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FLASH GENE

Symbol

RBP4

contributors: mct - updated : 13-11-2024

HGNC name	retinol binding protein 4, plasma
HGNC id	9922

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RDCCAS retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Location	10q23.33      Physical location : 95.351.593 - 95.360.993
Synonym name	retinol-binding protein 4, interstitial
Synonym symbol(s)	RBP, PRBP, MCOPCB10, RDCCAS

DNA

TYPE	functioning gene
STRUCTURE	10.05 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_006744 6 - 941 NP_006735 - 201 - 2023 37587250 NM_001323518 6 - 1009 NP_001310447 - 199 - 2023 37587250 NM_001323517 6 - 1015 NP_001310446 - 201 - 2023 37587250

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 Cardiovascular heart         Digestive liver       predominantly Homo sapiens Endocrine pancreas         Reproductive female system breast mammary gland

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cells

System Cell Pubmed Species Stage Rna symbol not specific adipocyte

cell lineage
cell lines
fluid/secretion	serum

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains

conjugated

GlycoP

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY	calycin superfamily
	lipocalin family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	delivery of retinol from the liver stores to peripheral tissues
	adipocyte-derived 'signal' that may contribute to the pathogenesis of type 2 diabetes
	adipokine, linking glucose uptake in adipocytes with systemic insulin sensitivity
	secreted by adipocytes, and associated with insulin resistance
	adipocytokine that may link obesity and insulin resistance
	RBP4 secretion was restricted to mature adipocytes, further indicating that RBP4 is strongly related to differentiation of adipocytes
	has a robust acute effect of enhancement of NO production via stimulation of part of the PI3K/Akt/eNOS pathway and inhibition of ERK1/2 phosphorylation which results in vasodilatation
	RBP4 and its membrane receptor STRA6 coordinate cellular retinol uptake
	retinol-dependent metabolic function of RBP4 that may have important implications for the treatment of obesity
	activates antigen-presenting cells, leading to adipose tissue inflammation and systemic insulin resistance)
	circulating retinol transporter that is strongly associated with insulin resistance
	is an adipokine that drives the development of hyperinsulinemia and type II diabetes in obesity patients
	act as a oncogene in ovarian cancer cells
	RBP4 is important for regulating cell differentiation, migration and invasion
	regulates trophoblastic cell proliferation and invasion via the PI3K/AKT signaling pathway
	major transport protein of the hydrophobic molecule retinol, also known as vitamin A, in the circulation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cell to cell transport

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

complexing with transthyretin

INTERACTION

DNA

RNA

small molecule

protein	retinol binding
	transthyretin binding prevents its loss by glumerular filtration
	PSMB1 is a transcriptional activator of RBP4
	retinol-free RBP4 (apo-RBP4) is a ligand that activates the STRA6 signaling cascade, inducing insulin resistance in gestational diabetes mellitus

cell & other

REGULATION

Other

variants of RBP4 putatively influence the age of onset of familial amyloid polyneuropathy

ASSOCIATED DISORDERS

corresponding disease(s)

RDCCAS , MCOPBC10

related resource

Retinal Information Network

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in type 2 diabetes tumoral     --low   silencing by methylation in esophageal squamous cell carcinoma constitutional     --low   maternal and umbilical cord serum RBP4 levels were lower in patients with preeclampsia than in normal pregnant women in the third trimester of pregnancy constitutional     --low   in familial partial lipodystrophy tumoral     --over   in ovarian cancer cells promoting cancer cell migration and proliferation constitutional     --over   in insulin resistance and contributes to increased diabetes risk constitutional     --over   in liver, subcutaneous adipose tissue (SAT), and visceral adipose tissue (VAT) in morbidly obese subjects

Susceptibility

to childhood obesity and cardiovascular risk factors

Variant & Polymorphism SNP	SNP rs3758538 is associated with obesity

Candidate gene	lowering RBP4 is a new strategy for treating tye 2 diabetes
Marker	RBP4 is a serum marker for ovarian cancer
Therapy target
	System Type Disorder Pubmed diabete     lowering RBP4 is a new strategy for treating tye 2 diabetes obesity     retinol-dependent metabolic function of RBP4 that may have important implications for the treatment of obesity neuromuscular     lowering RBP4 levels might serve as a promising therapeutic approach for prevention and treatment of muscle atrophy obesity     could be a molecular bridge between obesity and cancers and a potential target for treating obese cancer patients diabete type 2   lowering RBP4 could be a new strategy for treating type 2 diabetes with diabetic retinopathy (DR)

ANIMAL & CELL MODELS