VSX1: Difference between revisions

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{{Infobox_gene}}
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'''Visual system homeobox 1''' is a [[protein]] that in humans is encoded by the ''VSX1'' [[gene]].<ref name="pmid10673340">{{cite journal | vauthors = Semina EV, Mintz-Hittner HA, Murray JC | title = Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues | journal = Genomics | volume = 63 | issue = 2 | pages = 289–93 |date=Apr 2000 | pmid = 10673340 | pmc =  | doi = 10.1006/geno.1999.6093 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30813| accessdate = }}</ref>
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The [[protein]] encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone [[opsin]] genes early in development. [[Mutation]]s in this gene can cause [[posterior polymorphous corneal dystrophy]] (PPCD) and [[keratoconus]].<!--
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
--><ref name="pmid15623752">{{cite journal |vauthors=Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L |title=VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation |journal=[[Invest. Ophthalmol. Vis. Sci.]] |volume=46 |issue=1 |pages=39–45 |date=January 2005 |pmid=15623752 |doi=10.1167/iovs.04-0533 |url=http://www.iovs.org/cgi/pmidlookup?view=long&pmid=15623752}}</ref><ref name="KC2">{{cite journal  |vauthors=Héon E, Greenberg A, Kopp KK, etal |title=VSX1: a gene for posterior polymorphous dystrophy and keratoconus |journal=Hum. Mol. Genet. |volume=11 |issue= 9 |pages= 1029–36 |year= 2002 |pmid= 11978762 |doi=10.1093/hmg/11.9.1029  }}</ref><!--
{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Visual system homeobox 1 homolog, CHX10-like (zebrafish)
| HGNCid = 12723
| Symbol = VSX1
| AltSymbols =; PPCD; PPD; KTCN; RINX
| OMIM = 605020
| ECnumber =
| Homologene = 8743
| MGIid = 1890816
| GeneAtlas_image1 = PBB_GE_VSX1_221124_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005634 |text = nucleus}}  
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 30813
    | Hs_Ensembl = ENSG00000100987
    | Hs_RefseqProtein = NP_055403
    | Hs_RefseqmRNA = NM_014588
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 25004102
    | Hs_GenLoc_end = 25010996
    | Hs_Uniprot = Q9NZR4
    | Mm_EntrezGene = 114889
    | Mm_Ensembl = ENSMUSG00000033080
    | Mm_RefseqmRNA = NM_054068
    | Mm_RefseqProtein = NP_473409
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 150372140
    | Mm_GenLoc_end = 150380578
    | Mm_Uniprot = Q3U013
  }}
}}
'''Visual system homeobox 1 homolog, CHX10-like (zebrafish)''', also known as '''VSX1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30813| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
--> Two transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30813| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{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=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  }}
*{{cite journal  | author=Semina EV, Mintz-Hittner HA, Murray JC |title=Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. |journal=Genomics |volume=63 |issue= 2 |pages= 289-93 |year= 2000 |pmid= 10673340 |doi= 10.1006/geno.1999.6093 }}
*{{cite journal  | vauthors=Hayashi T, Huang J, Deeb SS |title=RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina |journal=Genomics |volume=67 |issue= 2 |pages= 128–39 |year= 2000 |pmid= 10903837 |doi= 10.1006/geno.2000.6248 }}
*{{cite journal  | author=Hayashi T, Huang J, Deeb SS |title=RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. |journal=Genomics |volume=67 |issue= 2 |pages= 128-39 |year= 2000 |pmid= 10903837 |doi= 10.1006/geno.2000.6248 }}
*{{cite journal   |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{cite journal | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{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=Héon E, Greenberg A, Kopp KK, ''et al.'' |title=VSX1: a gene for posterior polymorphous dystrophy and keratoconus. |journal=Hum. Mol. Genet. |volume=11 |issue= 9 |pages= 1029-36 |year= 2002 |pmid= 11978762 |doi=  }}
*{{cite journal   |vauthors=Mintz-Hittner HA, Semina EV, Frishman LJ, etal |title=VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells |journal=Ophthalmology |volume=111 |issue= 4 |pages= 828–36 |year= 2004 |pmid= 15051220 |doi= 10.1016/j.ophtha.2003.07.006 }}
*{{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=Mintz-Hittner HA, Semina EV, Frishman LJ, ''et al.'' |title=VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. |journal=Ophthalmology |volume=111 |issue= 4 |pages= 828-36 |year= 2004 |pmid= 15051220 |doi= 10.1016/j.ophtha.2003.07.006 }}
*{{cite journal   |vauthors=Bisceglia L, Ciaschetti M, De Bonis P, etal |title=VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 1 |pages= 39–45 |year= 2005 |pmid= 15623752 |doi= 10.1167/iovs.04-0533 }}
*{{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=Dorval KM, Bobechko BP, Ahmad KF, Bremner R |title=Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1 |journal=J. Biol. Chem. |volume=280 |issue= 11 |pages= 10100–8 |year= 2005 |pmid= 15647262 |doi= 10.1074/jbc.M412676200 }}
*{{cite journal | author=Bisceglia L, Ciaschetti M, De Bonis P, ''et al.'' |title=VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 1 |pages= 39-45 |year= 2005 |pmid= 15623752 |doi= 10.1167/iovs.04-0533 }}
*{{cite journal   |vauthors=Valleix S, Nedelec B, Rigaudiere F, etal |title=H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 1 |pages= 48–54 |year= 2006 |pmid= 16384943 |doi= 10.1167/iovs.05-0479 }}
*{{cite journal  | author=Dorval KM, Bobechko BP, Ahmad KF, Bremner R |title=Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. |journal=J. Biol. Chem. |volume=280 |issue= 11 |pages= 10100-8 |year= 2005 |pmid= 15647262 |doi= 10.1074/jbc.M412676200 }}
*{{cite journal   |vauthors=Aldave AJ, Yellore VS, Salem AK, etal |title=No VSX1 gene mutations associated with keratoconus |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 7 |pages= 2820–2 |year= 2006 |pmid= 16799019 |doi= 10.1167/iovs.05-1530 }}
*{{cite journal | author=Valleix S, Nedelec B, Rigaudiere F, ''et al.'' |title=H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 1 |pages= 48-54 |year= 2006 |pmid= 16384943 |doi= 10.1167/iovs.05-0479 }}
*{{cite journal   |vauthors=Barbaro V, Di Iorio E, Ferrari S, etal |title=Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 12 |pages= 5243–50 |year= 2007 |pmid= 17122109 |doi= 10.1167/iovs.06-0185 }}
*{{cite journal | author=Aldave AJ, Yellore VS, Salem AK, ''et al.'' |title=No VSX1 gene mutations associated with keratoconus. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 7 |pages= 2820-2 |year= 2006 |pmid= 16799019 |doi= 10.1167/iovs.05-1530 }}
*{{cite journal   |vauthors=Liskova P, Ebenezer ND, Hysi PG, etal |title=Molecular analysis of the VSX1 gene in familial keratoconus |journal=Mol. Vis. |volume=13 |issue=  |pages= 1887–91 |year= 2007 |pmid= 17960127 |doi=  }}
*{{cite journal | author=Barbaro V, Di Iorio E, Ferrari S, ''et al.'' |title=Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 12 |pages= 5243-50 |year= 2007 |pmid= 17122109 |doi= 10.1167/iovs.06-0185 }}
*{{cite journal | author=Liskova P, Ebenezer ND, Hysi PG, ''et al.'' |title=Molecular analysis of the VSX1 gene in familial keratoconus. |journal=Mol. Vis. |volume=13 |issue=  |pages= 1887-91 |year= 2007 |pmid= 17960127 |doi=  }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 15:41, 17 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.[1][2]

The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus.[3][4] Two transcript variants encoding different isoforms have been found for this gene.[2]

References

  1. ↑ Semina EV, Mintz-Hittner HA, Murray JC (Apr 2000). "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics. 63 (2): 289–93. doi:10.1006/geno.1999.6093. PMID 10673340.
  2. ↑ 2.0 2.1 "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)".
  3. ↑ Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L (January 2005). "VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation". Invest. Ophthalmol. Vis. Sci. 46 (1): 39–45. doi:10.1167/iovs.04-0533. PMID 15623752.
  4. ↑ Héon E, Greenberg A, Kopp KK, et al. (2002). "VSX1: a gene for posterior polymorphous dystrophy and keratoconus". Hum. Mol. Genet. 11 (9): 1029–36. doi:10.1093/hmg/11.9.1029. PMID 11978762.

Further reading



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