RBP4

Protein identityUniProt · HPA

UniProt accession

P02753

Gene

RBP4

Ensembl

ENSG00000138207

Chromosome

10

Canonical length

201 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins, Transporters

Secretome location

Secreted to blood

OverviewNCBI Gene

This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

201 residues, UniProt reviewed canonical sequence.

>P02753|RBP4
     1  MKWVWALLLL AALGSGRAER DCRVSSFRVK ENFDKARFSG TWYAMAKKDP EGLFLQDNIV
    61  AEFSVDETGQ MSATAKGRVR LLNNWDVCAD MVGTFTDTED PAKFKMKYWG VASFLQKGND
   121  DHWIVDTDYD TYAVQYSCRL LNLDGTCADS YSFVFSRDPN GLPPEAQKIV RQRQEELCLA
   181  RQYRLIVHNG YCDGRSERNL L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBP4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

11,054 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBP4.

Disease | AllUniProt

Conditions RBP4 is implicated in, by any mechanism.

• Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) MIM:615147
• Microphthalmia/Coloboma 10 (MCOPCB10) MIM:616428

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 198 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Microphthalmia, isolated, with coloboma 10
• Progressive retinal dystrophy due to retinol transport defect
• Bilateral microphthalmos
• Retinal dystrophy
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.59

gnomAD pLI

0.52

gnomAD missense Z

0.78

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle tissue development
• detection of light stimulus involved in visual perception
• embryonic organ morphogenesis
• embryonic retina morphogenesis in camera-type eye
• embryonic skeletal system development
• eye development
• female genitalia morphogenesis
• gluconeogenesis
• glucose homeostasis
• heart development
• heart trabecula formation
• lung development
• maintenance of gastrointestinal epithelium
• male gonad development
• negative regulation of cardiac muscle cell proliferation
• phototransduction, visible light
• positive regulation of immunoglobulin production
• positive regulation of insulin secretion
• response to ethanol
• response to insulin
• response to muscle activity
• response to retinoic acid
• response to xenobiotic stimulus
• retinal metabolic process
• retinol metabolic process
• retinol transport
• spermatogenesis
• urinary bladder development
• uterus development
• vagina development
• vitamin A import into cell

Molecular functions

• molecular carrier activity
• protein-containing complex binding
• retinal binding
• retinol binding
• retinol transmembrane transporter activity

Cellular components

• extracellular exosome
• extracellular region
• extracellular space
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Lipocalin/cytosolic fatty-acid binding domain
• Calycin
• Lipocalin, ApoD type
• Lipocalin family conserved site
• Lipocalin / cytosolic fatty-acid binding protein family
• Retinol binding protein/Purpurin

KeywordsUniProt

• Disulfide bond
• Methylation
• Microphthalmia
• Retinol-binding
• Secreted
• Sensory transduction
• Signal
• Transport
• Vision
• Vitamin A

InteractionsUniProt · HPA

Protein binding partners of RBP4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• STRA6
• TTR