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


RefSeq Accession Definition Sequence Price Select
NM_018100 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. Full Lenth $2518.20
ORF Sequence $557.67


RefSeq Version NM_018100.3, 156616291
Length 5596 bp
Structure linear
Update Date 10-APR-2011
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].


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

RefSeq NP_060570.2
CDS 216..2138
Exon (1)1..278
Exon (2)1..278
Exon (3)279..500
Exon (4)501..788
Exon (5)789..938
Exon (6)939..1131
Exon (7)1132..1352
Exon (8)1353..1493
Exon (9)1494..1707
Exon (10)1708..1855
Exon (11)1856..2066
Exon (12)2067..5582
Translation MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
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Position Chain Variation Link
complement(21)-t, cdbSNP:2296196
51+a, tdbSNP:113053862
54+c, tdbSNP:41273738
70+, gcdbSNP:58685840
137+g, tdbSNP:114013470
441+c, tdbSNP:11552772
523+g, tdbSNP:112707119
complement(690)-g, c, adbSNP:3804506
699+c, tdbSNP:112800954
complement(760)-t, g, c, adbSNP:3804505
828+a, gdbSNP:55643206
844+a, tdbSNP:73740379
862+a, gdbSNP:77682973
866+a, cdbSNP:78973499
877+a, gdbSNP:79761183
1069+g, tdbSNP:17851771
complement(1096)-t, cdbSNP:1570624
1102+a, gdbSNP:115205076
1113+c, gdbSNP:73740380
1284+a, gdbSNP:505760
1370+c, tdbSNP:115913738
1439+c, tdbSNP:116134831
1558+c, tdbSNP:1266787
1923+c, tdbSNP:9463791
1924+c, tdbSNP:77113818
2035+a, gdbSNP:115475262
2070+a, cdbSNP:17851770
2108+c, tdbSNP:35648306
2177..2178+, cdbSNP:35057388
2196+a, cdbSNP:1062856
2259+a, cdbSNP:7757370
2278+c, tdbSNP:78906153
2429+a, gdbSNP:3177234
2530+a, cdbSNP:9463792
2606+a, gdbSNP:114570177
2615+g, tdbSNP:115035804
2830+a, gdbSNP:112518124
3009+c, gdbSNP:78956562
3019+a, tdbSNP:6926242
3034+c, tdbSNP:112311115
3163..3164+, atatatatatatatatatatatatdbSNP:72024374
3182..3183+, atatatatatata, atatatatatatatatatatatatdbSNP:59794069
3183..3184+, a, atatdbSNP:60720755
3183+a, tdbSNP:112794529
3184..3185+, tdbSNP:67536928
3318+a, gdbSNP:4455668
3452..3453+, adbSNP:35994917
3455..3456+, adbSNP:71970738
3474+a, gdbSNP:74543871
3619..3620+, cdbSNP:35524067
3628+a, cdbSNP:2397092
3716..3717+, cdbSNP:34588405
3725+c, gdbSNP:1057469
3830..3831+, cdbSNP:34552793
3886..3887+, ac, cadbSNP:77236493
3886+a, tdbSNP:112165693
3887..3888+, acdbSNP:113591863
3887..3888+, ac, cadbSNP:58779695
3888..3889+, acdbSNP:66588935
3940+a, gdbSNP:116513025
4302+a, gdbSNP:59722297
4481+c, gdbSNP:77875583
4557+a, gdbSNP:9474228
4965+a, gdbSNP:115236787
5029+c, gdbSNP:76476971
5110+c, gdbSNP:9367485
5257+c, tdbSNP:116368845
complement(5282)-t, adbSNP:3789772
complement(5330)-t, cdbSNP:3789771
5380+g, tdbSNP:79847138
5384+c, tdbSNP:74377102
5385+g, tdbSNP:76520645
5391+g, tdbSNP:118080951
5544+c, tdbSNP:6919266
Gene SymbolEFHC1
Gene SynonymdJ304B14.2; FLJ10466; FLJ37290
Chromosome6
Locus Map6p12.3
All Transcripts NM_018100 , NM_001172420
Title Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score .
Author Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R.
Journal Mol. Med. 16 (7-8), 247-253 (2010)
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 DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy .
Author Bai,D., Bailey,J.N., Duron,R.M., Alonso,M.E., Medina,M.T., Martinez-Juarez,I.E., Suzuki,T., Machado-Salas,J., Ramos-Ramirez,R., Tanaka,M., Ortega,R.H., Lopez-Ruiz,M., Rasmussen,A., Ochoa,A., Jara-Prado,A., Yamakawa,K. and Delgado-Escueta,A.V.
Journal Epilepsia 50 (5), 1184-1190 (2009)
Title Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility .
Author Suzuki,T., Miyamoto,H., Nakahari,T., Inoue,I., Suemoto,T., Jiang,B., Hirota,Y., Itohara,S., Saido,T.C., Tsumoto,T., Sawamoto,K., Hensch,T.K., Delgado-Escueta,A.V. and Yamakawa,K.
Journal Hum. Mol. Genet. 18 (6), 1099-1109 (2009)
Title Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand .
Author Murai,M.J., Sassonia,R.C., Zamboni,A.H., Conte,F.F., Martins-de-Souza,D., Aparicio,R., de Oliveira,M.G. and Lopes-Cendes,I.
Journal Arch. Biochem. Biophys. 477 (1), 131-138 (2008)
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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