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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

Related Services

RefSeq Version NM_018100.3, 156616291
Length 5596 bp
Structure linear
Update Date 03-MAY-2014
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; EJM1
Exon (2)279..500
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (3)501..788
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (4)789..938
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (5)939..1131
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (6)1132..1352
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (7)1353..1493
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (8)1494..1707
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (9)1708..1855
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (10)1856..2066
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Exon (11)2067..5582
Gene:EFHC1
Gene Synonym:dJ304B14.2; EJM1
Translation MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
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Position Chain Variation Link
complement(21)-dbSNP:
complement(21)-t, cdbSNP:2296196
51+a, tdbSNP:113053862
54+c, tdbSNP:41273738
68..69+, gcdbSNP:58685840
137+g, tdbSNP:114013470
171+a, cdbSNP:371274171
177+c, tdbSNP:377482986
180+a, cdbSNP:371233375
183+a, tdbSNP:201999048
199+c, tdbSNP:374673608
216+a, gdbSNP:201520866
237+c, gdbSNP:200510672
240+c, tdbSNP:149315015
269+g, tdbSNP:146467751
274+c, tdbSNP:147882603
291+dbSNP:
291+c, tdbSNP:375322518
304+c, tdbSNP:200435907
305+a, gdbSNP:140429638
312+c, tdbSNP:374402088
317+a, gdbSNP:374661532
337+a, gdbSNP:202095470
355+a, tdbSNP:368839861
359+c, tdbSNP:372240827
366+c, tdbSNP:374661645
375+c, tdbSNP:370815762
425+a, gdbSNP:145367062
441+c, tdbSNP:11552772
444+a, cdbSNP:149055334
464+a, gdbSNP:149627167
478+c, tdbSNP:145102896
520+dbSNP:
520+a, gdbSNP:368992606
523+g, tdbSNP:112707119
524+c, tdbSNP:150739716
548+c, tdbSNP:371542229
559+a, gdbSNP:371610025
565+c, tdbSNP:201616140
616+c, tdbSNP:376050123
666+c, tdbSNP:200375854
667+g, tdbSNP:191656603
672+c, tdbSNP:373625101
690+a, c, gdbSNP:3804506
699+c, tdbSNP:112800954
708+c, tdbSNP:376746879
735+a, gdbSNP:137852779
741+a, gdbSNP:369777400
759+c, tdbSNP:200191497
760+c, tdbSNP:386586705
761+c, tdbSNP:377349630
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
861+c, tdbSNP:377165334
862+a, gdbSNP:77682973
876+c, tdbSNP:139197513
877+a, gdbSNP:79761183
889+c, tdbSNP:267601073
900+c, tdbSNP:137852776
908+a, cdbSNP:375014511
946+dbSNP:
946+a, gdbSNP:140476054
972+g, tdbSNP:137852778
976+a, gdbSNP:144739917
977+c, tdbSNP:375851193
991+a, gdbSNP:137852780
994+a, gdbSNP:145754721
1004+c, tdbSNP:148936911
1030+c, tdbSNP:143655397
1032+g, tdbSNP:369926953
1057+a, gdbSNP:151126903
1069+a, 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
1127+c, tdbSNP:373638109
1131+a, gdbSNP:201263733
1161+dbSNP:
1161+g, tdbSNP:144708524
1182+c, tdbSNP:138430643
1194+a, gdbSNP:149256861
1232+a, gdbSNP:144447906
1244+c, tdbSNP:377235781
1269+c, tdbSNP:201118016
1273+a, gdbSNP:377732929
1274+a, gdbSNP:200024100
1284+a, gdbSNP:505760
1284+c, tdbSNP:386443970
1305+a, tdbSNP:143751828
1329+c, tdbSNP:371151471
1370+dbSNP:
1370+c, tdbSNP:115913738
1409+c, tdbSNP:201946033
1439+c, tdbSNP:116134831
1439+c, tdbSNP:386442836
1476+c, tdbSNP:144389178
1521+dbSNP:
1521+c, tdbSNP:377286138
1557+a, gdbSNP:368766844
1558+c, tdbSNP:1266787
1584+c, tdbSNP:373196171
1585+g, tdbSNP:369468811
1600+c, tdbSNP:200116252
1611+g, tdbSNP:373042342
1624+c, gdbSNP:201129694
1658+c, gdbSNP:186911667
1666+a, gdbSNP:201261630
1678+c, gdbSNP:376265750
1712+dbSNP:
1712+c, tdbSNP:374205060
1738+c, tdbSNP:200328198
1742+c, tdbSNP:368238981
1762+a, tdbSNP:372520849
1800+a, gdbSNP:139302751
1802+a, gdbSNP:377227885
1827+c, tdbSNP:149998588
1848+a, gdbSNP:146351342
1880+dbSNP:
1880+c, tdbSNP:369201702
1890+c, tdbSNP:145194882
1923+c, tdbSNP:9463791
1946+c, tdbSNP:200287561
1953+c, tdbSNP:376063510
1980+a, gdbSNP:201197637
2027+a, cdbSNP:369503191
2029+c, tdbSNP:373267174
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
2176+a, gdbSNP:370296690
2177..2178+, cdbSNP:35057388
2182+a, gdbSNP:374687363
2196+a, cdbSNP:1062856
2211+, tdbSNP:375595303
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
3162+c, tdbSNP:372975445
3165+a, cdbSNP:190868766
3167+a, cdbSNP:182187034
3178..3183+, tatattdbSNP:148993950
3182..3183+, a, atatatatatata, atatatatatatatatatatatatdbSNP:59794069
3182..3183+, atat, atatatdbSNP:386358998
3182..3183+, ttdbSNP:397518230
3183..3184+, adbSNP:60720755
3183+a, tdbSNP:112794529
3184..3185+, tdbSNP:67536928
3318+a, gdbSNP:4455668
3341+c, tdbSNP:145755257
3453..3454+, adbSNP:35994917
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+a, tdbSNP:112165693
3887..3888+, ac, cadbSNP:58779695
3940+a, gdbSNP:116513025
3940+a, gdbSNP:386469150
3945..3946+, adbSNP:201262358
complement(3961)-t, cdbSNP: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
5056+c, tdbSNP:377752067
5110+c, gdbSNP:9367485
complement(5122)-c, adbSNP:149842249
5151+c, tdbSNP:145857244
5257+c, tdbSNP:193024363
complement(5282)-t, adbSNP:3789772
complement(5330)-t, cdbSNP:3789771
5380+g, tdbSNP:199792377
5384+c, tdbSNP:74377102
5402+c, tdbSNP:184831590
5417..5418+, adbSNP:374561436
5452+c, gdbSNP:188142353
5544+a, gdbSNP:386484681
5544+c, tdbSNP:6919266
Gene SymbolEFHC1
Gene SynonymdJ304B14.2; EJM1
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 Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1 .
Author de Nijs L, Wolkoff N, Grisar T and Lakaye B.
Journal Epilepsy Behav 28 (SUPPL 1), S58-S60 (2013)
Title The quest for juvenile myoclonic epilepsy genes .
Author Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT and Duron RM.
Journal Epilepsy Behav 28 (SUPPL 1), S52-S57 (2013)
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 AV, 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 IE, Ochoa A, Gonzalez VM, Fernandez-Gonzalez-Aragon Mdel C, Lopez-Ruiz M, Medina MT, Bailey JN, Delgado-Escueta AV and Alonso ME.
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 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 AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, 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 MR, Heils A, Becker C, Nurnberg P, Sander
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 TF, Volz A, Schmitz B, Beck-Mannagetta G, Riess O, Epplen JT, Janz
Journal Neurology 49 (3), 842-847 (1997)
Title Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations .
Author Liu AW, Delgado-Escueta AV, Gee MN, Serratosa JM, Zhang QW, Alonso ME, Medina MT, Cordova S, Zhao HZ, Spellman JM, Donnadieu FR, Peek JR, Treiman LJ and Sparkes RS.
Journal Am. J. Med. Genet. 63 (3), 438-446 (1996)

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