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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

DNA

TYPE	functioning gene
STRUCTURE	9.50 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D10S1413 - D10S225 - RBP3 - D10S175 -D10S1754 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002900 4 - 4289 NP_002891 135 1247 photoreceptors and interphotoreceptor matrix Bunt-Milam 1983

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 Visual eye retina     specific

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Epithelial barrier lining retinal pigment epithelium (RPE)   highly

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

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)