097701
complement(1159)-g, adbSNP:370125881
1166+a, gdbSNP:398124115
complement(1169)-t, cdbSNP:375459768
complement(1171)-g, cdbSNP:372521987
complement(1193)-dbSNP:
complement(1193)-t, cdbSNP:376045624
complement(1201)-t, cdbSNP:202043854
complement(1202)-c, adbSNP:369815468
1208..1209+, gtdbSNP:34134064
complement(1261)-t, cdbSNP:117670586
complement(1276)-g, adbSNP:377546182
complement(1288)-g, adbSNP:373098131
complement(1294)-g, adbSNP:369670064
complement(1337)-dbSNP:
complement(1337)-g, adbSNP:368160954
complement(1369)-t, cdbSNP:375694004
complement(1389)-g, adbSNP:200763671
complement(1390)-t, cdbSNP:200941778
complement(1437)-dbSNP:
complement(1437)-g, adbSNP:34948955
1439+c, tdbSNP:386833844
complement(1440)-t, cdbSNP:145615931
complement(1446)-t, cdbSNP:371046973
complement(1533)-dbSNP:
complement(1533)-g, adbSNP:369306389
complement(1535)-g, adbSNP:376587038
complement(1553)-t, gdbSNP:183852597
complement(1572)-g, cdbSNP:372597841
complement(1584)-t, gdbSNP:368572714
complement(1590)-t, cdbSNP:377022089
1606+c, tdbSNP:35407712
complement(1607)-g, adbSNP:35842750
complement(1612)-g, adbSNP:374965803
1615+, tdbSNP:386833845
complement(1618)-g, adbSNP:200732690
complement(1623)-t, cdbSNP:367559988
complement(1667)-dbSNP:
complement(1667)-g, adbSNP:369852601
complement(1679)-g, adbSNP:377298374
complement(1689)-t, cdbSNP:371972881
complement(1726)-g, adbSNP:61759892
complement(1727)-t, cdbSNP:375562152
complement(1736)-t, adbSNP:187220982
complement(1738)-g, adbSNP:371981215
complement(1739)-g, adbSNP:201648505
complement(1750)-dbSNP:
complement(1750)-g, adbSNP:373178405
complement(1762)-t, cdbSNP:368983561
complement(1812)-g, adbSNP:377398995
complement(1814)-t, cdbSNP:2721191
complement(1815)-g, adbSNP:188065371
complement(1821)-g, adbSNP:369939552
complement(1822)-t, cdbSNP:376364416
complement(1861)-t, cdbSNP:372075714
complement(1863)-g, adbSNP:369178106
complement(1864)-g, adbSNP:375033380
complement(1869)-g, adbSNP:371310357
complement(1889)-t, cdbSNP:199654783
complement(1906)-g, adbSNP:373717016
complement(1910)-t, cdbSNP:201734382
complement(1911)-g, adbSNP:368736533
complement(1912)-t, cdbSNP:375100228
complement(1913)-g, adbSNP:370912793
complement(1914)-g, adbSNP:201815449
1927..1930+dbSNP:
1927..1930+, cgggdbSNP:386833846
1929..1932+, ggagdbSNP:386833847
1952+c, tdbSNP:386833848
1978+c, tdbSNP:398124116
complement(1982)-c, adbSNP:372664774
complement(1996)-t, cdbSNP:61754061
complement(2008)-g, adbSNP:55667349
complement(2009)-g, adbSNP:377038310
complement(2014)-t, cdbSNP:373608888
complement(2035)-g, adbSNP:369674791
complement(2056)-t, cdbSNP:375173022
complement(2081)-g, adbSNP:372717152
complement(2111)-dbSNP:
complement(2111)-g, adbSNP:369950284
2133+g, tdbSNP:386833850
complement(2154)-g, adbSNP:368140492
complement(2155)-t, cdbSNP:374262706
complement(2167)-g, adbSNP:199562131
complement(2173)-t, cdbSNP:371818842
complement(2178)-g, adbSNP:377493345
complement(2185)-g, adbSNP:373292946
complement(2186)-t, g, cdbSNP:184775551
complement(2227)-t, cdbSNP:376141829
complement(2238)-t, adbSNP:373197205
complement(2261..2262)-dbSNP:
complement(2261..2262)-, gdbSNP:377744671
complement(2265)-t, cdbSNP:34271972
complement(2266)-t, cdbSNP:377026680
complement(2268)-c, adbSNP:200002105
complement(2277)-g, adbSNP:372501393
complement(2279)-g, adbSNP:201883228
complement(2280)-g, adbSNP:35215952
complement(2284)-t, adbSNP:370755504
complement(2299)-g, adbSNP:367570292
complement(2302)-g, adbSNP:193024188
complement(2303)-t, cdbSNP:190061994
2311+c, tdbSNP:137853229
2338+, cdbSNP:398010167
complement(2345)-g, adbSNP:370863264
complement(2371)-c, adbSNP:377173936
complement(2380)-g, adbSNP:372741479
complement(2381)-c, adbSNP:369488194
2419+c, tdbSNP:35098923
complement(2437)-g, adbSNP:34293591
2457+c, tdbSNP:34735741
complement(2466)-g, adbSNP:377301609
complement(2476)-t, cdbSNP:372372052
complement(2502)-g, adbSNP:202078917
complement(2509)-dbSNP:
complement(2509)-t, cdbSNP:368611522
complement(2514)-g, adbSNP:374639679
complement(2515)-g, cdbSNP:371519199
2518+c, tdbSNP:386833851
complement(2528)-t, cdbSNP:375250269
complement(2533)-g, adbSNP:370432468
complement(2541)-g, adbSNP:377593129
complement(2545)-t, cdbSNP:373187237
complement(2552)-g, adbSNP:149067160
complement(2560)-g, adbSNP:201106179
complement(2585)-t, cdbSNP:368989729
complement(2586)-g, adbSNP:200114521
complement(2587)-t, cdbSNP:201661055
complement(2613)-g, adbSNP:368088860
complement(2619..2620)-, gdbSNP:145431180
complement(2622)-t, cdbSNP:370134665
complement(2628)-t, cdbSNP:201012205
2643+c, gdbSNP:34358597
complement(2644)-t, cdbSNP:369250614
complement(2674)-g, adbSNP:375036010
complement(2678)-t, gdbSNP:137975310
complement(2695)-g, adbSNP:367559549
complement(2729)-g, adbSNP:373763805
complement(2747)-t, cdbSNP:372205013
complement(2750)-g, adbSNP:150308387
complement(2766)-g, adbSNP:368908286
complement(2770)-t, cdbSNP:374225917
complement(2782)-t, cdbSNP:371327041
complement(2785)-t, cdbSNP:374898583
complement(2789)-g, adbSNP:375049839
complement(2790)-t, cdbSNP:370679924
complement(2791)-t, cdbSNP:377343487
complement(2797)-t, cdbSNP:186739072
complement(2799)-dbSNP:
complement(2799)-g, adbSNP:374692233
complement(2803)-t, cdbSNP:371890521
complement(2811)-t, cdbSNP:368618566
complement(2817)-g, adbSNP:376838923
complement(2821)-g, cdbSNP:372304382
complement(2847)-t, cdbSNP:371434213
complement(2853)-t, cdbSNP:368178215
complement(2859)-t, cdbSNP:202045203
complement(2888)-t, cdbSNP:370549048
complement(2911)-g, adbSNP:368081792
complement(2921)-g, adbSNP:373651108
complement(2932)-dbSNP:
complement(2932)-t, gdbSNP:33972310
complement(2932)-, gdbSNP:368710171
2968+a, gdbSNP:35070885
complement(2994)-g, adbSNP:373784742
complement(2995)-t, cdbSNP:200629599
complement(3009)-t, cdbSNP:200018416
complement(3010)-t, cdbSNP:151223648
complement(3025)-t, adbSNP:373202723
complement(3040)-g, adbSNP:369172759
complement(3051)-g, adbSNP:34919378
3052+c, tdbSNP:36023964
complement(3055)-g, adbSNP:368982201
3056+a, gdbSNP:4251691
complement(3069)-t, cdbSNP:372660887
complement(3100)-dbSNP:
complement(3100)-t, cdbSNP:114149451
3103+c, tdbSNP:137853232
complement(3104)-g, adbSNP:34666647
3114+, adbSNP:386833852
complement(3115)-g, cdbSNP:373739637
complement(3118)-c, adbSNP:370954099
complement(3131)-g, adbSNP:376504280
complement(3155)-t, cdbSNP:374254271
complement(3161)-g, adbSNP:370867731
complement(3169)-g, adbSNP:4925828
3170+a, tdbSNP:398124118
complement(3174)-g, adbSNP:373238823
complement(3175)-g, adbSNP:35348691
complement(3185)-t, cdbSNP:202203322
complement(3198)-g, adbSNP:200530038
complement(3204)-g, adbSNP:373372297
complement(3214)-g, cdbSNP:375297971
complement(3226)-g, adbSNP:199658221
3256+a, tdbSNP:386833853
complement(3289)-dbSNP:
complement(3289)-t, gdbSNP:374434439
3313+c, tdbSNP:137853230
complement(3328)-g, adbSNP:371049072
complement(3355)-g, adbSNP:34915097
complement(3356)-g, adbSNP:36078464
3359+a, gdbSNP:34236392
complement(3363)-g, cdbSNP:376392965
3379+c, gdbSNP:35101495
complement(3389)-g, adbSNP:368671582
complement(3390)-t, cdbSNP:368712314
complement(3403)-t, cdbSNP:377390897
complement(3405)-g, adbSNP:148752485
complement(3406)-t, cdbSNP:369843844
complement(3426)-g, cdbSNP:376559433
complement(3434)-t, cdbSNP:201369291
complement(3444)-dbSNP:
complement(3444)-g, adbSNP:371037028
complement(3460)-g, adbSNP:375432640
complement(3465)-g, adbSNP:370611564
complement(3466)-t, g, cdbSNP:61755067
complement(3472)-g, adbSNP:202134651
complement(3477)-g, cdbSNP:61755066
3485+c, tdbSNP:35346077
complement(3507)-g, adbSNP:376874393
complement(3509)-g, adbSNP:373652049
complement(3522)-g, adbSNP:34914400
complement(3537..3538)-, cdbSNP:35626651
complement(3537)-g, adbSNP:202083938
complement(3549)-dbSNP:
complement(3549)-t, gdbSNP:370738615
complement(3566)-t, cdbSNP:367898813
complement(3573)-g, adbSNP:139228543
complement(3584)-t, cdbSNP:370069034
complement(3586)-g, adbSNP:376981214
complement(3615)-g, adbSNP:199885535
complement(3622)-c, adbSNP:201809411
complement(3628)-t, cdbSNP:371461701
complement(3636)-t, cdbSNP:146398243
3641..3642+, cgdbSNP:386833854
3642+a, gdbSNP:35225938
complement(3642)-g, adbSNP:386583384
complement(3651)-g, adbSNP:201384843
3664+c, tdbSNP:41555416
complement(3666)-g, adbSNP:56341125
complement(3678)-g, adbSNP:55805048
complement(3680)-g, adbSNP:200068546
complement(3692)-t, cdbSNP:201586678
complement(3702)-c, adbSNP:377112630
complement(3805)-g, adbSNP:377594353
Gene SymbolRECQL4
Gene SynonymRECQ4
Chromosome8
Locus Map8q24.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004260 Homo sapiens RecQ protein-like 4 (RECQL4), mRNA. On-demand $1699.00 25
Title Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype .
Author Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G and Larizza L.
Journal Eur. J. Hum. Genet. (2014) In press
Title RECQL4 and p53 potentiate the activity of polymerase gamma and maintain the integrity of the human mitochondrial genome .
Author Gupta S, De S, Srivastava V, Hussain M, Kumari J, Muniyappa K and Sengupta S.
Journal Carcinogenesis 35 (1), 34-45 (2014)
Title RecQL4 helicase amplification is involved in human breast tumorigenesis .
Author Fang H, Nie L, Chi Z, Liu J, Guo D, Lu X, Hei TK, Balajee AS and Zhao Y.
Journal PLoS ONE 8 (7), E69600 (2013)
Title The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions .
Author Ferrarelli LK, Popuri V, Ghosh AK, Tadokoro T, Canugovi C, Hsu JK, Croteau DL and Bohr VA.
Journal DNA Repair (Amst.) 12 (7), 518-528 (2013)
Title Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products .
Author Kitao S, Lindor NM, Shiratori M, Furuichi Y and Shimamoto A.
Journal Genomics 61 (3), 268-276 (1999)
Title Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome .
Author Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM and Furuichi Y.
Journal Nat. Genet. 22 (1), 82-84 (1999)
Title Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes .
Author Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y and Shimamoto A.
Journal Genomics 54 (3), 443-452 (1998)
Title Rothmund-Thomson Syndrome .
Author Wang,L.L. and Plon,S.E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Baller-Gerold Syndrome .
Author Van Maldergem,L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Intrafusal fibre types in rat limb muscle spindles: morphological and histochemical characteristics .
Author Soukup,T.
Journal Histochemistry 47 (1), 43-57 (1976)

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