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FLASH GENE

Symbol

RLBP1

contributors: mct - updated : 03-12-2010

HGNC name	retinaldehyde binding protein 1
HGNC id	10024

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARRP7 retinitis pigmentosa autosomal recessive, 7 NFRCD newfoundland rod-cone dystrophy RPALB retinitis punctata albescens
Location	15q26.1      Physical location : 89.753.098 - 89.764.922
Synonym name	retinaldehyde-binding protein 1
	cellular retinaldehyde-binding protein
Synonym symbol(s)	CRALBP, MGC3663

DNA

TYPE	functioning gene
STRUCTURE	11.82 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
motif	repetitive sequence   ALU
text structure	high density of Alu elements, predisposing to deletions
	a powerful upstream enhancer element located -922 bases from the translation initiation site
	in RPE cells contain a noncoding exon in addition to a newly described promoter and, by definition, an additional intron

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000326 9 - 1752 NP_000317 36 317 - 2007 17652763

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 Endocrine neuroendocrine pituitary     moderately Nervous brain diencephalon epithalamus pineal gland lowly   nerve cranial nerve     moderately Skin/Tegument skin       moderately Visual eye       predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)   highly Homo sapiens Epithelial secretory glandular endocrine moderately Nervous central     lowly

cells

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

a CRAL-TRIO domain

HOMOLOGY

interspecies	homolog to rattus Rlbp1 (91.14 pc)
	homolog to murine Rlbp1 (90.82 pc)

Homologene

FAMILY

CATEGORY

RNA associated , signaling neurotransmitter

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	having a function in the rod visual cycle, determined by retinoid interactions
	carrying 11-cis-retinol and 11-cis-retinaldehyde as endogenous ligands
	functions as a retinoid carrier, assisting the oxidation
	of 11-cis-retinol to 11-cis-retinal in the next step of the visual cycle and preventing uncontrolled storage of
	11-cis-retinol by esterification
	essential for the proper function of both rod and cone
	photoreceptors
	may be a functional component of the visual cycle
	playing a critical role in the visual cycle by functioning as an acceptor of 11-cis-retinol from the isomerohydrolase reaction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein

bound to SLC9A3R1 (ERM (ezrin, radixin, moesin)-binding phosphoprotein 50 (EBP50), a PDZ domain protein, also known as sodium/hydrogen exchanger regulatory factory type 1 (NHERF-1))

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARRP7 , RPALB , NFRCD

related resource

RLBP1Mutations Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

promoter drives robust Müller glial green fluorescent protein expression in transgenic mice