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FLASH GENE

Symbol

OPN1SW

contributors: mct - updated : 09-06-2012

HGNC name	opsin 1 (cone pigments), short-wave-sensitive
HGNC id	1012

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCP tritanopia, blue color blindness
Location	7q32.1      Physical location : 128.412.544 - 128.415.844
Synonym name	blue cone photoreceptor pigment
	color blindness, tritan
	blue-sensitive opsin
Synonym symbol(s)	BOP, CBT

DNA

TYPE	functioning gene
STRUCTURE	3.30 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	RORA directly binds to the OPN1SW promoter

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001708 5 - 1114 NP_001699 39 348 - 2006 16574740

EXPRESSION

Type

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 Nervous brain         Skin/Tegument skin         Homo sapiens Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis     Homo sapiens Epithelial sensory visual

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual Muller cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

fetal eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

seven transmembrane segments (7TM) receptor

HOMOLOGY

interspecies

homolog to murine opn1sw

Homologene

FAMILY	G-protein coupled receptor 1 family
	opsin subfamily

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

short wave photon absorption with a maximum at 420n nm (in the violet)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	target gene for RORbeta, suggesting a key role for RORbeta in regulating opsin expression in the color visual system
	THRB is necessary for dorsal repression, but not ventral activation of S opsin (OPN1SW)
	under the control of nuclear receptors, including thyroid hormone receptor beta2 (THRB), retinoid X receptor gamma (RXRG), and RORbeta

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BCP

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS