EFHC1

EFHC1
Identifiers
Aliases	EFHC1, EJM1, dJ304B14.2, EF-hand domain containing 1, POC9, RIB72
External IDs	OMIM: 608815 MGI: 1919127 HomoloGene: 10003 GeneCards: EFHC1
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	52,529,886 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	21,061,065 bp[2]
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; right uterine tube; ; sperm; ; caput epididymis; ; pituitary gland; ; anterior pituitary; ; germinal epithelium; ; trachea; ; left lobe of thyroid gland; ; corpus epididymis;
	Top expressed in
	spermatid; ; seminiferous tubule; ; spermatocyte; ; otolith organ; ; utricle; ; respiratory epithelium; ; olfactory epithelium; ; right lung lobe; ; left lung lobe; ; pituitary gland;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein C-terminus binding; protein binding; alpha-tubulin binding;
Cellular component	cytoplasm; axoneme; neuronal cell body; centrosome; spindle; mitotic spindle; cytoskeleton; microtubule organizing center; spindle pole;
Biological process	cerebral cortex cell migration; mitotic cytokinesis; mitotic spindle organization; regulation of cell division; cilium-dependent cell motility;
	Sources:Amigo / QuickGO
Orthologs
	114327
	71877
	ENSG00000096093
	ENSMUSG00000041809
	Q5JVL4
	Q9D9T8
	NM_001172420; NM_018100
	NM_027974
	NP_001165891; NP_060570; NP_001165891.1; NP_060570.2
	NP_082250
	Wikidata
View/Edit Human	View/Edit Mouse

EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.[5]

Not all variants of EFHC1 are pathogenic.[6]

References

GRCh38: Ensembl release 89: ENSG00000096093 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000041809 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1".
Subaran RL, Conte JM, Stewart WC, Greenberg DA (2015). "Common EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry". Epilepsia. 56 (2): 188–94. doi:10.1111/epi.12864. PMC 4354299. PMID 25489633.

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Liu AW, Delgado-Escueta AV, Gee MN, et al. (1996). "Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations". Am. J. Med. Genet. 63 (3): 438–46. doi:10.1002/(SICI)1096-8628(19960614)63:3<438::AID-AJMG5>3.0.CO;2-N. PMID 8737649. S2CID 39114983.
Sander T, Bockenkamp B, Hildmann T, et al. (1997). "Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6". Neurology. 49 (3): 842–7. doi:10.1212/wnl.49.3.842. PMID 9305351. S2CID 11455679.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Suzuki T, Delgado-Escueta AV, Aguan K, et al. (2004). "Mutations in EFHC1 cause juvenile myoclonic epilepsy". Nat. Genet. 36 (8): 842–9. doi:10.1038/ng1393. PMID 15258581. S2CID 32916803.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Norberg A, Forsgren L, Holmberg D, Holmberg M (2006). "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". Neurosci. Lett. 396 (2): 137–42. doi:10.1016/j.neulet.2005.11.039. PMID 16378686. S2CID 24130870.
de Nijs L, Lakaye B, Coumans B, et al. (2006). "EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus". Exp. Cell Res. 312 (15): 2872–9. doi:10.1016/j.yexcr.2006.05.011. PMID 16824517.
Pinto D, Louwaars S, Westland B, et al. (2006). "Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families". Epilepsia. 47 (10): 1743–6. doi:10.1111/j.1528-1167.2006.00676.x. PMID 17054699. S2CID 20168220.
Stogmann E, Lichtner P, Baumgartner C, et al. (2007). "Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations". Neurology. 67 (11): 2029–31. doi:10.1212/01.wnl.0000250254.67042.1b. PMID 17159113. S2CID 11770274.
Annesi F, Gambardella A, Michelucci R, et al. (2007). "Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy". Epilepsia. 48 (9): 1686–90. doi:10.1111/j.1528-1167.2007.01173.x. PMID 17634063. S2CID 7745360.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000096093 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000041809 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1".

[6] Subaran RL, Conte JM, Stewart WC, Greenberg DA (2015). "Common EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry". Epilepsia. 56 (2): 188–94. doi:10.1111/epi.12864. PMC 4354299. PMID 25489633.

EFHC1

References

Further reading