Gene Symbol | Efhc1 |
Entrez Gene ID | 71877 |
Full Name | EF-hand domain (C-terminal) containing 1 |
Synonyms | 1700029F22Rik,mRib72-1,myoclonin1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome |
ORF » Species Summary » Mus musculus » Efhc1 cDNA ORF clone
Gene Symbol | Efhc1 |
Entrez Gene ID | 71877 |
Full Name | EF-hand domain (C-terminal) containing 1 |
Synonyms | 1700029F22Rik,mRib72-1,myoclonin1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome |
mRNA | Protein | Name |
---|---|---|
XM_006495576.3 | XP_006495639.1 | EF-hand domain-containing protein 1 isoform X1 |
NM_027974.1 | NP_082250.1 | EF-hand domain-containing protein 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 |
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 |
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)
Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?
Yamakawa K, Suzuki T
Epilepsy & behavior : E&B28 Suppl 1S61-2(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)
Distribution of EFHC1 or Myoclonin 1 in mouse neural structures.
L?on C, de Nijs L, Chanas G, Delgado-Escueta AV, Grisar T, Lakaye B
Epilepsy research88(2-3)196-207(2010 Feb)
Tissue expression patterns identify mouse cilia genes.
McClintock TS, Glasser CE, Bose SC, Bergman DA
Physiological genomics32(2)198-206(2008 Jan)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
We reviewed whether variants damage EFHC1 functions, whether efhc1(-/-) KO mice recapitulate CTC convulsions and "microdysgenesis" neuropathology, and whether supernumerary synaptic and dendritic phenotypes can be rescued in the fly model when EFHC1 is overexpressed
Title: EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Efhc1 (-/-) mouse did not show any abnormalities such as disruption of mitotic spindle structure, impaired M-phase progression, and an increase of apoptosis. Further investigations are required to clarify these discrepancies.
Title: Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?
The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
Title: The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
In the adult, low mRNA expression was detected in several brain structures such as cortex, striatum, hippocampus and cerebellum. At E16, EFHC1 mRNA was shown to be expressed in all layers of cortex and not only in cells lining ventricles.
Title: Distribution of EFHC1 or Myoclonin 1 in mouse neural structures.
Data report the expression profile and distribution of Efhc1 messenger RNA during mouse and rat brain development, and suggest that Efhc1 expression is more important during initial phases of brain development.
Title: Expression profile and distribution of Efhc1 gene transcript during rodent 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 | OMu04880 | |
Clone ID Related Accession (Same CDS sequence) | NM_027974.1 | |
Accession Version | NM_027974.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1947bp) 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 | 2019-12-27 | |
Organism | Mus musculus(house mouse) | |
Product | EF-hand domain-containing protein 1 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY037196.1, EU520262.1, AK006489.1 and AC156980.9. On or before Jul 23, 2009 this sequence version replaced XM_907335.2, XM_129694.8. 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 :: AK006489.1, EU520262.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGGGGACCA ACCCGGTGCA CGGCCTGCCC TTTCTCCCGG GCTCGTCCTT TACAGACTCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_082250.1 |
CDS | 109..2055 |
Translation |
Target ORF information:
Target ORF information:
|
NM_027974.1 |
1 | ATGGGGACCA ACCCGGTGCA CGGCCTGCCC TTTCTCCCGG GCTCGTCCTT TACAGACTCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu27179 | |
Clone ID Related Accession (Same CDS sequence) | XM_006495576.3 | |
Accession Version | XM_006495576.3 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1614bp) 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 | 2016-06-21 | |
Organism | Mus musculus(house mouse) | |
Product | EF-hand domain-containing protein 1 isoform X1 | |
Comment | Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000067.6) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process On Jun 22, 2016 this sequence version replaced XM_006495576.2. ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Mus musculus Annotation Release 106 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.1 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## |
1 | ATGGGGACCA ACCCGGTGCA CGGCCTGCCC TTTCTCCCGG GCTCGTCCTT TACAGACTCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | XP_006495639.1 |
CDS | 185..1798 |
Translation |
Target ORF information:
Target ORF information:
|
XM_006495576.3 |
1 | ATGGGGACCA ACCCGGTGCA CGGCCTGCCC TTTCTCCCGG GCTCGTCCTT TACAGACTCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. |
Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific? |
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. |
Distribution of EFHC1 or Myoclonin 1 in mouse neural structures. |
Tissue expression patterns identify mouse cilia genes. |