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FLASH GENE

Symbol

RBP1

contributors: np/mct - updated : 28-10-2010

HGNC name	retinol binding protein 1, cellular
HGNC id	9919

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	22.40 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130992 3 - 1487 NP_001124464 - 157 - 1999 10487743 isoform b NM_002899 4 - 916 NP_002890 - 197 - 1999 10487743 NM_001130993 3 - 667 NP_001124465 - 153 - 1999 10487743

EXPRESSION

Type

widely

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 Digestive mouth tongue         pancreas exocrine         Visual eye       highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol not specific adipocyte Visual Muller cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		other
STRUCTURE

motifs/domains

an internal ligand binding site

secondary structure

a single eight-stranded continuously hydrogen-bonded antiparallel beta-barrel

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to murine Rbp1
	ortholog to rattus rbp1

Homologene

FAMILY

cellular, lipocalin family, Kernel group

CATEGORY

chaperone/stress , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	essential for vitamin A homeostasis
	involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue
	reducing the oxidation of all-trans retinol by RDH12
	small cytosolic binding protein for retinol and retinaldehyde, specifically expressed in preadipocytes that regulates adipocyte differentiation in part by affecting PPARG activity
	influences photoreceptor outer segment assembly through a mechanism unrelated to rhodopsin regeneration, and have a role in modulating the proper folding of nascent outer segment membranes through retinoic acid
	having an important role as a non-transcriptionally active preadipocyte factor that is involved in adipocyte differentiation
	play different roles in the maintenance of vitamin A homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

vitamin

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds retinol and its immediate oxidation product retinaldehyde
	binds to the pocket region of RB1 via an LXCXE motif and to the SAP30 subunit of the mSin3·HDAC complex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   early in cervical carcinogenesis constitutional       loss of function leads to a proadipogenic phenotype with significantly enhanced adipocyte differentiation and increased intracellular TG accumulation due to augmented PPAR{gamma} activity

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS