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Database:

Blast Method:

 
 


Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_018100 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

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RefSeq Version NM_018100.3, 156616291
Length 5596 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.
Product EF-hand domain-containing protein 1 isoform 1
Comment

Summary: This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010].


Transcript Variant: This variant (A) encodes the longer isoform (1).

RefSeq NP_060570.2
CDS 216..2138
Misc Feature(1)189..191
Misc Feature(2)492..809
Misc Feature(3)492..809
Misc Feature(4)930..1292
Misc Feature(5)1461..1775
Misc Feature(6)1950..2132
Misc Feature(7)1965..2129
Misc Feature(8)order(1974..1976,1980..1982,1986..1988,2007..2009,
Exon (1)1..278
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (2)279..500
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (3)501..788
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (4)789..938
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (5)939..1131
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (6)1132..1352
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (7)1353..1493
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (8)1494..1707
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (9)1708..1855
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (10)1856..2066
Gene:EFHC1
Gene Synonym:dJ304B14.2
Exon (11)2067..5582
Gene:EFHC1
Gene Synonym:dJ304B14.2
Translation MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
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Position Chain Variation Link
21+dbSNP:
21+c, tdbSNP:2296196
51+a, tdbSNP:113053862
54+c, tdbSNP:41273738
68..69+, gcdbSNP:142489544
68+, gcdbSNP:58685840
137+g, tdbSNP:114013470
183+a, tdbSNP:201999048
216+a, gdbSNP:201520866
237+c, gdbSNP:200510672
240+c, tdbSNP:149315015
269+g, tdbSNP:146467751
274+c, tdbSNP:147882603
304+dbSNP:
304+c, tdbSNP:200435907
305+a, gdbSNP:140429638
337+a, gdbSNP:202095470
425+a, gdbSNP:145367062
441+c, tdbSNP:11552772
444+a, cdbSNP:149055334
464+a, gdbSNP:149627167
478+c, tdbSNP:145102896
523+dbSNP:
523+g, tdbSNP:112707119
524+c, tdbSNP:150739716
565+c, tdbSNP:201616140
666+c, tdbSNP:200375854
667+g, tdbSNP:191656603
690+a, c, gdbSNP:3804506
699+c, tdbSNP:112800954
735+a, gdbSNP:137852779
759+c, tdbSNP:200191497
760+c, tdbSNP:3804505
774+a, gdbSNP:148615781
828+dbSNP:
828+a, gdbSNP:55643206
842+c, tdbSNP:141142186
843+a, gdbSNP:137852777
844+a, tdbSNP:73740379
852+a, gdbSNP:201379297
858+c, tdbSNP:138718922
862+a, gdbSNP:77682973
876+c, tdbSNP:139197513
877+a, gdbSNP:79761183
900+c, tdbSNP:137852776
946+dbSNP:
946+a, gdbSNP:140476054
972+g, tdbSNP:137852778
976+a, gdbSNP:144739917
991+a, gdbSNP:137852780
994+a, gdbSNP:145754721
1004+c, tdbSNP:148936911
1030+c, tdbSNP:143655397
1057+a, gdbSNP:151126903
1069+g, tdbSNP:17851771
1095+c, tdbSNP:201543041
1096+c, tdbSNP:1570624
1098+c, tdbSNP:137852781
1101+c, tdbSNP:199814370
1102+a, gdbSNP:115205076
1111+a, g, tdbSNP:138973203
1113+c, gdbSNP:73740380
1126+a, gdbSNP:142107827
1131+a, gdbSNP:201263733
1161+dbSNP:
1161+g, tdbSNP:144708524
1182+c, tdbSNP:138430643
1194+a, gdbSNP:149256861
1232+a, gdbSNP:144447906
1269+c, tdbSNP:201118016
1274+a, gdbSNP:200024100
1284+a, gdbSNP:505760
1305+a, tdbSNP:143751828
1370+dbSNP:
1370+c, tdbSNP:115913738
1409+c, tdbSNP:201946033
1439+c, tdbSNP:116134831
1476+c, tdbSNP:144389178
1558+dbSNP:
1558+c, tdbSNP:1266787
1600+c, tdbSNP:200116252
1624+c, gdbSNP:201129694
1658+c, gdbSNP:186911667
1666+a, gdbSNP:201261630
1738+dbSNP:
1738+c, tdbSNP:200328198
1800+a, gdbSNP:139302751
1827+c, tdbSNP:149998588
1848+a, gdbSNP:146351342
1890+dbSNP:
1890+c, tdbSNP:145194882
1923+c, tdbSNP:9463791
1946+c, tdbSNP:200287561
1980+a, gdbSNP:201197637
2035+a, gdbSNP:115475262
2051+c, tdbSNP:137869409
2070+dbSNP:
2070+a, cdbSNP:17851770
2071+g, tdbSNP:142458862
2101+c, tdbSNP:199604518
2108+c, tdbSNP:35648306
2177..2178+, cdbSNP:35057388
2196+a, cdbSNP:1062856
2237+a, tdbSNP:151292895
2259+a, cdbSNP:7757370
2278+a, c, tdbSNP:78906153
2429+a, gdbSNP:3177234
2469+c, tdbSNP:140558732
2530+a, cdbSNP:9463792
2606+a, gdbSNP:114570177
2615+g, tdbSNP:115035804
2706+a, gdbSNP:181316173
2830+a, gdbSNP:112518124
3009+c, gdbSNP:78956562
3019+a, tdbSNP:6926242
3034+c, tdbSNP:112311115
3040+c, gdbSNP:147096778
3157+a, cdbSNP:137988837
3160..3167+, tacatatadbSNP:201289370
3162..3163+, atatdbSNP:150550566
3163..3164+, atatatatatatatatatatatatdbSNP:72024374
3165+a, cdbSNP:190868766
3167+a, cdbSNP:182187034
3178..3183+, tatattdbSNP:148993950
3182..3183+, a, atatatatatata, atatatatatatatatatatatat, ttdbSNP:59794069
3182..3183+, tdbSNP:67536928
3183..3184+, a, atatdbSNP:60720755
3183+a, tdbSNP:112794529
3318+a, gdbSNP:4455668
3341+c, tdbSNP:145755257
3452..3453+, adbSNP:35994917
3453..3454+, adbSNP:71970738
3463..3464+, adbSNP:200157745
3474+a, gdbSNP:74543871
3619..3620+, cdbSNP:35524067
3628+a, cdbSNP:2397092
3650+a, gdbSNP:138385203
3716..3717+, cdbSNP:34588405
3725+c, gdbSNP:1057469
3830..3831+, cdbSNP:34552793
3886..3887+, ac, cadbSNP:77236493
3886..3887+, cadbSNP:139285397
3886+a, tdbSNP:112165693
3887..3888+, ac, cadbSNP:58779695
3888..3889+, acdbSNP:66588935
3940+a, gdbSNP:116513025
3945..3946+, adbSNP:201262358
3961+c, tdbSNP:144629373
4014+g, tdbSNP:148070071
4147+c, tdbSNP:188024400
4257+a, gdbSNP:190998325
4302+a, gdbSNP:59722297
4338+c, gdbSNP:183196029
4454+c, tdbSNP:142539862
4481+c, gdbSNP:77875583
4525+a, gdbSNP:146014466
4557+a, gdbSNP:9474228
4632+a, gdbSNP:139612360
4691+a, gdbSNP:144304746
4715+c, tdbSNP:139703274
4817+c, tdbSNP:188379710
4965+a, gdbSNP:115236787
5110+c, gdbSNP:9367485
5122+a, cdbSNP:149842249
5151+c, tdbSNP:145857244
5257+c, tdbSNP:193024363
5282+a, tdbSNP:3789772
5330+c, tdbSNP:3789771
5380+g, tdbSNP:199792377
5384+c, tdbSNP:74377102
5402+c, tdbSNP:184831590
5452+c, gdbSNP:188142353
5544+c, tdbSNP:6919266
Gene SymbolEFHC1
Gene SynonymdJ304B14.2
Chromosome6
Locus Map6p12.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001172420 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA. On-demand $849.00 20
NM_018100 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. On-demand $849.00 20
Title Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development .
Author de Nijs,L., Wolkoff,N., Coumans,B., Delgado-Escueta,A.V., Grisar,T. and Lakaye,B.
Journal Hum. Mol. Genet. 21 (23), 5106-5117 (2012)
Title Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy .
Author Jara-Prado,A., Martinez-Juarez,I.E., Ochoa,A., Gonzalez,V.M., Fernandez-Gonzalez-Aragon Mdel,C., Lopez-Ruiz,M., Medina,M.T., Bailey,J.N., Delgado-Escueta,A.V. and Alonso,M.E.
Journal Seizure 21 (7), 550-554 (2012)
Title Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene .
Author Berger,I., Dor,T., Halvardson,J., Edvardson,S., Shaag,A., Feuk,L. and Elpeleg,O.
Journal Epilepsia 53 (8), 1436-1440 (2012)
Title The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death .
Author Katano,M., Numata,T., Aguan,K., Hara,Y., Kiyonaka,S., Yamamoto,S., Miki,T., Sawamura,S., Suzuki,T., Yamakawa,K. and Mori,Y.
Journal Cell Calcium 51 (2), 179-185 (2012)
Title Human variation in alcohol response is influenced by variation in neuronal signaling genes .
Author Joslyn,G., Ravindranathan,A., Brush,G., Schuckit,M. and White,R.L.
Journal Alcohol. Clin. Exp. Res. 34 (5), 800-812 (2010)
Title Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG .
Author Norberg,A., Forsgren,L., Holmberg,D. and Holmberg,M.
Journal Neurosci. Lett. 396 (2), 137-142 (2006)
Title Mutations in EFHC1 cause juvenile myoclonic epilepsy .
Author Suzuki,T., Delgado-Escueta,A.V., Aguan,K., Alonso,M.E., Shi,J., Hara,Y., Nishida,M., Numata,T., Medina,M.T., Takeuchi,T., Morita,R., Bai,D., Ganesh,S., Sugimoto,Y., Inazawa,J., Bailey,J.N., Ochoa,A., Jara-Prado,A., Rasmussen,A., Ramos-Peek,J., Cordova,S., Rubio-Donnadieu,F., Inoue,Y., Osawa,M., Kaneko,S., Oguni,H., Mori,Y. and Yamakawa,K.
Journal Nat. Genet. 36 (8), 842-849 (2004)
Title Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy .
Author Izzi,C., Barbon,A., Toliat,M.R., Heils,A., Becker,C., Nurnberg,P., Sander,T. and Barlati,S.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 123B (1), 59-63 (2003)
Title Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 .
Author Sander,T., Bockenkamp,B., Hildmann,T., Blasczyk,R., Kretz,R., Wienker,T.F., Volz,A., Schmitz,B., Beck-Mannagetta,G., Riess,O., Epplen,J.T., Janz,D. and Ziegler,A.
Journal Neurology 49 (3), 842-847 (1997)
Title Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations .
Author Liu,A.W., Delgado-Escueta,A.V., Gee,M.N., Serratosa,J.M., Zhang,Q.W., Alonso,M.E., Medina,M.T., Cordova,S., Zhao,H.Z., Spellman,J.M., Donnadieu,F.R., Peek,J.R., Treiman,L.J. and Sparkes,R.S.
Journal Am. J. Med. Genet. 63 (3), 438-446 (1996)


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