EFHC1

From Wikipedia, the free encyclopedia

EF-hand domain (C-terminal) containing 1

Identifiers

EFHC1; EJM; EJM1; FLJ10466; dJ304B14.2

External IDs

OMIM: 608815 MGI: 1919127 HomoloGene: 10003

Gene ontology
Molecular Function:	• calcium ion binding • protein C-terminus binding
Cellular Component:	• cilium • axoneme • flagellum • cell soma
Biological Process:	• cellular calcium ion homeostasis • positive regulation of apoptosis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_018100 (mRNA)
NP_060570 (protein)

XM_129694 (mRNA)
XP_129694 (protein)

Location

Chr 6: 52.39 - 52.47 Mb

Chr 1: 20.94 - 20.98 Mb

Pubmed search

[1]

[2]

EF-hand domain (C-terminal) containing 1, also known as EFHC1, is a human gene.^[1]

[edit] References

^ Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1.

[edit] Further reading

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. 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.
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. PMID 9305351.
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. 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. doi:10.1073/pnas.242603899. 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. 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.
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. 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. doi:10.1038/nature04209. PMID 16189514.
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. 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.
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.
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.
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.