Vsx1 visual system homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vsx1provided by MGI
Official Full Name: visual system homeobox 1provided by MGI
Primary source: MGI:MGI:1890816
See related: Ensembl:ENSMUSG00000033080 AllianceGenome:MGI:1890816
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CHX10-like
Summary: Predicted to enable transcription cis-regulatory region binding activity. Acts upstream of or within neuron maturation; retinal bipolar neuron differentiation; and visual perception. Located in nucleus. Is expressed in several structures, including 1st branchial arch; eye; genitourinary system; hemolymphoid system; and lung. Human ortholog(s) of this gene implicated in corneal dystrophy; keratoconus; and posterior polymorphous corneal dystrophy 1. Orthologous to human VSX1 (visual system homeobox 1). [provided by Alliance of Genome Resources, Jan 2025]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 74.74 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (150522622..150531057, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (150680702..150689137, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vsx1 and Chx10 paralogs sequentially secure V2 interneuron identity during spinal cord development.
Title: Vsx1 and Chx10 paralogs sequentially secure V2 interneuron identity during spinal cord development.
Our results indicate that although VSX1 sequence variants can alter transcriptional activity, in the context of a mouse genetic model, at least one of these changes does not lead to corneal abnormalities. While we cannot exclude a role for VSX1 as a risk factor for corneal disease, on its own, it does not appear to play a major causative role.
Title: Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.
These findings reveal a role for Vsx1 in type 3a bipolar cells and suggest that Vsx1 function is required transiently in this cell type during the postnatal period.
Title: Requirement for the paired-like homeodomain transcription factor VSX1 in type 3a mouse retinal bipolar cell terminal differentiation.
findings indicate that Vsx1 regulates terminal gene expression in Type 7 bipolar cells and is necessary for proper ON visual signaling within a directionally selective circuit.
Title: Vsx1 regulates terminal differentiation of type 7 ON bipolar cells.
Although Vsx1 mRNA is upregulated in Chx10/Vsx2 deficient RPCs, Vsx1 does not genetically compensate for loss of Chx10/Vsx2, demonstrating that Prd-L:CVC genes, although important, are not absolutely required to initiate retinal development.
Title: Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.
Transcription factor visual system homeobox 1 homolog (Vsx1) controls specific aspects of visual function in the neural circuitry of the mammalian retina.
Title: Genetic control of circuit function: Vsx1 and Irx5 transcription factors regulate contrast adaptation in the mouse retina.
Vsx1 is required for cone bipolar cell differentiation and regulates photopic vision perception.
Title: Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1.
role in late differentiation and function of OFF-CB cells and is associated with a heritable OFF visual pathway-specific retinal defect
Title: Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Vsx1 (e-PCR), detects polymorphism
- UniSTS:233946

Vsx1 (e-PCR), detects polymorphism
- UniSTS:233972

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron maturation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retinal bipolar neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retinal bipolar neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: visual system homeobox 1

Names: homeodomain protein RINX; retinal inner nuclear layer homeobox protein; transcription factor VSX1; visual system homeobox 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.