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Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_153033 Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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RefSeq Version NM_153033.4, 319803087
Length 5051 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.
Product BTB/POZ domain-containing protein KCTD7 isoform 1
Comment

Summary: This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011].


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


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.


##Evidence-Data-START## Transcript exon combination :: AK056631.1, BU902852.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025083 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_694578.1
CDS 185..1054
Misc Feature(1)119..121
Misc Feature(2)341..598
Misc Feature(3)341..598
Misc Feature(4)668..670
Misc Feature(5)671..673
Exon (1)1..328
Gene:KCTD7
Gene Synonym:CLN14; EPM3
Exon (2)329..498
Gene:KCTD7
Gene Synonym:CLN14; EPM3
Exon (3)499..677
Gene:KCTD7
Gene Synonym:CLN14; EPM3
Exon (4)678..5051
Gene:KCTD7
Gene Synonym:CLN14; EPM3
Translation MVVVTGREPDSRRQDGAMSSSDAEDDFLEPATPTATQAGHALPLLPQEFPEVVPLNIGGA HFTTRLSTLRCYEDTMLAAMFSGRHYIPTDSEGRYFIDRDGTHFGDVLNFLRSGDLPPRE RVRAVYKEAQYYAIGPLLEQLENMQPLKGEKVRQAFLGLMPYYKDHLERIVEIARLRAVQ RKARFAKLKVCVFKEEMPITPYECPLLNSLRFERSESDGQLFEHHCEVDVSFGPWEAVAD VYDLLHCLVTDLSAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW
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Position Chain Variation Link
15+dbSNP:
15+a, gdbSNP:191169882
141+a, gdbSNP:35526611
374+dbSNP:
374+a, gdbSNP:201296399
376+a, gdbSNP:142526573
377+c, tdbSNP:200321023
409+c, gdbSNP:150589535
410+a, gdbSNP:200569899
411+c, tdbSNP:138642014
423+c, tdbSNP:202167686
435+a, gdbSNP:200575329
440+c, tdbSNP:149255570
441+a, gdbSNP:188483031
451+c, tdbSNP:3764904
457+c, tdbSNP:139585796
479+c, tdbSNP:267607199
497..498+, cdbSNP:35686816
526+dbSNP:
526+a, gdbSNP:145152329
545+c, tdbSNP:199604642
546+g, tdbSNP:199624315
568+a, gdbSNP:145238250
571+c, tdbSNP:140932942
691+dbSNP:
691+c, gdbSNP:142379946
701+a, cdbSNP:200907176
798+c, tdbSNP:151338966
800+c, gdbSNP:140600524
804+g, tdbSNP:199965432
838+c, tdbSNP:117194263
883+a, gdbSNP:201990302
938+c, tdbSNP:200652879
943+a, gdbSNP:146540578
977+a, gdbSNP:200415747
1011+a, gdbSNP:141191660
1019+c, tdbSNP:145063728
1063+g, tdbSNP:116630203
1156+g, tdbSNP:149123496
1205+a, gdbSNP:113446781
1270+a, gdbSNP:77341088
1275+g, tdbSNP:151151235
1482+a, gdbSNP:112519625
1545+c, gdbSNP:193112230
1551+a, gdbSNP:140079891
1744+c, gdbSNP:4718382
1762+c, tdbSNP:79736939
1934+c, tdbSNP:117143942
1998+c, gdbSNP:9791712
2033+a, cdbSNP:9791713
2126+c, tdbSNP:185563689
2452+a, tdbSNP:73375381
2641+c, tdbSNP:190087991
2673+a, gdbSNP:115778754
2690+c, gdbSNP:145203478
2781+c, gdbSNP:17229513
2804+c, tdbSNP:55764000
2841+a, gdbSNP:193077495
2893+c, tdbSNP:137946765
2959+c, tdbSNP:140852358
2969+c, tdbSNP:200280184
2980+a, gdbSNP:117267079
2994+, adbSNP:139202760
3063+a, gdbSNP:184129807
3133+c, tdbSNP:145112692
3134+a, gdbSNP:73702140
3191+c, tdbSNP:138958447
3584+a, gdbSNP:188529052
3710+c, tdbSNP:1860469
3716+a, gdbSNP:4565357
3762+c, tdbSNP:181035235
3859+a, gdbSNP:1267818
3906+c, gdbSNP:149443387
4013+c, tdbSNP:185120966
4042+a, gdbSNP:118004760
4087+a, gdbSNP:1860468
4292+a, gdbSNP:144828027
4479+a, gdbSNP:148095742
4604+a, gdbSNP:147233246
4666+c, tdbSNP:35633983
4806+c, gdbSNP:73133851
4820+c, gdbSNP:140826808
4880+c, gdbSNP:182211775
4932+a, gdbSNP:187290181
4985..4986+, cadbSNP:202180906
4988..4990+, acadbSNP:140513764
4989..4991+, ttgdbSNP:35961913
4990+, acadbSNP:10601698
5015+c, tdbSNP:144713969
5045+c, gdbSNP:147205609
Gene SymbolKCTD7
Gene SynonymCLN14; EPM3
Chromosome7
Locus Map7q11.21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001167961 Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 2, mRNA. On-demand $449.00 14
NM_153033 Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA. On-demand $449.00 14
Title A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system .
Author Staropoli,J.F., Karaa,A., Lim,E.T., Kirby,A., Elbalalesy,N., Romansky,S.G., Leydiker,K.B., Coppel,S.H., Barone,R., Xin,W., MacDonald,M.E., Abdenur,J.E., Daly,M.J., Sims,K.B. and Cotman,S.L.
Journal Am. J. Hum. Genet. 91 (1), 202-208 (2012)
Title Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene .
Author Kousi,M., Anttila,V., Schulz,A., Calafato,S., Jakkula,E., Riesch,E., Myllykangas,L., Kalimo,H., Topcu,M., Gokben,S., Alehan,F., Lemke,J.R., Alber,M., Palotie,A., Kopra,O. and Lehesjoki,A.E.
Journal J. Med. Genet. 49 (6), 391-399 (2012)
Title Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study .
Author Wineinger,N.E., Patki,A., Meyers,K.J., Broeckel,U., Gu,C.C., Rao,D.C., Devereux,R.B., Arnett,D.K. and Tiwari,H.K.
Journal BMC Med Genomics 4, 4 (2011)
Title Mutation of a potassium channel-related gene in progressive myoclonic epilepsy .
Author Van Bogaert,P., Azizieh,R., Desir,J., Aeby,A., De Meirleir,L., Laes,J.F., Christiaens,F. and Abramowicz,M.J.
Journal Ann. Neurol. 61 (6), 579-586 (2007)
Title Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes .
Author Choy,K.W., Wang,C.C., Ogura,A., Lau,T.K., Rogers,M.S., Ikeo,K., Gojobori,T., Lam,D.S. and Pang,C.P.
Journal Physiol. Genomics 25 (1), 9-15 (2006)


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