View source for EFHC1

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''EF-hand domain-containing protein 1''' is a [[protein]] that in humans is encoded by the ''EFHC1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114327| accessdate = }}</ref>
Not all variants of EFHC1 are pathogenic.<ref>{{cite journal | vauthors=Subaran RL, Conte JM, Stewart WC, Greenberg DA|title= Common EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.|journal= Epilepsia|year= 2015 |volume=56|issue=2|pages=188–94|doi=10.1111/epi.12864|pmid=25489633|pmc= 4354299}}</ref>
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
*{{cite journal  | author=Liu AW |title=Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations |journal=Am. J. Med. Genet. |volume=63 |issue= 3 |pages= 438–46 |year= 1996 |pmid= 8737649 |doi= 10.1002/(SICI)1096-8628(19960614)63:3<438::AID-AJMG5>3.0.CO;2-N  |name-list-style=vanc| author2=Delgado-Escueta AV  | author3=Gee MN  | display-authors=3  | last4=Serratosa  | first4=J. M.  | last5=Zhang  | first5=Q. W.  | last6=Alonso  | first6=M. E.  | last7=Medina  | first7=M. T.  | last8=Cordova  | first8=S.  | last9=Zhao  | first9=H. Z. |s2cid=39114983 }}
*{{cite journal  | author=Sander T |title=Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 |journal=Neurology |volume=49 |issue= 3 |pages= 842–7 |year= 1997 |pmid= 9305351 |doi=  10.1212/wnl.49.3.842|name-list-style=vanc| author2=Bockenkamp B  | author3=Hildmann T  | display-authors=3  | last4=Blasczyk  | first4=R  | last5=Kretz  | first5=R  | last6=Wienker  | first6=TF  | last7=Volz  | first7=A  | last8=Schmitz  | first8=B  | last9=Beck-Mannagetta  | first9=G  |s2cid=11455679 }}
*{{cite journal  | author=Suzuki Y |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  |name-list-style=vanc| author2=Yoshitomo-Nakagawa K  | author3=Maruyama K  | display-authors=3  | last4=Suyama  | first4=A  | last5=Sugano  | first5=S  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-style=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal  | author=Mungall AJ |title=The DNA sequence and analysis of human chromosome 6 |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055  |name-list-style=vanc| author2=Palmer SA  | author3=Sims SK  | display-authors=3  | last4=Edwards  | first4=C. A.  | last5=Ashurst  | first5=J. L.  | last6=Wilming  | first6=L.  | last7=Jones  | first7=M. C.  | last8=Horton  | first8=R.  | last9=Hunt  | first9=S. E. |bibcode=2003Natur.425..805M | doi-access=free  }}
*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-style=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki | doi-access=free  }}
*{{cite journal  | author=Suzuki T |title=Mutations in EFHC1 cause juvenile myoclonic epilepsy |journal=Nat. Genet. |volume=36 |issue= 8 |pages= 842–9 |year= 2004 |pmid= 15258581 |doi= 10.1038/ng1393  |name-list-style=vanc| author2=Delgado-Escueta AV  | author3=Aguan K  | display-authors=3  | last4=Alonso  | first4=Maria E  | last5=Shi  | first5=Jun  | last6=Hara  | first6=Yuji  | last7=Nishida  | first7=Motohiro  | last8=Numata  | first8=Tomohiro  | last9=Medina  | first9=Marco T |s2cid=32916803 }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928  |name-list-style=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209  |name-list-style=vanc| author2=Venkatesan K  | author3=Hao T  | display-authors=3  | last4=Hirozane-Kishikawa  | first4=Tomoko  | last5=Dricot  | first5=Amélie  | last6=Li  | first6=Ning  | last7=Berriz  | first7=Gabriel F.  | last8=Gibbons  | first8=Francis D.  | last9=Dreze  | first9=Matija |bibcode=2005Natur.437.1173R |s2cid=4427026 }}
*{{cite journal  | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406  | pmc=1356129  |name-list-style=vanc| author2=Wakamatsu A  | author3=Suzuki Y  | display-authors=3  | last4=Ota  | first4=T  | last5=Nishikawa  | first5=T  | last6=Yamashita  | first6=R  | last7=Yamamoto  | first7=J  | last8=Sekine  | first8=M  | last9=Tsuritani  | first9=K }}
*{{cite journal  | vauthors=Norberg A, Forsgren L, Holmberg D, Holmberg M |title=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 |journal=Neurosci. Lett. |volume=396 |issue= 2 |pages= 137–42 |year= 2006 |pmid= 16378686 |doi= 10.1016/j.neulet.2005.11.039 |s2cid=24130870 }}
*{{cite journal  | author=de Nijs L |title=EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus |journal=Exp. Cell Res. |volume=312 |issue= 15 |pages= 2872–9 |year= 2006 |pmid= 16824517 |doi= 10.1016/j.yexcr.2006.05.011  |name-list-style=vanc| author2=Lakaye B  | author3=Coumans B  | display-authors=3  | last4=Léon  | first4=Christine  | last5=Ikeda  | first5=Takashi  | last6=Delgado-Escueta  | first6=Antonio V.  | last7=Grisar  | first7=Thierry  | last8=Chanas  | first8=Grazyna }}
*{{cite journal  | author=Pinto D |title=Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families |journal=Epilepsia |volume=47 |issue= 10 |pages= 1743–6 |year= 2006 |pmid= 17054699 |doi= 10.1111/j.1528-1167.2006.00676.x  |name-list-style=vanc| author2=Louwaars S  | author3=Westland B  | display-authors=3  | last4=Volkers  | first4=Linda  | last5=De Haan  | first5=Gerrit-Jan  | last6=Trenité  | first6=Dorothée G.A. Kasteleijn-Nolst  | last7=Lindhout  | first7=Dick  | last8=Koeleman  | first8=Bobby P.C. |s2cid=20168220 | doi-access=free  }}
*{{cite journal  | author=Stogmann E |title=Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations |journal=Neurology |volume=67 |issue= 11 |pages= 2029–31 |year= 2007 |pmid= 17159113 |doi= 10.1212/01.wnl.0000250254.67042.1b  |name-list-style=vanc| author2=Lichtner P  | author3=Baumgartner C  | display-authors=3  | last4=Bonelli  | first4=S.  | last5=Assem-Hilger  | first5=E.  | last6=Leutmezer  | first6=F.  | last7=Schmied  | first7=M.  | last8=Hotzy  | first8=C.  | last9=Strom  | first9=T. M. |s2cid=11770274 }}
*{{cite journal  | author=Annesi F |title=Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy |journal=Epilepsia |volume=48 |issue= 9 |pages= 1686–90 |year= 2007 |pmid= 17634063 |doi= 10.1111/j.1528-1167.2007.01173.x  |name-list-style=vanc| author2=Gambardella A  | author3=Michelucci R  | display-authors=3  | last4=Bianchi  | first4=Amedeo  | last5=Marini  | first5=Carla  | last6=Canevini  | first6=Maria Paola  | last7=Capovilla  | first7=Giuseppe  | last8=Elia  | first8=Maurizio  | last9=Buti  | first9=Daniela |s2cid=7745360 | doi-access=free  }}
{{refend}}
{{gene-6-stub}}
[[Category:EF-hand-containing proteins]]