RBP3

Protein identityUniProt · HPA

UniProt accession

P10745

Gene

RBP3

Ensembl

ENSG00000265203

Chromosome

10

Canonical length

1247 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted secreted proteins

Secretome location

Secreted in other tissues

OverviewNCBI Gene

Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1247 residues, UniProt reviewed canonical sequence.

>P10745|RBP3
     1  MMREWVLLMS VLLCGLAGPT HLFQPSLVLD MAKVLLDNYC FPENLLGMQE AIQQAIKSHE
    61  ILSISDPQTL ASVLTAGVQS SLNDPRLVIS YEPSTPEPPP QVPALTSLSE EELLAWLQRG
   121  LRHEVLEGNV GYLRVDSVPG QEVLSMMGEF LVAHVWGNLM GTSALVLDLR HCTGGQVSGI
   181  PYIISYLHPG NTILHVDTIY NRPSNTTTEI WTLPQVLGER YGADKDVVVL TSSQTRGVAE
   241  DIAHILKQMR RAIVVGERTG GGALDLRKLR IGESDFFFTV PVSRSLGPLG GGSQTWEGSG
   301  VLPCVGTPAE QALEKALAIL TLRSALPGVV HCLQEVLKDY YTLVDRVPTL LQHLASMDFS
   361  TVVSEEDLVT KLNAGLQAAS EDPRLLVRAI GPTETPSWPA PDAAAEDSPG VAPELPEDEA
   421  IRQALVDSVF QVSVLPGNVG YLRFDSFADA SVLGVLAPYV LRQVWEPLQD TEHLIMDLRH
   481  NPGGPSSAVP LLLSYFQGPE AGPVHLFTTY DRRTNITQEH FSHMELPGPR YSTQRGVYLL
   541  TSHRTATAAE EFAFLMQSLG WATLVGEITA GNLLHTRTVP LLDTPEGSLA LTVPVLTFID
   601  NHGEAWLGGG VVPDAIVLAE EALDKAQEVL EFHQSLGALV EGTGHLLEAH YARPEVVGQT
   661  SALLRAKLAQ GAYRTAVDLE SLASQLTADL QEVSGDHRLL VFHSPGELVV EEAPPPPPAV
   721  PSPEELTYLI EALFKTEVLP GQLGYLRFDA MAELETVKAV GPQLVRLVWQ QLVDTAALVI
   781  DLRYNPGSYS TAIPLLCSYF FEAEPRQHLY SVFDRATSKV TEVWTLPQVA GQRYGSHKDL
   841  YILMSHTSGS AAEAFAHTMQ DLQRATVIGE PTAGGALSVG IYQVGSSPLY ASMPTQMAMS
   901  ATTGKAWDLA GVEPDITVPM SEALSIAQDI VALRAKVPTV LQTAGKLVAD NYASAELGAK
   961  MATKLSGLQS RYSRVTSEVA LAEILGADLQ MLSGDPHLKA AHIPENAKDR IPGIVPMQIP
  1021  SPEVFEELIK FSFHTNVLED NIGYLRFDMF GDGELLTQVS RLLVEHIWKK IMHTDAMIID
  1081  MRFNIGGPTS SIPILCSYFF DEGPPVLLDK IYSRPDDSVS ELWTHAQVVG ERYGSKKSMV
  1141  ILTSSVTAGT AEEFTYIMKR LGRALVIGEV TSGGCQPPQT YHVDDTNLYL TIPTARSVGA
  1201  SDGSSWEGVG VTPHVVVPAE EALARAKEML QHNQLRVKRS PGLQDHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBP3 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)

0.27

Highest tissue expression

504 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBP3.

Disease | AllUniProt

Conditions RBP3 is implicated in, by any mechanism.

• Retinitis pigmentosa 66 (RP66) MIM:615233

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 1,107 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 66
• Retinal dystrophy
• Retinitis pigmentosa
• Cone-rod dystrophy
• Autosomal recessive retinitis pigmentosa

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)

0.65

gnomAD pLI

0

gnomAD missense Z

-0.42

DepMap mean gene effect

-0.17

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lipid metabolic process
• proteolysis
• retinoid metabolic process
• visual perception

Molecular functions

• retinal binding
• retinoid binding
• retinol binding
• serine-type peptidase activity

Cellular components

• extracellular region
• extracellular space
• extracellular vesicle
• cone matrix sheath

Protein domainsUniProt · Pfam · InterPro

• ClpP/crotonase-like domain superfamily
• Tail specific protease
• Peptidase family S41
• N-terminal domain of Peptidase_S41 in eukaryotic IRBP

KeywordsUniProt

• Extracellular matrix
• Glycoprotein
• Repeat
• Retinitis pigmentosa
• Secreted
• Signal
• Transport
• Vitamin A