×

EFHC1 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol EFHC1
Entrez Gene ID 114327
Full Name EF-hand domain containing 1
Synonyms EJM1,dJ304B14.2
General protein information
Preferred Names

EF-hand domain containing 1

Names

EF-hand domain-containing protein 1
EF-hand domain (C-terminal) containing 1
myoclonin-1

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

6

6p12.2

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].
Disorder MIM:

608815

Disorder Html: {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);

mRNA and Protein(s)

mRNA Protein Name
NM_001172420.1 NP_001165891.1 EF-hand domain-containing protein 1 isoform 2
NM_018100.3 NP_060570.2 EF-hand domain-containing protein 1 isoform 1



Gallus gallus (chicken) EFHC1 XP_420047.2
Rattus norvegicus (Norway rat) Efhc1 NP_001116419.2
Anopheles gambiae (African malaria mosquito) AgaP_AGAP003805 XP_310360.7
Homo sapiens (human) EFHC1 NP_060570.2
Pan troglodytes (chimpanzee) EFHC1 XP_001152433.1
Canis lupus familiaris (dog) EFHC1 XP_005627529.1
Macaca mulatta (rhesus monkey) EFHC1 XP_001107470.1
Mus musculus (house mouse) Efhc1 NP_082250.1
Danio rerio (zebrafish) efhc1 NP_957261.1
Bos taurus (cattle) EFHC1 NP_001179173.1
Xenopus tropicalis (tropical clawed frog) efhc1 NP_001008106.1


Related articles in PubMed

Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovács IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barabási AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M
Cell161(3)647-660(2015 Apr)

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL, Conte JM, Stewart WC, Greenberg DA
Epilepsia56(2)188-94(2015 Feb)

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
de Nijs L, Wolkoff N, Grisar T, Lakaye B
Epilepsy & behavior : E&B28 Suppl 1S58-60(2013 Jul)

The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM
Epilepsy & behavior : E&B28 Suppl 1S52-7(2013 Jul)

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B
Human molecular genetics21(23)5106-17(2012 Dec)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy
Title: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.

Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.
Title: Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.

Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy.
Title: The quest for juvenile myoclonic epilepsy genes.

These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established.
Title: Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.

we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients.
Title: Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

The following EFHC1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the EFHC1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

Online Only Promotion

Up to 50% OFF! Starting
from $49/clone

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu08059 NM_001172420.1
Latest version!
Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant C, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
OHu19655 NM_018100.3
Latest version!
Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant A, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $265.30
$379.00

ORF Online Only Promotion

Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu08059
Clone ID Related Accession (Same CDS sequence) NM_001172420.1
Accession Version NM_001172420.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1866bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-22
Organism Homo sapiens(Human)
Product EF-hand domain-containing protein 1 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK297632.1, EU520261.1, AY608689.1, AL049611.24 and BQ268404.1. Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant A. The encoded isoform (2) has a distinct N-terminus and is shorter than 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK297632.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGTTGAAAA CAGCCTTCCA CAGAAGTCAG ACGCTGAGCT ACAGGAACGG CTATGCAATT 
GTTCGACGTC CAACAGTTGG GATAGGCGGA GACCGGCTCC AGTTCAACCA GCTGTCCCAG
GCTGAGCTGG ATGAGTTGGC CAGTAAGGCA CCAGTCTTAA CTTATGGCCA ACCTAAACAA
GCCCCACCTG CGGATTTTAT TCCTGCGCAT GTGGCCTTTG ACAAAAAGGT ACTGAAATTT
GATGCCTATT TCCAAGAAGA TGTTCCTATG TCAACTGAGG AACAGTATAG GATCCGTCAG
GTGAACATTT ACTATTATCT AGAAGATGAC AGCATGTCTG TCATAGAGCC TGTTGTAGAA
AATTCTGGAA TCCTTCAAGG CAAGTTAATA AAACGCCAGC GGCTAGCCAA GAATGACCGG
GGTGACCATT ACCATTGGAA AGACCTAAAT CGAGGAATAA ACATCACAAT TTATGGCAAA
ACTTTCCGCG TTGTTGACTG TGACCAATTC ACACAGGTAT TTTTAGAAAG CCAAGGAATT
GAGTTAAATC CACCAGAGAA GATGGCTCTT GATCCTTACA CTGAACTCCG AAAACAGCCT
CTTCGTAAGT ATGTCACCCC ATCAGACTTT GATCAACTCA AGCAATTTCT CACCTTTGAC
AAACAGGTCC TTCGATTCTA TGCAATCTGG GATGATACAG ACAGCATGTA TGGTGAATGT
CGGACCTACA TCATTCATTA CTATCTTATG GATGATACGG TGGAAATTCG AGAGGTCCAC
GAACGGAATG ATGGGAGAGA TCCTTTCCCA CTCCTAATGA ACCGCCAGCG TGTGCCCAAA
GTTTTGGTGG AAAATGCAAA GAACTTCCCT CAGTGTGTGC TAGAAATCTC TGACCAAGAA
GTGTTGGAAT GGTATACTGC TAAAGACTTC ATTGTTGGGA AGTCACTCAC TATCCTTGGG
AGAACTTTCT TCATTTATGA TTGTGATCCA TTTACTCGAC GGTATTACAA AGAGAAGTTT
GGAATCACTG ATTTACCACG TATTGATGTG AGCAAGCGGG AACCACCTCC AGTAAAACAG
GAGTTGCCTC CTTATAACGG TTTTGGACTA GTGGAAGATT CTGCTCAGAA TTGTTTTGCT
CTCATTCCAA AAGCTCCAAA AAAAGACGTT ATTAAAATGC TGGTGAATGA TAACAAGGTG
CTTCGTTATT TGGCTGTACT GGAATCCCCC ATCCCAGAAG ACAAAGACCG CAGATTTGTC
TTCTCTTACT TTCTAGCTAC CGACATGATC AGTATCTTTG AGCCTCCTGT TCGCAATTCT
GGTATCATTG GGGGCAAGTA CCTTGGCAGG ACTAAAGTTG TTAAACCATA CTCTACAGTG
GACAACCCTG TCTACTATGG CCCCAGTGAC TTCTTCATTG GTGCTGTGAT TGAAGTGTTT
GGTCACCGGT TCATCATCCT TGATACAGAC GAGTATGTTT TGAAATACAT GGAGAGCAAC
GCTGCCCAGT ATTCACCAGA AGCACTCGCG TCAATTCAGA ACCATGTCCG AAAGCGAGAA
GCGCCTGCTC CAGAAGCAGA AAGCAAGCAA ACTGAAAAGG ATCCAGGCGT GCAGGAATTG
GAAGCATTAA TAGACACAAT TCAGAAGCAA CTGAAAGATC ACTCATGCAA AGACAACATT
CGTGAGGCAT TTCAAATTTA TGACAAGGAA GCTTCAGGAT ATGTGGACAG AGACATGTTC
TTTAAAATCT GTGAATCGCT TAACGTCCCA GTGGATGACT CCTTGGTTAA GGAGTTAATC
AGGATGTGCT CTCATGGAGA AGGCAAAATT AACTACTATA ACTTTGTTCG TGCTTTCTCA
AACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001165891.1
CDS185..2050
Misc Feature(1)119..121
Misc Feature(2)404..721
Misc Feature(3)491..586
Misc Feature(4)842..1204
Misc Feature(5)914..1015
Misc Feature(6)1373..1687
Misc Feature(7)1442..1540
Misc Feature(8)1862..2044
Misc Feature(9)1862..2041
Misc Feature(10)order(1886..1888,1892..1894,1898..1900,1919..1921,1997..1999,2003..2005,2024..2026)
Exon (1)1..62
Exon (2)63..190
Exon (3)191..412
Exon (4)413..700
Exon (5)701..850
Exon (6)851..1043
Exon (7)1044..1264
Exon (8)1265..1405
Exon (9)1406..1619
Exon (10)1620..1767
Exon (11)1768..1978
Exon (12)1979..5494
Translation

Target ORF information:

RefSeq Version NM_001172420.1
Organism Homo sapiens(Human)
Definition Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant C, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001172420.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
ATGTTGAAAA CAGCCTTCCA CAGAAGTCAG ACGCTGAGCT ACAGGAACGG CTATGCAATT 
GTTCGACGTC CAACAGTTGG GATAGGCGGA GACCGGCTCC AGTTCAACCA GCTGTCCCAG
GCTGAGCTGG ATGAGTTGGC CAGTAAGGCA CCAGTCTTAA CTTATGGCCA ACCTAAACAA
GCCCCACCTG CGGATTTTAT TCCTGCGCAT GTGGCCTTTG ACAAAAAGGT ACTGAAATTT
GATGCCTATT TCCAAGAAGA TGTTCCTATG TCAACTGAGG AACAGTATAG GATCCGTCAG
GTGAACATTT ACTATTATCT AGAAGATGAC AGCATGTCTG TCATAGAGCC TGTTGTAGAA
AATTCTGGAA TCCTTCAAGG CAAGTTAATA AAACGCCAGC GGCTAGCCAA GAATGACCGG
GGTGACCATT ACCATTGGAA AGACCTAAAT CGAGGAATAA ACATCACAAT TTATGGCAAA
ACTTTCCGCG TTGTTGACTG TGACCAATTC ACACAGGTAT TTTTAGAAAG CCAAGGAATT
GAGTTAAATC CACCAGAGAA GATGGCTCTT GATCCTTACA CTGAACTCCG AAAACAGCCT
CTTCGTAAGT ATGTCACCCC ATCAGACTTT GATCAACTCA AGCAATTTCT CACCTTTGAC
AAACAGGTCC TTCGATTCTA TGCAATCTGG GATGATACAG ACAGCATGTA TGGTGAATGT
CGGACCTACA TCATTCATTA CTATCTTATG GATGATACGG TGGAAATTCG AGAGGTCCAC
GAACGGAATG ATGGGAGAGA TCCTTTCCCA CTCCTAATGA ACCGCCAGCG TGTGCCCAAA
GTTTTGGTGG AAAATGCAAA GAACTTCCCT CAGTGTGTGC TAGAAATCTC TGACCAAGAA
GTGTTGGAAT GGTATACTGC TAAAGACTTC ATTGTTGGGA AGTCACTCAC TATCCTTGGG
AGAACTTTCT TCATTTATGA TTGTGATCCA TTTACTCGAC GGTATTACAA AGAGAAGTTT
GGAATCACTG ATTTACCACG TATTGATGTG AGCAAGCGGG AACCACCTCC AGTAAAACAG
GAGTTGCCTC CTTATAACGG TTTTGGACTA GTGGAAGATT CTGCTCAGAA TTGTTTTGCT
CTCATTCCAA AAGCTCCAAA AAAAGACGTT ATTAAAATGC TGGTGAATGA TAACAAGGTG
CTTCGTTATT TGGCTGTACT GGAATCCCCC ATCCCAGAAG ACAAAGACCG CAGATTTGTC
TTCTCTTACT TTCTAGCTAC CGACATGATC AGTATCTTTG AGCCTCCTGT TCGCAATTCT
GGTATCATTG GGGGCAAGTA CCTTGGCAGG ACTAAAGTTG TTAAACCATA CTCTACAGTG
GACAACCCTG TCTACTATGG CCCCAGTGAC TTCTTCATTG GTGCTGTGAT TGAAGTGTTT
GGTCACCGGT TCATCATCCT TGATACAGAC GAGTATGTTT TGAAATACAT GGAGAGCAAC
GCTGCCCAGT ATTCACCAGA AGCACTCGCG TCAATTCAGA ACCATGTCCG AAAGCGAGAA
GCGCCTGCTC CAGAAGCAGA AAGCAAGCAA ACTGAAAAGG ATCCAGGCGT GCAGGAATTG
GAAGCATTAA TAGACACAAT TCAGAAGCAA CTGAAAGATC ACTCATGCAA AGACAACATT
CGTGAGGCAT TTCAAATTTA TGACAAGGAA GCTTCAGGAT ATGTGGACAG AGACATGTTC
TTTAAAATCT GTGAATCGCT TAACGTCCCA GTGGATGACT CCTTGGTTAA GGAGTTAATC
AGGATGTGCT CTCATGGAGA AGGCAAAATT AACTACTATA ACTTTGTTCG TGCTTTCTCA
AACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu19655
Clone ID Related Accession (Same CDS sequence) NM_018100.3
Accession Version NM_018100.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1923bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-30
Organism Homo sapiens(Human)
Product EF-hand domain-containing protein 1 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA906669.1, AK001328.1, BC020210.1, AL049611.24 and BQ270560.1. This sequence is a reference standard in the RefSeqGene project. On Aug 30, 2007 this sequence version replaced NM_018100.2. Transcript Variant: This variant (A) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.49357.1, SRR1803617.225459.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGGTGTCCA ATCCCGTGCA TGGCTTGCCC TTTCTTCCGG GCACGTCCTT TAAGGACTCT 
ACGAAAACAG CCTTCCACAG AAGTCAGACG CTGAGCTACA GGAACGGCTA TGCAATTGTT
CGACGTCCAA CAGTTGGGAT AGGCGGAGAC CGGCTCCAGT TCAACCAGCT GTCCCAGGCT
GAGCTGGATG AGTTGGCCAG TAAGGCACCA GTCTTAACTT ATGGCCAACC TAAACAAGCC
CCACCTGCGG ATTTTATTCC TGCGCATGTG GCCTTTGACA AAAAGGTACT GAAATTTGAT
GCCTATTTCC AAGAAGATGT TCCTATGTCA ACTGAGGAAC AGTATAGGAT CCGTCAGGTG
AACATTTACT ATTATCTAGA AGATGACAGC ATGTCTGTCA TAGAGCCTGT TGTAGAAAAT
TCTGGAATCC TTCAAGGCAA GTTAATAAAA CGCCAGCGGC TAGCCAAGAA TGACCGGGGT
GACCATTACC ATTGGAAAGA CCTAAATCGA GGAATAAACA TCACAATTTA TGGCAAAACT
TTCCGCGTTG TTGACTGTGA CCAATTCACA CAGGTATTTT TAGAAAGCCA AGGAATTGAG
TTAAATCCAC CAGAGAAGAT GGCTCTTGAT CCTTACACTG AACTCCGAAA ACAGCCTCTT
CGTAAGTATG TCACCCCATC AGACTTTGAT CAACTCAAGC AATTTCTCAC CTTTGACAAA
CAGGTCCTTC GATTCTATGC AATCTGGGAT GATACAGACA GCATGTATGG TGAATGTCGG
ACCTACATCA TTCATTACTA TCTTATGGAT GATACGGTGG AAATTCGAGA GGTCCACGAA
CGGAATGATG GGAGAGATCC TTTCCCACTC CTAATGAACC GCCAGCGTGT GCCCAAAGTT
TTGGTGGAAA ATGCAAAGAA CTTCCCTCAG TGTGTGCTAG AAATCTCTGA CCAAGAAGTG
TTGGAATGGT ATACTGCTAA AGACTTCATT GTTGGGAAGT CACTCACTAT CCTTGGGAGA
ACTTTCTTCA TTTATGATTG TGATCCATTT ACTCGACGGT ATTACAAAGA GAAGTTTGGA
ATCACTGATT TACCACGTAT TGATGTGAGC AAGCGGGAAC CACCTCCAGT AAAACAGGAG
TTGCCTCCTT ATAACGGTTT TGGACTAGTG GAAGATTCTG CTCAGAATTG TTTTGCTCTC
ATTCCAAAAG CTCCAAAAAA AGACGTTATT AAAATGCTGG TGAATGATAA CAAGGTGCTT
CGTTATTTGG CTGTACTGGA ATCCCCCATC CCAGAAGACA AAGACCGCAG ATTTGTCTTC
TCTTACTTTC TAGCTACCGA CATGATCAGT ATCTTTGAGC CTCCTGTTCG CAATTCTGGT
ATCATTGGGG GCAAGTACCT TGGCAGGACT AAAGTTGTTA AACCATACTC TACAGTGGAC
AACCCTGTCT ACTATGGCCC CAGTGACTTC TTCATTGGTG CTGTGATTGA AGTGTTTGGT
CACCGGTTCA TCATCCTTGA TACAGACGAG TATGTTTTGA AATACATGGA GAGCAACGCT
GCCCAGTATT CACCAGAAGC ACTCGCGTCA ATTCAGAACC ATGTCCGAAA GCGAGAAGCG
CCTGCTCCAG AAGCAGAAAG CAAGCAAACT GAAAAGGATC CAGGCGTGCA GGAATTGGAA
GCATTAATAG ACACAATTCA GAAGCAACTG AAAGATCACT CATGCAAAGA CAACATTCGT
GAGGCATTTC AAATTTATGA CAAGGAAGCT TCAGGATATG TGGACAGAGA CATGTTCTTT
AAAATCTGTG AATCGCTTAA CGTCCCAGTG GATGACTCCT TGGTTAAGGA GTTAATCAGG
ATGTGCTCTC ATGGAGAAGG CAAAATTAAC TACTATAACT TTGTTCGTGC TTTCTCAAAC
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_060570.2
CDS216..2138
Misc Feature(1)189..191
Misc Feature(2)492..809
Misc Feature(3)579..674
Misc Feature(4)930..1292
Misc Feature(5)1002..1103
Misc Feature(6)1461..1775
Misc Feature(7)1530..1628
Misc Feature(8)1950..2132
Misc Feature(9)1950..2129
Misc Feature(10)order(1974..1976,1980..1982,1986..1988,2007..2009,2085..2087,2091..2093,2112..2114)
Exon (1)1..278
Exon (2)279..500
Exon (3)501..788
Exon (4)789..938
Exon (5)939..1131
Exon (6)1132..1352
Exon (7)1353..1493
Exon (8)1494..1707
Exon (9)1708..1855
Exon (10)1856..2066
Exon (11)2067..5582
Translation

Target ORF information:

RefSeq Version NM_018100.3
Organism Homo sapiens(Human)
Definition Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant A, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_018100.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGGTGTCCA ATCCCGTGCA TGGCTTGCCC TTTCTTCCGG GCACGTCCTT TAAGGACTCT 
ACGAAAACAG CCTTCCACAG AAGTCAGACG CTGAGCTACA GGAACGGCTA TGCAATTGTT
CGACGTCCAA CAGTTGGGAT AGGCGGAGAC CGGCTCCAGT TCAACCAGCT GTCCCAGGCT
GAGCTGGATG AGTTGGCCAG TAAGGCACCA GTCTTAACTT ATGGCCAACC TAAACAAGCC
CCACCTGCGG ATTTTATTCC TGCGCATGTG GCCTTTGACA AAAAGGTACT GAAATTTGAT
GCCTATTTCC AAGAAGATGT TCCTATGTCA ACTGAGGAAC AGTATAGGAT CCGTCAGGTG
AACATTTACT ATTATCTAGA AGATGACAGC ATGTCTGTCA TAGAGCCTGT TGTAGAAAAT
TCTGGAATCC TTCAAGGCAA GTTAATAAAA CGCCAGCGGC TAGCCAAGAA TGACCGGGGT
GACCATTACC ATTGGAAAGA CCTAAATCGA GGAATAAACA TCACAATTTA TGGCAAAACT
TTCCGCGTTG TTGACTGTGA CCAATTCACA CAGGTATTTT TAGAAAGCCA AGGAATTGAG
TTAAATCCAC CAGAGAAGAT GGCTCTTGAT CCTTACACTG AACTCCGAAA ACAGCCTCTT
CGTAAGTATG TCACCCCATC AGACTTTGAT CAACTCAAGC AATTTCTCAC CTTTGACAAA
CAGGTCCTTC GATTCTATGC AATCTGGGAT GATACAGACA GCATGTATGG TGAATGTCGG
ACCTACATCA TTCATTACTA TCTTATGGAT GATACGGTGG AAATTCGAGA GGTCCACGAA
CGGAATGATG GGAGAGATCC TTTCCCACTC CTAATGAACC GCCAGCGTGT GCCCAAAGTT
TTGGTGGAAA ATGCAAAGAA CTTCCCTCAG TGTGTGCTAG AAATCTCTGA CCAAGAAGTG
TTGGAATGGT ATACTGCTAA AGACTTCATT GTTGGGAAGT CACTCACTAT CCTTGGGAGA
ACTTTCTTCA TTTATGATTG TGATCCATTT ACTCGACGGT ATTACAAAGA GAAGTTTGGA
ATCACTGATT TACCACGTAT TGATGTGAGC AAGCGGGAAC CACCTCCAGT AAAACAGGAG
TTGCCTCCTT ATAACGGTTT TGGACTAGTG GAAGATTCTG CTCAGAATTG TTTTGCTCTC
ATTCCAAAAG CTCCAAAAAA AGACGTTATT AAAATGCTGG TGAATGATAA CAAGGTGCTT
CGTTATTTGG CTGTACTGGA ATCCCCCATC CCAGAAGACA AAGACCGCAG ATTTGTCTTC
TCTTACTTTC TAGCTACCGA CATGATCAGT ATCTTTGAGC CTCCTGTTCG CAATTCTGGT
ATCATTGGGG GCAAGTACCT TGGCAGGACT AAAGTTGTTA AACCATACTC TACAGTGGAC
AACCCTGTCT ACTATGGCCC CAGTGACTTC TTCATTGGTG CTGTGATTGA AGTGTTTGGT
CACCGGTTCA TCATCCTTGA TACAGACGAG TATGTTTTGA AATACATGGA GAGCAACGCT
GCCCAGTATT CACCAGAAGC ACTCGCGTCA ATTCAGAACC ATGTCCGAAA GCGAGAAGCG
CCTGCTCCAG AAGCAGAAAG CAAGCAAACT GAAAAGGATC CAGGCGTGCA GGAATTGGAA
GCATTAATAG ACACAATTCA GAAGCAACTG AAAGATCACT CATGCAAAGA CAACATTCGT
GAGGCATTTC AAATTTATGA CAAGGAAGCT TCAGGATATG TGGACAGAGA CATGTTCTTT
AAAATCTGTG AATCGCTTAA CGTCCCAGTG GATGACTCCT TGGTTAAGGA GTTAATCAGG
ATGTGCTCTC ATGGAGAAGG CAAAATTAAC TACTATAACT TTGTTCGTGC TTTCTCAAAC
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Widespread macromolecular interaction perturbations in human genetic disorders.
Cell161(3)647-660(2015 Apr)
Sahni N,Yi S,Taipale M,Fuxman Bass JI,Coulombe-Huntington J,Yang F,Peng J,Weile J,Karras GI,Wang Y,Kovács IA,Kamburov A,Krykbaeva I,Lam MH,Tucker G,Khurana V,Sharma A,Liu YY,Yachie N,Zhong Q,Shen Y,Palagi A,San-Miguel A,Fan C,Balcha D,Dricot A,Jordan DM,Walsh JM,Shah AA,Yang X,Stoyanova AK,Leighton A,Calderwood MA,Jacob Y,Cusick ME,Salehi-Ashtiani K,Whitesell LJ,Sunyaev S,Berger B,Barabási AL,Charloteaux B,Hill DE,Hao T,Roth FP,Xia Y,Walhout AJM,Lindquist S,Vidal M


book

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Epilepsia56(2)188-94(2015 Feb)
Subaran RL,Conte JM,Stewart WC,Greenberg DA


book

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
Epilepsy & behavior : E&B28 Suppl 1S58-60(2013 Jul)
de Nijs L,Wolkoff N,Grisar T,Lakaye B


book

The quest for juvenile myoclonic epilepsy genes.
Epilepsy & behavior : E&B28 Suppl 1S52-7(2013 Jul)
Delgado-Escueta AV,Koeleman BP,Bailey JN,Medina MT,Durón RM


book

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
Human molecular genetics21(23)5106-17(2012 Dec)
de Nijs L,Wolkoff N,Coumans B,Delgado-Escueta AV,Grisar T,Lakaye B


 
*
*
*
*