EFHC1

Identificadores

Nomes alternativos

EFHC1, Proteína 1 contendo o domínio da mão EF

IDs externos

OMIM: 608815 HomoloGene: 10003 GeneCards: EFHC1

Doenças Geneticamente Relacionadas

juvenile absence epilepsy^[1]

Ontologia genética
Função molecular	• calcium ion binding • protein C-terminus binding • GO:0001948, GO:0016582 ligação a proteínas plasmáticas • alpha-tubulin binding
Componente celular	• citoplasma • GO:0035085 axonema • neuronal cell body • centrossoma • fuso mitótico • mitotic spindle • citoesqueleto • centro organizador dos microtúbulos • spindle pole
Processo biológico	• cerebral cortex cell migration • mitotic cytokinesis • GO:0043148 mitotic spindle organization • regulation of cell division • cilium-dependent cell motility
Sources:Amigo / QuickGO

Padrão de expressão RNA

Mais dados de referência de expressão

Ortólogos

Espécie

Humano

Rato

Entrez


114327


n/a

Ensembl


ENSG00000096093


n/a

UniProt


Q5JVL4


n/a

RefSeq (mRNA)


NM_001172420 NM_018100


n/a

RefSeq (proteína)


NP_001165891 NP_060570 NP_001165891.1 NP_060570.2


n/a

Localização (UCSC)

n/a

Pesquisa PubMed

^[2]

n/a

Wikidata

Ver/Editar Humano

A Proteína 1 contendo o domínio da mão EF é uma proteína que em humanos é codificada pelo gene EFHC1.^[3]

As variantes de EFHC1 inicialmente consideradas patogênicas na epilepsia foram encontradas em controles não afetados da mesma ancestralidade, de modo que este não é um provável gene da epilepsia.^[4]

Referências

↑ «Doenças geneticamente associadas a EFHC1 ver/editar referências no wikidata»
↑ «Human PubMed Reference:»
↑ «Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1»
↑ Subaran RL, Conte JM, Stewart WC, Greenberg DA (2015). «Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.». Epilepsia. 56 (2): 188–94. PMC 4354299. PMID 25489633. doi:10.1111/epi.12864

Leitura adicional

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. doi:10.1016/0378-1119(94)90802-8
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. PMID 8737649. doi:10.1002/(SICI)1096-8628(19960614)63:3<438::AID-AJMG5>3.0.CO;2-N
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. doi:10.1212/wnl.49.3.842
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. doi:10.1016/S0378-1119(97)00411-3
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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899
Mungall AJ, Palmer SA, Sims SK, et al. (2003). «The DNA sequence and analysis of human chromosome 6». Nature. 425 (6960): 805–11. PMID 14574404. doi:10.1038/nature02055
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. PMID 14702039. doi:10.1038/ng1285
Suzuki T, Delgado-Escueta AV, Aguan K, et al. (2004). «Mutations in EFHC1 cause juvenile myoclonic epilepsy». Nat. Genet. 36 (8): 842–9. PMID 15258581. doi:10.1038/ng1393
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. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504
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. PMID 16189514. doi:10.1038/nature04209
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. PMC 1356129. PMID 16344560. doi:10.1101/gr.4039406
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. PMID 16378686. doi:10.1016/j.neulet.2005.11.039
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. PMID 16824517. doi:10.1016/j.yexcr.2006.05.011
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. PMID 17054699. doi:10.1111/j.1528-1167.2006.00676.x
Stogmann E, Lichtner P, Baumgartner C, et al. (2007). «Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations». Neurology. 67 (11): 2029–31. PMID 17159113. doi:10.1212/01.wnl.0000250254.67042.1b
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. PMID 17634063. doi:10.1111/j.1528-1167.2007.01173.x