OPA3: Difference between revisions

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Latest revision as of 18:46, 22 September 2018

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.^[1]^[2]^[3]

References

↑ Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC (Jul 1997). "Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene". Hum Mol Genet. 6 (4): 563–9. doi:10.1093/hmg/6.4.563. PMID 9097959.
↑ Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (Nov 2001). "Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews". Am J Hum Genet. 69 (6): 1218–24. doi:10.1086/324651. PMC 1235533. PMID 11668429.
↑ "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)".

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Kleta R, Skovby F, Christensen E, et al. (2003). "3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings". Mol. Genet. Metab. 76 (3): 201–6. doi:10.1016/S1096-7192(02)00047-1. PMID 12126933.
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
GARCIN R, RAVERDY P, DELTHIL S, et al. (1998). "[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms.]". Rev. Neurol. (Paris). 104: 373–9. PMID 13703570.
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.
Reynier P, Amati-Bonneau P, Verny C, et al. (2005). "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract". J. Med. Genet. 41 (9): e110. doi:10.1136/jmg.2003.016576. PMC 1735897. PMID 15342707.
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.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
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.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Fink N, Mouallem M (2006). "[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]". Harefuah. 145 (6): 402–3, 472. PMID 16838891.

External links

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[pmid9097959-1] Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC (Jul 1997). "Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene". Hum Mol Genet. 6 (4): 563–9. doi:10.1093/hmg/6.4.563. PMID 9097959.

[pmid11668429-2] Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (Nov 2001). "Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews". Am J Hum Genet. 69 (6): 1218–24. doi:10.1086/324651. PMC 1235533. PMID 11668429.

[entrez-3] "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)".

[1]

[2]

[3]

@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Optic atrophy 3 protein''' is a [[protein]] that in humans is encoded by the ''OPA3'' [[gene]].<ref name="pmid9097959">{{cite journal | vauthors = Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC | author-link2= Hanan Costeff | title = Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene | journal = Hum Mol Genet | volume = 6 | issue = 4 | pages = 563–9 |date=Jul 1997 | pmid = 9097959 | pmc =  | doi =10.1093/hmg/6.4.563  }}</ref><ref name="pmid11668429">{{cite journal | vauthors = Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O | title = Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews | journal = Am J Hum Genet | volume = 69 | issue = 6 | pages = 1218–24 |date=Nov 2001 | pmid = 11668429 | pmc = 1235533 | doi = 10.1086/324651 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80207| accessdate = }}</ref>
-| update_page = yes
-| 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. -->
+==See also==
-{{GNF_Protein_box
+* [[3-Methylglutaconic aciduria]]
- | image =
- | image_source =
- | PDB =
- | Name = Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
- | HGNCid = 8142
- | Symbol = OPA3
- | AltSymbols =; FLJ22187; FLJ25932; MGA3; MGC75494
- | OMIM = 606580
- | ECnumber =
- | Homologene = 57022
- | MGIid = 2686271
- | GeneAtlas_image1 = PBB_GE_OPA3_206357_at_tn.png
- | Function =
- | Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
- | Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 80207
-    | Hs_Ensembl = ENSG00000125741
-    | Hs_RefseqProtein = NP_001017989
-    | Hs_RefseqmRNA = NM_001017989
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 19
-    | Hs_GenLoc_start = 50722525
-    | Hs_GenLoc_end = 50779940
-    | Hs_Uniprot = Q9H6K4
-    | Mm_EntrezGene = 403187
-    | Mm_Ensembl = ENSMUSG00000052214
-    | Mm_RefseqmRNA = NM_207525
-    | Mm_RefseqProtein = NP_997408
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 7
-    | Mm_GenLoc_start = 18386875
-    | Mm_GenLoc_end = 18405158
-    | Mm_Uniprot =
-  }}
-}}
-'''Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)''', also known as '''OPA3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80207| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+==References==
-{{PBB_Summary
+{{reflist}}
-| section_title =
-| summary_text =
-}}
-==References==
-{{reflist|2}}
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791  }}
-| citations =
+*{{cite journal  | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948  }}
-*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
+*{{cite journal   |vauthors=Kleta R, Skovby F, Christensen E, etal |title=3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings |journal=Mol. Genet. Metab. |volume=76 |issue= 3 |pages= 201–6 |year= 2003 |pmid= 12126933 |doi=10.1016/S1096-7192(02)00047-1  }}
-*{{cite journal  | author=Nystuen A, Costeff H, Elpeleg ON, ''et al.'' |title=Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. |journal=Hum. Mol. Genet. |volume=6 |issue= 4 |pages= 563-9 |year= 1997 |pmid= 9097959 |doi=  }}
+*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 }}
-*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
+*{{cite journal   |vauthors=GARCIN R, RAVERDY P, DELTHIL S, etal |title=[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms.] |journal=Rev. Neurol. (Paris) |volume=104 |issue=  |pages= 373–9 |year= 1998 |pmid= 13703570 |doi=  }}
-*{{cite journal  | author=Anikster Y, Kleta R, Shaag A, ''et al.'' |title=Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1218-24 |year= 2002 |pmid= 11668429 |doi=  }}
+*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |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=Kleta R, Skovby F, Christensen E, ''et al.'' |title=3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. |journal=Mol. Genet. Metab. |volume=76 |issue= 3 |pages= 201-6 |year= 2003 |pmid= 12126933 |doi=  }}
+*{{cite journal   |vauthors=Reynier P, Amati-Bonneau P, Verny C, etal |title=OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract |journal=J. Med. Genet. |volume=41 |issue= 9 |pages= e110 |year= 2005 |pmid= 15342707 |doi= 10.1136/jmg.2003.016576  | pmc=1735897 }}
-*{{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   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |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 }}
-*{{cite journal  | author=GARCIN R, RAVERDY P, DELTHIL S, ''et al.'' |title=[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms.] |journal=Rev. Neurol. (Paris) |volume=104 |issue=  |pages= 373-9 |year= 1998 |pmid= 13703570 |doi=  }}
+*{{cite journal   |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to Biology: A Functional Genomics Pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704  | pmc=528930 }}
-*{{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   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |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 }}
-*{{cite journal  | author=Reynier P, Amati-Bonneau P, Verny C, ''et al.'' |title=OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. |journal=J. Med. Genet. |volume=41 |issue= 9 |pages= e110 |year= 2005 |pmid= 15342707 |doi= 10.1136/jmg.2003.016576 }}
+*{{cite journal   |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139  | pmc=1347501 }}
-*{{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  | vauthors=Fink N, Mouallem M |title=[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor] |journal=Harefuah |volume=145 |issue= 6 |pages= 402–3, 472 |year= 2006 |pmid= 16838891 |doi=  }}
-*{{cite journal  | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
-*{{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=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
-*{{cite journal  | author=Fink N, Mouallem M |title=[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor] |journal=Harefuah |volume=145 |issue= 6 |pages= 402-3, 472 |year= 2006 |pmid= 16838891 |doi=  }}
-}}
 {{refend}}
-{{protein-stub}}
+==External links==
-{{WikiDoc Sources}}
+* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mga3  GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3]
+* [https://www.ncbi.nlm.nih.gov/omim/210000,258501,606580,258501,606580  OMIM entries on 3-Methylglutaconic Aciduria Type 3]
+{{gene-19-stub}}

OPA3: Difference between revisions

Latest revision as of 18:46, 22 September 2018

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See also

References

Further reading

External links

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