EFHC1

Protein-coding gene in the species Homo sapiens
EFHC1
Identifiers
AliasesEFHC1, EJM1, dJ304B14.2, EF-hand domain containing 1, POC9, RIB72
External IDsOMIM: 608815; MGI: 1919127; HomoloGene: 10003; GeneCards: EFHC1; OMA:EFHC1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for EFHC1
Genomic location for EFHC1
Band6p12.2Start52,362,123 bp[1]
End52,529,886 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for EFHC1
Genomic location for EFHC1
Band1|1 A4Start21,021,850 bp[2]
End21,061,065 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bronchial epithelial cell

  • right uterine tube

  • mucosa of paranasal sinus

  • sperm

  • olfactory zone of nasal mucosa

  • caput epididymis

  • Epithelium of choroid plexus

  • left testis

  • epithelium of nasopharynx

  • pituitary gland
Top expressed in
  • spermatid

  • seminiferous tubule

  • spermatocyte

  • otolith organ

  • utricle

  • Epithelium of choroid plexus

  • vestibular sensory epithelium

  • choroid plexus of fourth ventricle

  • respiratory epithelium

  • olfactory epithelium
More reference expression data
BioGPS
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
SpeciesHumanMouse
Entrez

114327

71877

Ensembl

ENSG00000096093

ENSMUSG00000041809

UniProt

Q5JVL4

Q9D9T8

RefSeq (mRNA)

NM_001172420
NM_018100

NM_027974

RefSeq (protein)

NP_001165891
NP_060570
NP_001165891.1
NP_060570.2

NP_082250

Location (UCSC)Chr 6: 52.36 – 52.53 MbChr 1: 21.02 – 21.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000096093 – Ensembl, May 2017
  2. ^ a b c 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.
  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.

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. 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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