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FLASH GENE

Symbol

RBP3

contributors: shn/npt - updated : 21-12-2009

HGNC name	retinol binding protein 3, interstitial
HGNC id	9921

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a retinol binding domain
	four tandem homologous modules

HOMOLOGY

interspecies	ortholog to Rbp3, Mus musculus
	ortholog to Rbp3, Rattus norvegicus
	ortholog to RBP3, Pan troglodytes

Homologene

FAMILY	interphotoreceptor retinoid-binding protein family
	peptidase S41A family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix, in the space between RPE and retina

basic FUNCTION	essential for normal rod and cone function
	a role in the transport of retinoids between the photoreceptors and the retinal pigment epithelium
	may be involved in retinal development (Liou 1998)
	involved in energy metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	a role in the visual cycle

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	other,
	retinol
	fatty acids

protein

cell & other

REGULATION

inhibited by

ZNF239

repressed by

KLF15

ASSOCIATED DISORDERS

corresponding disease(s)

RP66

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function           -

Susceptibility

uveitis

Variant & Polymorphism	the mutation Asp1080Asn is associated with autosomal recessive retinitis pigmentosa (den Hollander 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Irbp-/- mice exhibit a significant loss of photorecetors and profound changes in the structure and organization of the outer segments. ERG show a marked reduction of cone and rod-mediated response amplitudes (Liou 1998)