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FLASH GENE

Symbol

VSX1

contributors: npt/mct/shn - updated : 19-03-2019

HGNC name	visual system homeobox 1
HGNC id	12723

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina     highly Homo sapiens   eye anterior segment cornea   highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective       moderately Epithelial         Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	craniofacial, corneal tissue, fetal eyes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an octapeptide, a proline-rich
	an acid rich region
	a nuclear localization signal (NLS)
	the helix-turn helix homeodomain
	a CVC domain (goldfish ca-Vsx1, Vsx2)
	a C terminal conserved RV (RINX-VSX1) domain

HOMOLOGY

interspecies	ortholog to Vsx1, Mus musculus
	ortholog to vsx1, Danio rerio
	ortholog to Vsx1, Rattus norvegicus
	ortholog to VSX1, Pan troglodytes

intraspecies

homolog to CHX10,CRX

Homologene

FAMILY	vertebrate paired-like homeodomain transcription factor family
	paired homeobox family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION	playing a role in the development of cone cells
	required for the late differentiation and function of OFF-cone bipolar cells and associated with a heritable OFF visual pathway-specific retinal defect
	with IRX5, control specific aspects of visual function in circuits of the mammalian retina (Kerschensteiner 2008)
	may have an important role in the pathogenesis of keratoconus (

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA	binding to locus control region of the cone pigment cluster LCR-RGCP@

RNA

small molecule

protein	VSX2
	VSX1 has likely a partial inhibitory effect on the expression of IRX6
	IRX6 can activate or repress transcription through Iroquois-binding sites found proximal to RCVRN, VSX1 and TACR3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CAASDS , KTCN1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS