EFHC1

EF-hand domain (C-terminal) containing 1

Identifiers

EFHC1; FLJ10466; FLJ37290; dJ304B14.2

External IDs

OMIM: 608815 MGI: 1919127 HomoloGene: 10003 GeneCards: EFHC1 Gene

Gene Ontology
Molecular function	• calcium ion binding • protein C-terminus binding
Cellular component	• cilium • axoneme • flagellum • neuronal cell body
Biological process	• cellular calcium ion homeostasis • positive regulation of apoptosis
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 6:
52.29 – 52.39 Mb

Chr 1:
20.94 – 20.98 Mb

PubMed search

[1]

[2]

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

References

^ "Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114327.

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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.
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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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
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. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129.
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.

EFHC1

References

Further reading