EFHC1: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (Bot: HTTP→HTTPS)
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Underlinked|date=May 2016}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''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>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = EF-hand domain (C-terminal) containing 1
| HGNCid = 16406
| Symbol = EFHC1
| AltSymbols =; EJM; EJM1; FLJ10466; dJ304B14.2
| OMIM = 608815
| ECnumber = 
| Homologene = 10003
| MGIid = 1919127
| GeneAtlas_image1 = PBB_GE_EFHC1_219833_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0008022 |text = protein C-terminus binding}}
| Component = {{GNF_GO|id=GO:0005929 |text = cilium}} {{GNF_GO|id=GO:0005930 |text = axoneme}} {{GNF_GO|id=GO:0019861 |text = flagellum}} {{GNF_GO|id=GO:0043025 |text = cell soma}}  
| Process = {{GNF_GO|id=GO:0006874 |text = cellular calcium ion homeostasis}} {{GNF_GO|id=GO:0043065 |text = positive regulation of apoptosis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 114327
    | Hs_Ensembl = ENSG00000096093
    | Hs_RefseqProtein = NP_060570
    | Hs_RefseqmRNA = NM_018100
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 52393065
    | Hs_GenLoc_end = 52465303
    | Hs_Uniprot = Q5JVL4
    | Mm_EntrezGene = 71877
    | Mm_Ensembl = ENSMUSG00000041809
    | Mm_RefseqmRNA = XM_129694
    | Mm_RefseqProtein = XP_129694
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 20936839
    | Mm_GenLoc_end = 20975990
    | Mm_Uniprot = Q9D9T8
  }}
}}
'''EF-hand domain (C-terminal) containing 1''', also known as '''EFHC1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114327| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Line 53: Line 8:
| summary_text =  
| summary_text =  
}}
}}
EFHC1 variants initially thought to be pathogenic in [[epilepsy]] were found in unaffected controls of the same ancestry so that this is not a likely epilepsy gene. <ref>{{cite journal | vauthors=Subaran RL, Conte JM, Stewart WC, Greenberg DA|title= Pathogenic 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}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=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=  }}
*{{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, Delgado-Escueta AV, Gee MN, ''et al.'' |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 }}
*{{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-format=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. }}
*{{cite journal | author=Sander T, Bockenkamp B, Hildmann T, ''et al.'' |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=  }}
*{{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-format=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  }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |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=  }}
*{{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-format=vanc| author2=Yoshitomo-Nakagawa K | author3=Maruyama K  | display-authors=3  | last4=Suyama  | first4=A  | last5=Sugano  | first5=S  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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-format=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 }}
*{{cite journal | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |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 }}
*{{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-format=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. }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{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-format=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 }}
*{{cite journal  | author=Suzuki T, Delgado-Escueta AV, Aguan K, ''et al.'' |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 }}
*{{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-format=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 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{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-format=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, Venkatesan K, Hao T, ''et al.'' |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 }}
*{{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-format=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 }}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |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 }}
*{{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-format=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 | author=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 }}
*{{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 }}
*{{cite journal  | author=de Nijs L, Lakaye B, Coumans B, ''et al.'' |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 }}
*{{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-format=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, Louwaars S, Westland B, ''et al.'' |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 }}
*{{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-format=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. }}
*{{cite journal  | author=Stogmann E, Lichtner P, Baumgartner C, ''et al.'' |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 }}
*{{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-format=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. }}
*{{cite journal | author=Annesi F, Gambardella A, Michelucci R, ''et al.'' |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 }}
*{{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-format=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 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{WikiDoc Sources}}
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
 
{{gene-6-stub}}
 
[[Category:EF-hand-containing proteins]]

Revision as of 00:20, 31 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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


EFHC1 variants initially thought to be pathogenic in epilepsy were found in unaffected controls of the same ancestry so that this is not a likely epilepsy gene. [2]

References

  1. ↑ "Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1".
  2. ↑ 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. doi:10.1111/epi.12864. PMC 4354299. PMID 25489633.

Further reading



Retrieved from "https://www.wikidoc.org/index.php?title=EFHC1&oldid=1421115"