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Aliases for RBP3 Gene

Aliases for RBP3 Gene

  • Retinol Binding Protein 3 2 3 5
  • Interphotoreceptor Retinoid-Binding Protein 3 4
  • Retinol-Binding Protein 3 3 4
  • IRBP 3 4
  • Retinol Binding Protein 3, Interstitial 3
  • Retinol-Binding Protein 3, Interstitial 2
  • Interstitial Retinol Binding Protein 3 3
  • Interstitial Retinol-Binding Protein 3 2
  • Interstitial Retinol-Binding Protein 4
  • D10S64 3
  • D10S65 3
  • D10S66 3
  • RBPI 3
  • RP66 3

External Ids for RBP3 Gene

Previous GeneCards Identifiers for RBP3 Gene

  • GC10P047549
  • GC10P047678
  • GC10M048317
  • GC10M047776
  • GC10M048001
  • GC10M048381
  • GC10M043133

Summaries for RBP3 Gene

Entrez Gene Summary for RBP3 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]

GeneCards Summary for RBP3 Gene

RBP3 (Retinol Binding Protein 3) is a Protein Coding gene. Diseases associated with RBP3 include Retinitis Pigmentosa 66 and Retinitis Pigmentosa. Among its related pathways are Metabolism of fat-soluble vitamins and the visual cycle I (vertebrates). Gene Ontology (GO) annotations related to this gene include serine-type peptidase activity and retinal binding.

UniProtKB/Swiss-Prot for RBP3 Gene

  • IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.

Gene Wiki entry for RBP3 Gene

Additional gene information for RBP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBP3 Gene

Genomics for RBP3 Gene

GeneHancer (GH) Regulatory Elements for RBP3 Gene

Promoters and enhancers for RBP3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J047348 Promoter 0.6 EPDnew 600.7 0.0 -27 0.1 RCOR1 RBP3 GDF2
GH10J047346 Enhancer 0.4 FANTOM5 621 -1.5 -1494 0.2 POLR2A ZFX RBP3 ZNF488 GDF2
GH10J047104 Enhancer 0.7 Ensembl ENCODE 15.2 -242.6 -242571 3.6 SP1 RXRA MYC MAX GLUD1P2 RBP3 GDF10 GDF2 PTPN20 PIR48231 LOC105378291
GH10J047412 Enhancer 0.6 ENCODE 11.2 +64.7 64656 0.2 ELF3 NCOA3 SOX13 JUND MAX FOXA2 EP300 FOSL1 FOSL2 JUN LOC105378292 RBP3 AGAP9 ZNF488
GH10J047372 Enhancer 0.3 Ensembl 12.2 +24.7 24730 2.2 ZKSCAN1 ZNF488 RBP3 GDF2 GDF10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBP3 gene promoter:
  • E47
  • Evi-1
  • LCR-F1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • SRF
  • SRF (504 AA)
  • YY1
  • ZIC2

Genomic Locations for RBP3 Gene

Genomic Locations for RBP3 Gene
9,505 bases
Plus strand
9,505 bases
Minus strand

Genomic View for RBP3 Gene

Genes around RBP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBP3 Gene

Proteins for RBP3 Gene

  • Protein details for RBP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Retinol-binding protein 3
    Protein Accession:
    Secondary Accessions:
    • Q0QD34
    • Q5VSR0
    • Q8IXN0

    Protein attributes for RBP3 Gene

    1247 amino acids
    Molecular mass:
    135363 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC18875.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for RBP3 Gene

Post-translational modifications for RBP3 Gene

  • Glycosylation at isoforms=515 and posLast=205205
  • Modification sites at PhosphoSitePlus

Other Protein References for RBP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBP3 Gene

Domains & Families for RBP3 Gene

Gene Families for RBP3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for RBP3 Gene

Suggested Antigen Peptide Sequences for RBP3 Gene

GenScript: Design optimal peptide antigens:
  • Interstitial retinol binding protein 3 (Q0QD34_HUMAN)
  • Retinol-binding protein 3 (Q8IXN0_HUMAN)
  • Interstitial retinol-binding protein (RET3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S41A family.
  • Belongs to the peptidase S41A family.
genes like me logo Genes that share domains with RBP3: view

Function for RBP3 Gene

Molecular function for RBP3 Gene

UniProtKB/Swiss-Prot Function:
IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.
GENATLAS Biochemistry:
retinol binding protein 3,133kDa,interstitial,matrix of the retina (includes D10S64,D10S65,D10S66) (lipocalin family,Kernel group),monomer

Phenotypes From GWAS Catalog for RBP3 Gene

Gene Ontology (GO) - Molecular Function for RBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005501 retinoid binding TAS --
GO:0008236 serine-type peptidase activity IEA --
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IBA 21873635
genes like me logo Genes that share ontologies with RBP3: view
genes like me logo Genes that share phenotypes with RBP3: view

Human Phenotype Ontology for RBP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBP3 Gene

MGI Knock Outs for RBP3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBP3

Clone Products

  • Applied Biological Materials (abm): Clones for RBP3 - Now 50% OFF >
  • * RBP3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * RBP3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for RBP3 Gene

Localization for RBP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBP3 Gene

Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix. Note=Interphotoreceptor matrix that permeates the space between the retina and the contiguous layer of pigment epithelium cells.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBP3 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for RBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 23486466
GO:0033165 interphotoreceptor matrix IEA --
GO:0090658 cone matrix sheath IBA 21873635
GO:1903561 extracellular vesicle HDA 24769233
genes like me logo Genes that share ontologies with RBP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RBP3 Gene

Pathways & Interactions for RBP3 Gene

genes like me logo Genes that share pathways with RBP3: view

Pathways by source for RBP3 Gene

SIGNOR curated interactions for RBP3 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006508 proteolysis IEA --
GO:0006629 lipid metabolic process TAS 2542268
GO:0007601 visual perception TAS,IEA --
genes like me logo Genes that share ontologies with RBP3: view

Drugs & Compounds for RBP3 Gene

(10) Drugs for RBP3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 619
Beta carotene Approved Nutra Carrier, substrate 72
Lapachone Investigational Pharma Target 0

(6) Additional Compounds for RBP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RBP3: view

Transcripts for RBP3 Gene

mRNA/cDNA for RBP3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(70) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for RBP3 Gene

Retinol binding protein 3, interstitial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBP3

Clone Products

  • Applied Biological Materials (abm): Clones for RBP3 - Now 50% OFF >
  • * RBP3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * RBP3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for RBP3 Gene

No ASD Table

Relevant External Links for RBP3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RBP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBP3 Gene

mRNA differential expression in normal tissues according to GTEx for RBP3 Gene

This gene is overexpressed in Brain - Hippocampus (x6.0), Brain - Spinal cord (cervical c-1) (x5.0), Brain - Cortex (x4.2), and Brain - Substantia nigra (x4.2).

Protein differential expression in normal tissues from HIPED for RBP3 Gene

This gene is overexpressed in Vitreous humor (42.9) and Retina (25.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RBP3 Gene

Protein tissue co-expression partners for RBP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBP3 Gene:


SOURCE GeneReport for Unigene cluster for RBP3 Gene:


Evidence on tissue expression from TISSUES for RBP3 Gene

  • Eye(4.9)
  • Nervous system(2.8)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBP3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
  • penis
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RBP3: view

No data available for mRNA Expression by UniProt/SwissProt for RBP3 Gene

Orthologs for RBP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBP3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RBP3 34
  • 99.36 (n)
(Bos Taurus)
Mammalia RBP3 34
  • 85.43 (n)
(Canis familiaris)
Mammalia RBP3 34
  • 84.74 (n)
(Rattus norvegicus)
Mammalia Rbp3 34
  • 83.16 (n)
(Mus musculus)
Mammalia Rbp3 17 34
  • 82.33 (n)
(Gallus gallus)
Aves RBP3 34
  • 66.67 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rbp3 34
  • 60.57 (n)
(Danio rerio)
Actinopterygii irbpl 34
  • 55.53 (n)
Species where no ortholog for RBP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBP3 Gene

Gene Tree for RBP3 (if available)
Gene Tree for RBP3 (if available)
Evolutionary constrained regions (ECRs) for RBP3: view image

Paralogs for RBP3 Gene

No data available for Paralogs for RBP3 Gene

Variants for RBP3 Gene

Sequence variations from dbSNP and Humsavar for RBP3 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs111245635 uncertain-significance, Retinitis pigmentosa 66, - 47,349,521(+) G/A coding_sequence_variant, missense_variant
rs11204213 benign, not specified, - 47,351,134(+) G/A coding_sequence_variant, missense_variant
rs112888313 uncertain-significance, Retinitis pigmentosa 66, - 47,350,561(+) G/A/T coding_sequence_variant, missense_variant
rs113381589 uncertain-significance, Retinitis Pigmentosa, Recessive 47,355,511(+) G/A coding_sequence_variant, synonymous_variant
rs115562835 uncertain-significance, Retinitis Pigmentosa, Recessive 47,348,562(+) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for RBP3 Gene

Variant ID Type Subtype PubMed ID
nsv831861 CNV loss 17160897

Variation tolerance for RBP3 Gene

Residual Variation Intolerance Score: 77.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Human Gene Mutation Database (HGMD)

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBP3 Gene

Disorders for RBP3 Gene

MalaCards: The human disease database

(20) MalaCards diseases for RBP3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 66
  • rp66
retinitis pigmentosa
  • retinitis pigmentosa 1
  • infection by onchocerca volvulus
autoimmune uveitis
- elite association - COSMIC cancer census association via MalaCards
Search RBP3 in MalaCards View complete list of genes associated with diseases


  • Retinitis pigmentosa 66 (RP66) [MIM:615233]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:19074801, ECO:0000269 PubMed:23486466}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RBP3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBP3: view

No data available for Genatlas for RBP3 Gene

Publications for RBP3 Gene

  1. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. (PMID: 19074801) den Hollander AI … Berson EL (Investigative ophthalmology & visual science 2009) 3 4 23 58
  2. Characterization and comparative structural features of the gene for human interstitial retinol-binding protein. (PMID: 2303470) Fong SL … Bridges CD (The Journal of biological chemistry 1990) 3 4 23 58
  3. Hypomethylation of the interphotoreceptor retinoid-binding protein (IRBP) promotor and first exon is linked to expression of the gene. (PMID: 2402443) Albini A … Noonan DM (Nucleic acids research 1990) 3 4 23 58
  4. Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). (PMID: 23486466) Li S … Jin M (The Journal of biological chemistry 2013) 3 4 58
  5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M … Kato S (Investigative ophthalmology & visual science 2011) 3 4 58

Products for RBP3 Gene

Sources for RBP3 Gene

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