OPHN1: Difference between revisions

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Revision as of 00:26, 7 September 2017

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.^[1]^[2]^[3]

Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation), particularly. in association with hypoplastic cerebellar features and commonly congenital strabismus^[3]

In 2014 www.OPHN1.org was formed as a patient advocacy and disease community group.

References

↑ Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D (Aug 1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". Eur J Hum Genet. 5 (2): 105–9. PMID 9195162.
↑ Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (May 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072.
↑ ^3.0 ^3.1 "Entrez Gene: OPHN1 oligophrenin 1".

Castellví-Bel S, Milà M (2001). "Genes responsible for nonspecific mental retardation". Mol. Genet. Metab. 72 (2): 104–8. doi:10.1006/mgme.2000.3128. PMID 11161835.
Ramakers GJ (2002). "Rho proteins, mental retardation and the cellular basis of cognition". Trends Neurosci. 25 (4): 191–9. doi:10.1016/S0166-2236(00)02118-4. PMID 11998687.
Bergmann C, Zerres K, Senderek J, et al. (2003). "Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia". Brain. 126 (Pt 7): 1537–44. doi:10.1093/brain/awg173. PMID 12805098.
Tentler D, Gustavsson P, Leisti J, et al. (1999). "Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia". Eur. J. Hum. Genet. 7 (5): 541–8. doi:10.1038/sj.ejhg.5200320. PMID 10439959.
Billuart P, Chelly J, Carrié A, et al. (2000). "Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation". Ann. Genet. 43 (1): 5–9. doi:10.1016/S0003-3995(00)00015-0. PMID 10818214.
Pinheiro NA, Caballero OL, Soares F, et al. (2001). "Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis". Cancer Lett. 172 (1): 67–73. doi:10.1016/S0304-3835(01)00625-5. PMID 11595131.
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.
Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.
Philip N, Chabrol B, Lossi AM, et al. (2003). "Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia". J. Med. Genet. 40 (6): 441–6. doi:10.1136/jmg.40.6.441. PMC 1735502. PMID 12807966.
Xiao J, Neylon CB, Nicholson GA, Furness JB (2004). "Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin". Neuroscience. 124 (4): 781–7. doi:10.1016/j.neuroscience.2004.01.007. PMID 15026118.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
Zanni G, Saillour Y, Nagara M, et al. (2006). "Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia". Neurology. 65 (9): 1364–9. doi:10.1212/01.wnl.0000182813.94713.ee. PMID 16221952.

In 2014 www.OPHN1.org was formed as a patient advocacy and disease community group.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

[pmid9195162-1] Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D (Aug 1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". Eur J Hum Genet. 5 (2): 105–9. PMID 9195162.

[pmid9582072-2] Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (May 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072.

[entrez-3] 3.0 ^3.1 "Entrez Gene: OPHN1 oligophrenin 1".

[1]

[2]

[3]

@@ Line 1: / Line 1: @@
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+{{Infobox_gene}}
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+'''Oligophrenin-1''' is a [[protein]] that in humans is encoded by the ''OPHN1'' [[gene]].<ref name="pmid9195162">{{cite journal |vauthors=Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D | title = Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation | journal = Eur J Hum Genet | volume = 5 | issue = 2 | pages = 105–9 |date=Aug 1997 | pmid = 9195162 | pmc =  | doi =  }}</ref><ref name="pmid9582072">{{cite journal |vauthors=Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J | title = Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation | journal = Nature | volume = 392 | issue = 6679 | pages = 923–6 |date=May 1998 | pmid = 9582072 | pmc =  | doi = 10.1038/31940 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OPHN1 oligophrenin 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4983| accessdate = }}</ref>
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- | image =
- | image_source =
- | PDB =
- | Name = Oligophrenin 1
- | HGNCid = 8148
- | Symbol = OPHN1
- | AltSymbols =; MRX60; OPN1
- | OMIM = 300127
- | ECnumber =
- | Homologene = 1913
-  | MGIid = 2151070
-  | Function = {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0005096 |text = GTPase activator activity}} {{GNF_GO|id=GO:0005100 |text = Rho GTPase activator activity}}
- | Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0015629 |text = actin cytoskeleton}}
- | Process = {{GNF_GO|id=GO:0006930 |text = substrate-bound cell migration, cell extension}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0007411 |text = axon guidance}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 4983
-    | Hs_Ensembl = ENSG00000079482
-    | Hs_RefseqProtein = NP_002538
-    | Hs_RefseqmRNA = NM_002547
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = X
-    | Hs_GenLoc_start = 67178911
-    | Hs_GenLoc_end = 67570372
-    | Hs_Uniprot = O60890
-    | Mm_EntrezGene = 94190
-    | Mm_Ensembl = ENSMUSG00000031214
-    | Mm_RefseqmRNA = NM_052976
-    | Mm_RefseqProtein = NP_443208
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = X
-    | Mm_GenLoc_start = 94760234
-    | Mm_GenLoc_end = 95093704
-    | Mm_Uniprot = Q8BQX4
-  }}
-}}
-'''Oligophrenin 1''', also known as '''OPHN1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: OPHN1 oligophrenin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4983| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
-| summary_text = Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked mental retardation.<ref name="entrez">{{cite web | title = Entrez Gene: OPHN1 oligophrenin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4983| accessdate = }}</ref>
+| summary_text = Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation), particularly. in association with hypoplastic cerebellar features and commonly congenital strabismus<ref name="entrez" />
 }}
+In 2014 [http://www.OPHN1.org www.OPHN1.org] was formed as a patient advocacy and disease community group.
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Castellví-Bel S, Milà M |title=Genes responsible for nonspecific mental retardation. |journal=Mol. Genet. Metab. |volume=72 |issue= 2 |pages= 104-8 |year= 2001 |pmid= 11161835 |doi= 10.1006/mgme.2000.3128 }}
+*{{cite journal  |vauthors=Castellví-Bel S, Milà M |title=Genes responsible for nonspecific mental retardation |journal=Mol. Genet. Metab. |volume=72 |issue= 2 |pages= 104–8 |year= 2001 |pmid= 11161835 |doi= 10.1006/mgme.2000.3128 }}
-*{{cite journal  | author=Ramakers GJ |title=Rho proteins, mental retardation and the cellular basis of cognition. |journal=Trends Neurosci. |volume=25 |issue= 4 |pages= 191-9 |year= 2002 |pmid= 11998687 |doi=  }}
+*{{cite journal  | author=Ramakers GJ |title=Rho proteins, mental retardation and the cellular basis of cognition |journal=Trends Neurosci. |volume=25 |issue= 4 |pages= 191–9 |year= 2002 |pmid= 11998687 |doi=10.1016/S0166-2236(00)02118-4  }}
-*{{cite journal  | author=Bergmann C, Zerres K, Senderek J, ''et al.'' |title=Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. |journal=Brain |volume=126 |issue= Pt 7 |pages= 1537-44 |year= 2003 |pmid= 12805098 |doi= 10.1093/brain/awg173 }}
+*{{cite journal  | author=Bergmann C |title=Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia |journal=Brain |volume=126 |issue= Pt 7 |pages= 1537–44 |year= 2003 |pmid= 12805098 |doi= 10.1093/brain/awg173  |name-list-format=vanc| author2=Zerres K  | author3=Senderek J  | display-authors=3  | last4=Rudnik-Schoneborn  | first4=S  | last5=Eggermann  | first5=T  | last6=Häusler  | first6=M  | last7=Mull  | first7=M  | last8=Ramaekers  | first8=VT }}
-*{{cite journal  | author=Bienvenu T, Der-Sarkissian H, Billuart P, ''et al.'' |title=Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. |journal=Eur. J. Hum. Genet. |volume=5 |issue= 2 |pages= 105-9 |year= 1997 |pmid= 9195162 |doi=  }}
+*{{cite journal  | author=Tentler D |title=Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia |journal=Eur. J. Hum. Genet. |volume=7 |issue= 5 |pages= 541–8 |year= 1999 |pmid= 10439959 |doi= 10.1038/sj.ejhg.5200320  |name-list-format=vanc| author2=Gustavsson P  | author3=Leisti J  | display-authors=3  | last4=Schueler  | first4=M  | last5=Chelly  | first5=J  | last6=Timonen  | first6=E  | last7=Annerén  | first7=G  | last8=Willard  | first8=H F  | last9=Dahl  | first9=N }}
-*{{cite journal  | author=Billuart P, Bienvenu T, Ronce N, ''et al.'' |title=Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. |journal=Nature |volume=392 |issue= 6679 |pages= 923-6 |year= 1998 |pmid= 9582072 |doi= 10.1038/31940 }}
+*{{cite journal  | author=Billuart P |title=Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation |journal=Ann. Genet. |volume=43 |issue= 1 |pages= 5–9 |year= 2000 |pmid= 10818214 |doi=10.1016/S0003-3995(00)00015-0  |name-list-format=vanc| author2=Chelly J  | author3=Carrié A  | display-authors=3  | last4=Vinet  | first4=M  | last5=Couvert  | first5=P  | last6=McDonell  | first6=N  | last7=Zemni  | first7=R  | last8=Kahn  | first8=A  | last9=Moraine  | first9=C  }}
-*{{cite journal  | author=Tentler D, Gustavsson P, Leisti J, ''et al.'' |title=Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 5 |pages= 541-8 |year= 1999 |pmid= 10439959 |doi= 10.1038/sj.ejhg.5200320 }}
+*{{cite journal  | author=Pinheiro NA |title=Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis |journal=Cancer Lett. |volume=172 |issue= 1 |pages= 67–73 |year= 2001 |pmid= 11595131 |doi=10.1016/S0304-3835(01)00625-5  |name-list-format=vanc| author2=Caballero OL  | author3=Soares F  | display-authors=3  | last4=Reis  | first4=Luis F.L  | last5=Simpson  | first5=Andrew John George  }}
-*{{cite journal  | author=Billuart P, Chelly J, Carrié A, ''et al.'' |title=Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. |journal=Ann. Genet. |volume=43 |issue= 1 |pages= 5-9 |year= 2000 |pmid= 10818214 |doi=  }}
+*{{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=Pinheiro NA, Caballero OL, Soares F, ''et al.'' |title=Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis. |journal=Cancer Lett. |volume=172 |issue= 1 |pages= 67-73 |year= 2001 |pmid= 11595131 |doi=  }}
+*{{cite journal  |vauthors=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281–9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}
-*{{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=Philip N |title=Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia |journal=J. Med. Genet. |volume=40 |issue= 6 |pages= 441–6 |year= 2003 |pmid= 12807966 |doi=10.1136/jmg.40.6.441  | pmc=1735502  |name-list-format=vanc| author2=Chabrol B  | author3=Lossi AM  | display-authors=3  | last4=Cardoso  | first4=C  | last5=Guerrini  | first5=R  | last6=Dobyns  | first6=WB  | last7=Raybaud  | first7=C  | last8=Villard  | first8=L  }}
-*{{cite journal  | author=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281-9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}
+*{{cite journal  |vauthors=Xiao J, Neylon CB, Nicholson GA, Furness JB |title=Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin |journal=Neuroscience |volume=124 |issue= 4 |pages= 781–7 |year= 2004 |pmid= 15026118 |doi= 10.1016/j.neuroscience.2004.01.007 }}
-*{{cite journal  | author=Philip N, Chabrol B, Lossi AM, ''et al.'' |title=Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. |journal=J. Med. Genet. |volume=40 |issue= 6 |pages= 441-6 |year= 2003 |pmid= 12807966 |doi=  }}
+*{{cite journal  | author=Ross MT |title=The DNA sequence of the human X chromosome |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440  | pmc=2665286  |name-list-format=vanc| author2=Grafham DV  | author3=Coffey AJ  | display-authors=3  | last4=Scherer  | first4=Steven  | last5=McLay  | first5=Kirsten  | last6=Muzny  | first6=Donna  | last7=Platzer  | first7=Matthias  | last8=Howell  | first8=Gareth R.  | last9=Burrows  | first9=Christine }}
-*{{cite journal  | author=Xiao J, Neylon CB, Nicholson GA, Furness JB |title=Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin. |journal=Neuroscience |volume=124 |issue= 4 |pages= 781-7 |year= 2004 |pmid= 15026118 |doi= 10.1016/j.neuroscience.2004.01.007 }}
+*{{cite journal  | author=Zanni G |title=Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia |journal=Neurology |volume=65 |issue= 9 |pages= 1364–9 |year= 2006 |pmid= 16221952 |doi= 10.1212/01.wnl.0000182813.94713.ee  |name-list-format=vanc| author2=Saillour Y  | author3=Nagara M  | display-authors=3  | last4=Billuart  | first4=P  | last5=Castelnau  | first5=L  | last6=Moraine  | first6=C  | last7=Faivre  | first7=L  | last8=Bertini  | first8=E  | last9=Durr  | first9=A }}
-*{{cite journal  | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
-*{{cite journal  | author=Zanni G, Saillour Y, Nagara M, ''et al.'' |title=Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. |journal=Neurology |volume=65 |issue= 9 |pages= 1364-9 |year= 2006 |pmid= 16221952 |doi= 10.1212/01.wnl.0000182813.94713.ee }}
 }}
 {{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
+}}
+In 2014 [http://www.OPHN1.org www.OPHN1.org] was formed as a patient advocacy and disease community group.
+{{gene-X-stub}}

OPHN1: Difference between revisions

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