EFHC1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

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	Chromosome: 6 Map Location: 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); {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_018100.3	NP_060570.2	EF-hand domain-containing protein 1 isoform 1
NM_001172420.1	NP_001165891.1	EF-hand domain-containing protein 1 isoform 2
NM_018100.4	NP_060570.2	EF-hand domain-containing protein 1 isoform 1
NM_001172420.2	NP_001165891.1	EF-hand domain-containing protein 1 isoform 2

Pathways from BioSystems

Homologies

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
	EFHC1	XP_001107470.1
Canis lupus familiaris (dog)	EFHC1	XP_005627529.1
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

Gene Ontology
Bibliography

Related articles in PubMed

Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Raju PK, Satishchandra P, Nayak S, Iyer V, Sinha S, Anand A
Human mutation38(7)816-826(2017 Jul)

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey JN, Patterson C, de Nijs L, Dur?n RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Mart?nez-Ju?rez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV
Genetics in medicine : official journal of the American College of Medical Genetics19(2)144-156(2017 Feb)

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, Kov?cs 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, Barab?si 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)

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

NHGRI gene-level evidence and variant-level evidence establish EFHC1 as the first non-ion channel microtubule-associated protein whose mutations disturb R-type VDCC and TRPM2 calcium currents in overgrown synapses and dendrites within abnormally migrated dislocated neurons, thus explaining CTC convulsions and "microdysgenesis" neuropathology of juvenile myoclonic epilepsy
Title: EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.

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.

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.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu19655	NM_018100.4 Latest version!	Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant A, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$219.50-$307.30 $439.00
OHu08059	NM_001172420.2 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
View Old Accession Versions >>
OHu19655	NM_018100.3	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
OHu08059	NM_001172420.1	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
Hide Old Accession Versions >>

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

Reference Sequences (Refseq)

EFHC1 ( NM_018100.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_060570.2 Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant A, mRNA.

Price & Availability↑

CloneID	OHu19655
Clone ID Related Accession (Same CDS sequence)	NM_018100.3 , NM_018100.4
Accession Version	NM_018100.4 Latest version!	Documents for ORF clone product in default 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	2019-08-21
Organism	Homo sapiens(human)
Product	EF-hand domain-containing protein 1 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK001328.1, BC020210.1, AL049611.24 and BQ270560.1. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_018100.3. 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 :: SRR1803617.225459.1, SRR1660803.49357.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000371068.11/ ENSP00000360107.4 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

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
CDS	70..1992
Translation	MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN

Target ORF information:

RefSeq Version	NM_018100.4
Organism	Homo sapiens(human)
Definition	Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant A, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_018100.4

ORF Insert Sequence:

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.

EFHC1 ( NM_001172420.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001165891.1 Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant C, mRNA.

Price & Availability↑

CloneID	OHu08059
Clone ID Related Accession (Same CDS sequence)	NM_001172420.1 , NM_001172420.2
Accession Version	NM_001172420.1	Documents for ORF clone product in default 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	2018-06-23
Organism	Homo sapiens(human)
Product	EF-hand domain-containing protein 1 isoform 2
Comment	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.

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
CDS	185..2050
Translation	MLKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN

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	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001172420.1

ORF Insert Sequence:

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.

EFHC1 ( NM_001172420.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001165891.1 Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant C, mRNA.

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CloneID	OHu08059
Clone ID Related Accession (Same CDS sequence)	NM_001172420.1 , NM_001172420.2
Accession Version	NM_001172420.2 Latest version!	Documents for ORF clone product in default 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	2019-05-30
Organism	Homo sapiens(human)
Product	EF-hand domain-containing protein 1 isoform 2
Comment	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. On May 31, 2019 this sequence version replaced NM_001172420.1. 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.

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
CDS	184..2049
Translation	MLKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN

Target ORF information:

RefSeq Version	NM_001172420.2
Organism	Homo sapiens(human)
Definition	Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant C, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001172420.2

ORF Insert Sequence:

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.

EFHC1 ( NM_018100.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_060570.2 Homo sapiens EF-hand domain containing 1 (EFHC1), transcript variant A, mRNA.

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CloneID	OHu19655
Clone ID Related Accession (Same CDS sequence)	NM_018100.3 , NM_018100.4
Accession Version	NM_018100.3	Documents for ORF clone product in default 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	2017-12-26
Organism	Homo sapiens(human)
Product	EF-hand domain-containing protein 1 isoform 1
Comment	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.

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
CDS	216..2138
Translation	MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN

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	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_018100.3

ORF Insert Sequence:

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.

PubMed

Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Human mutation38(7)816-826(2017 Jul)
Raju PK,Satishchandra P,Nayak S,Iyer V,Sinha S,Anand A

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Genetics in medicine : official journal of the American College of Medical Genetics19(2)144-156(2017 Feb)
Bailey JN,Patterson C,de Nijs L,Dur?n RM,Nguyen VH,Tanaka M,Medina MT,Jara-Prado A,Mart?nez-Ju?rez IE,Ochoa A,Molina Y,Suzuki T,Alonso ME,Wight JE,Lin YC,Guilhoto L,Targas Yacubian EM,Machado-Salas J,Daga A,Yamakawa K,Grisar TM,Lakaye B,Delgado-Escueta AV

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,Kov?cs 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,Barab?si AL,Charloteaux B,Hill DE,Hao T,Roth FP,Xia Y,Walhout AJM,Lindquist S,Vidal M

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

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

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EFHC1 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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