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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

Corresponding disease	CAASDS craniofacial anomalies and anterior segment dysgenesis syndrome KTCN1 keratoconus 1
Location	20p11.21      Physical location : 25.056.099 - 25.062.767
Synonym name	retinal inner nuclear layer homeobox
	paired-like homeobox containing-gene
	visual system homeobox 1 homolog
	CHX10-like (zebrafish)
	transcription factor VSX1
	homeodomain protein RINX
	posterior polymorphous corneal dystrophy
Synonym symbol(s)	RINX, PPD, PPCD, P5-1025A1.1, CAASDS, KTCN, KTCN1, PPCD1

DNA

TYPE	functioning gene
STRUCTURE	12.44 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D20S486 - D20S844 - VSX1 - D20S191 - cen
Authors	Hayashi (00)

RNA

TRANSCRIPTS	type	messenger

text	two major alternatively spliced forms L1 and S1 and four alternative forms truncated L2, L3 and S3, one with alternative splicing

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_199425 3 splicing 943 NP_955457 24 239 - 2005 15647262 three exons transcript containing exon 3a (longer than 3b) lacking the 156 C-terminal amino acid of L1, replaced by a stretch of 30 residues encoding for the shortest product NM_014588 5 splicing 1956 NP_055403 38 365 visual system 2005 15647262 five exons transcript containing exon 3b (shorter than 3a) encoding for the largest product NM_001256271 4 - 2055 NP_001243200 - 236 - 2005 15647262 NM_001256272 5 - 2236 NP_001243201 - 301 - 2005 15647262

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