Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.[5][6]
| VSX1 |
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| Identifiers |
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| Aliases | VSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1 |
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| External IDs | OMIM: 605020 MGI: 1890816 HomoloGene: 8743 GeneCards: VSX1 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 20 (human)[1] |
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| | Band | 20p11.21 | Start | 25,070,885 bp[1] |
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| End | 25,082,365 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 2 (mouse)[2] |
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| | Band | 2 G3|2 74.74 cM | Start | 150,680,702 bp[2] |
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| End | 150,689,360 bp[2] |
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| RNA expression pattern |
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 | | More reference expression data |
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| Gene ontology |
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| Molecular function | • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity
• sequence-specific DNA binding
• DNA binding
• chromatin binding
• GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific
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| Cellular component | • cell nucleus
• cellular component
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| Biological process | • multicellular organism development
• transcription, DNA-templated
• response to stimulus
• visual perception
• neuron maturation
• retinal bipolar neuron differentiation
• regulation of transcription, DNA-templated
• neuron development
• regulation of transcription from RNA polymerase II promoter
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| Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_001256271
NM_001256272
NM_014588
NM_199425
NM_001378633 |
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| RefSeq (protein) | |
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NP_001243200
NP_001243201
NP_055403
NP_955457
NP_001365562 |
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| Location (UCSC) | Chr 20: 25.07 – 25.08 Mb | Chr 2: 150.68 – 150.69 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus.[7][8] Two transcript variants encoding different isoforms have been found for this gene.[6]
