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Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu24947 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu24947C Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_173660.4, 257467678
Length 1515 bp
Structure linear
Update Date 17-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.
Product protein Dok-7 isoform 1
Comment

Summary: The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].


Transcript Variant: This variant (1) represents the longer and predominant variant, and encodes the longer isoform (1).

RefSeq NP_775931.3
CDS 71..1585
Misc Feature(1)62..64
Misc Feature(2)92..370
Misc Feature(3)92..370
Misc Feature(4)392..694
Misc Feature(5)order(539..556,572..574,584..589,617..619,656..658)
Exon (1)1..124
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (2)125..170
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (3)171..401
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (4)402..602
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (5)603..722
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (6)723..842
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Exon (7)843..2566
Gene:DOK7
Gene Synonym:C4orf25; CMS1B
Translation MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLE DICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAP GTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAG VFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPR PAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSL DVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSP PSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP HAGPPPAFFSACPVCGGLKVNPPP
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Position Chain Variation Link
41+dbSNP:
41+g, tdbSNP:146168804
65+c, gdbSNP:191800156
101+c, gdbSNP:370421989
102+c, tdbSNP:375168516
106+g, tdbSNP:368106071
204+dbSNP:
204+c, tdbSNP:62272670
213+c, tdbSNP:147359949
221+, cdbSNP:34654617
225+a, gdbSNP:201953114
231+a, gdbSNP:201818140
248+a, gdbSNP:199980106
255+c, tdbSNP:369362812
259+c, tdbSNP:372989037
272+a, gdbSNP:376509451
290+c, tdbSNP:4325970
322+c, gdbSNP:373986626
352+c, tdbSNP:377025553
366+c, tdbSNP:138010842
367+a, gdbSNP:201351460
378+a, gdbSNP:377554325
383+c, tdbSNP:115883468
390+c, tdbSNP:375503613
393+c, tdbSNP:79740822
397+c, tdbSNP:377367035
408+dbSNP:
408+a, gdbSNP:267600141
453+c, tdbSNP:376659660
525+a, gdbSNP:150376433
545+c, tdbSNP:368891521
556+c, tdbSNP:371609452
560+c, tdbSNP:142756576
609+dbSNP:
609+c, gdbSNP:118203994
610+c, tdbSNP:201892786
611+a, gdbSNP:146076204
631+c, tdbSNP:140026458
634+g, tdbSNP:375631042
637+a, gdbSNP:141808910
643+c, gdbSNP:146277586
647+a, gdbSNP:139133047
653+c, gdbSNP:370192452
658+c, tdbSNP:149940009
659+a, gdbSNP:16844422
666+g, tdbSNP:148650015
671+c, tdbSNP:118203995
699+c, tdbSNP:144307762
708+a, gdbSNP:371408752
711+c, tdbSNP:147760280
731+dbSNP:
731+c, tdbSNP:377167511
734+c, tdbSNP:367928476
735+c, tdbSNP:141141719
738+a, gdbSNP:146895834
756+a, gdbSNP:151334056
758+c, tdbSNP:202077864
761+a, gdbSNP:369297851
787+a, gdbSNP:373509531
800+c, tdbSNP:140544446
818+c, tdbSNP:201325925
822..830+, cgggcaggcdbSNP:373384998
822+c, tdbSNP:376251309
823+a, gdbSNP:59932476
827+a, tdbSNP:370967580
831+c, tdbSNP:200407250
835+a, cdbSNP:138215484
851+dbSNP:
851+c, tdbSNP:142821143
852+a, gdbSNP:16844460
878+a, gdbSNP:138794794
879+a, cdbSNP:141979124
882+c, gdbSNP:144592743
886+c, gdbSNP:115614731
892+c, tdbSNP:141732576
893+a, gdbSNP:370102558
901+c, tdbSNP:150549589
complement(903)-t, cdbSNP:3123331
906+a, gdbSNP:3135163
908+c, tdbSNP:139573161
909+a, gdbSNP:144269117
916+c, tdbSNP:141147662
917+a, gdbSNP:139429423
937+c, gdbSNP:145862647
940+a, gdbSNP:149019681
950+a, gdbSNP:143821601
951+c, tdbSNP:151079259
952+a, gdbSNP:369425286
957+a, gdbSNP:6811423
973+a, cdbSNP:145040126
974+c, gdbSNP:79063654
988+c, tdbSNP:141947707
989+a, gdbSNP:150415034
991+c, tdbSNP:138148221
998+a, gdbSNP:373158016
1026+a, cdbSNP:376334067
1033+a, gdbSNP:112624739
1037+c, tdbSNP:150728781
1042+a, gdbSNP:373041663
1043+c, tdbSNP:376280466
1045+a, gdbSNP:370661591
1064+c, tdbSNP:200394790
1077+c, tdbSNP:377757018
1078+a, gdbSNP:185050737
1090+c, tdbSNP:370838856
1099+c, tdbSNP:375877997
1101+a, gdbSNP:189528618
1135+c, tdbSNP:200284964
1137+c, tdbSNP:368512847
1138+a, gdbSNP:372407972
1161+a, gdbSNP:201304841
1173+a, gdbSNP:375795223
1183+a, cdbSNP:6811856
1203+c, tdbSNP:371846002
1204+a, gdbSNP:6831659
1210+c, tdbSNP:369242107
1213+c, tdbSNP:56769879
1238+c, tdbSNP:149525610
1240+c, gdbSNP:199525739
1241+a, gdbSNP:144158112
1249+c, gdbSNP:138797230
1255+c, tdbSNP:6850908
1263+c, tdbSNP:201426254
1274+c, tdbSNP:149905649
1275+a, gdbSNP:370039804
1289+a, tdbSNP:377326004
1295+c, tdbSNP:199606134
1296+a, gdbSNP:377528603
1300+a, cdbSNP:200593935
1313+c, tdbSNP:16844464
1314+c, g, tdbSNP:142510199
1327+c, tdbSNP:371113155
1328+c, gdbSNP:150497723
1332+a, cdbSNP:373261147
1348+c, g, tdbSNP:139468087
1349+g, tdbSNP:377555406
1350+a, gdbSNP:2020433
1365+a, gdbSNP:145419117
1375+a, c, tdbSNP:201894731
1376+a, c, gdbSNP:201392182
1383+c, tdbSNP:376805794
1384+a, gdbSNP:371276345
1387+c, tdbSNP:16844467
1390+c, tdbSNP:368868378
1408+c, gdbSNP:371172914
1416+c, tdbSNP:373864257
1420+a, gdbSNP:80112594
1421+c, tdbSNP:16844470
1422+a, gdbSNP:200675356
1424+c, tdbSNP:375116985
1429+c, tdbSNP:369500357
1452+a, gdbSNP:9684786
1476+a, cdbSNP:147185207
1505+a, gdbSNP:140519765
1506+c, gdbSNP:368773296
1527+c, tdbSNP:200015934
1539+c, tdbSNP:77513082
1550+a, gdbSNP:202073484
1557+g, tdbSNP:373205256
1558+a, gdbSNP:80246418
1572+a, tdbSNP:377454797
1577+a, cdbSNP:184556570
1578+c, gdbSNP:377450263
1588+g, tdbSNP:369126360
1589+c, tdbSNP:373595740
1599+c, tdbSNP:370212321
1600+a, gdbSNP:377201269
1605+a, gdbSNP:370678932
1613+a, cdbSNP:147844706
1640+c, gdbSNP:11733064
1644+a, gdbSNP:190088769
1652+c, tdbSNP:73195198
1672..1678+, ggtgctcdbSNP:145037416
1731+c, tdbSNP:113699027
1732+a, gdbSNP:73793944
1740+a, gdbSNP:186419797
1773+c, gdbSNP:189300778
1778+a, tdbSNP:368123801
1803+a, c, g, tdbSNP:10022432
1812+a, gdbSNP:113865509
1830+a, cdbSNP:148915522
1834+c, tdbSNP:2858030
1850+a, gdbSNP:35748957
1863..1864+, ctdbSNP:376618003
1884+c, gdbSNP:369255499
1899+a, gdbSNP:142267839
1906+g, tdbSNP:372585286
1909+, cdbSNP:35013574
1919+a, gdbSNP:377079102
1937+c, tdbSNP:180889406
1983+c, tdbSNP:369931493
2062+c, gdbSNP:372332007
2077+, cdbSNP:199630465
2083+g, tdbSNP:75522553
2083+, tdbSNP:34564851
2090+c, tdbSNP:113495398
2096+c, tdbSNP:115237552
2104+c, tdbSNP:62272677
2131+a, gdbSNP:151250727
2159..2160+, gdbSNP:201887908
2176+c, tdbSNP:140475379
2213+c, g, tdbSNP:11542616
2224+c, tdbSNP:200027105
2271+c, tdbSNP:61163173
2298+c, tdbSNP:1054661
complement(2307)-g, adbSNP:2699414
2322+c, tdbSNP:374728710
2379+c, tdbSNP:112841601
2383+a, gdbSNP:184956838
2415+c, tdbSNP:2252054
2421+a, gdbSNP:372542718
2434+g, tdbSNP:190903828
2467+c, tdbSNP:10937930
2504+a, gdbSNP:138389951
2507+a, gdbSNP:1054662
2529..2532+, tgttdbSNP:146159989
2532..2535+, ttgtdbSNP:370388494
2562+c, tdbSNP:2105849
Gene SymbolDOK7
Gene SynonymC4orf25; CMS1B
Chromosome4
Locus Map4p16.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. On-demand $219.00 7-9
Title Discovery and refinement of loci associated with lipid levels .
Author Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R, Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K, Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson PK, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ, Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney AS, Doring A, Elliott P, Epstein SE, Eyjolfsson GI, Gigante B, Goodarzi MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu P, Kastelein JJ, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos RJ, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G, Nagaraja R, Narisu N, Nieminen TV, Nsubuga RN, Olafsson I, Ong KK, Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP, Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH, Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier M, Campbell H, Chakravarti A, Chambers JC, Chen YD, Collins FS, Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V, Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN, Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K, Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A, Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J, Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L, Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D, Salomaa V, Sanghera DK, Saramies J, Schwarz PE, Sheu WH, Shuldiner AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO, Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P, Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BH, Ordovas JM, Boerwinkle E, Palmer CN, Thorsteinsdottir U, Chasman DI, Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and Abecasis GR.
Journal Nat. Genet. 45 (11), 1274-1283 (2013)
Title DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children .
Author Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D and Robb SA.
Journal Neuromuscul. Disord. 23 (11), 883-891 (2013)
Title Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation .
Author Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmuller H and Werneck LC.
Journal J. Neurol. Sci. 331 (1-2), 155-157 (2013)
Title DOK7 congenital myasthenic syndrome .
Author Palace J.
Journal Ann. N. Y. Acad. Sci. 1275, 49-53 (2012)
Title The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization .
Author Bergamin E, Hallock PT, Burden SJ and Hubbard SR.
Journal Mol. Cell 39 (1), 100-109 (2010)
Title Clinical features of the DOK7 neuromuscular junction synaptopathy .
Author Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y and Beeson D.
Journal Brain 130 (PT 6), 1507-1515 (2007)
Title Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes .
Author Muller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aarimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A and Lochmuller H.
Journal Brain 130 (PT 6), 1497-1506 (2007)
Title Dok-7 mutations underlie a neuromuscular junction synaptopathy .
Author Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A and Yamanashi Y.
Journal Science 313 (5795), 1975-1978 (2006)
Title The muscle protein Dok-7 is essential for neuromuscular synaptogenesis .
Author Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, Kubo S, Shiraishi H, Eguchi K, Motomura M, Akiyama T, Iwakura Y, Higuchi O and Yamanashi Y.
Journal Science 312 (5781), 1802-1805 (2006)
Title Congenital Myasthenic Syndromes .
Author Abicht,A., Muller,J. and Lochmuller,H.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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