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)
End	52,529,886 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	21,061,065 bp
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

Last updated September 16, 2023

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]

Related Research Articles

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome or impulsive petit mal, is a form of hereditary, idiopathic generalized epilepsy, representing 5–10% of all epilepsy cases. Typically it first presents between the ages of 12 and 18 with myoclonic seizures. These events typically occur after awakening from sleep, during the evening or when sleep-deprived. JME is also characterized by generalized tonic–clonic seizures, and a minority of patients have absence seizures. It was first described by Théodore Herpin in 1857. Understanding of the genetics of JME has been rapidly evolving since the 1990s, and over 20 chromosomal loci and multiple genes have been identified. Given the genetic and clinical heterogeneity of JME some authors have suggested that it should be thought of as a spectrum disorder.

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The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.

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Gap junction delta-2 protein (GJD2) also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9) is a protein that in humans is encoded by the GJD2 gene.

EF-hand domain (C-terminal) containing 2 is a protein that in humans is encoded by the EFHC2 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000096093 - Ensembl, May 2017
1 2 3 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] 1 2 3 GRCh38: Ensembl release 89: ENSG00000096093 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

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EFHC1

Related Research Articles

References

Further reading