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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
  • Interstitial Retinol-Binding Protein 3 2 3
  • IRBP 3 4
  • Retinol-Binding Protein 3, Interstitial 2
  • Retinol Binding Protein 3, Interstitial 3
  • Interstitial Retinol Binding Protein 3 3
  • Interstitial Retinol-Binding Protein 4
  • D10S64 3
  • D10S65 3
  • D10S66 3
  • RP66 3
  • RBPI 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 rbp3-related retinitis pigmentosa. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. 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

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

Genomics for RBP3 Gene

Regulatory Elements for RBP3 Gene

Genomic Location for RBP3 Gene

Chromosome:
10
Start:
47,348,371 bp from pter
End:
47,357,875 bp from pter
Size:
9,505 bases
Orientation:
Plus 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:
    P10745-RET3_HUMAN
    Recommended name:
    Retinol-binding protein 3
    Protein Accession:
    P10745
    Secondary Accessions:
    • Q0QD34
    • Q5VSR0
    • Q8IXN0

    Protein attributes for RBP3 Gene

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

neXtProt entry for RBP3 Gene

Proteomics data for RBP3 Gene at MOPED

Post-translational modifications for RBP3 Gene

  • Glycosylation at Asn 205 and Asn 515
  • Modification sites at PhosphoSitePlus

Other Protein References for RBP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RBP3 Gene

Domains & Families for RBP3 Gene

Protein Domains for RBP3 Gene

Suggested Antigen Peptide Sequences for RBP3 Gene

Graphical View of Domain Structure for InterPro Entry

P10745

UniProtKB/Swiss-Prot:

RET3_HUMAN :
  • Belongs to the peptidase S41A family.
Family:
  • Belongs to the peptidase S41A family.
genes like me logo Genes that share domains with RBP3: view

No data available for Gene Families for RBP3 Gene

Function for RBP3 Gene

Molecular function for RBP3 Gene

GENATLAS Biochemistry:
retinol binding protein 3,133kDa,interstitial,matrix of the retina (includes D10S64,D10S65,D10S66) (lipocalin family,Kernel group),monomer
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.

Gene Ontology (GO) - Molecular Function for RBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019841 retinol binding IEA --
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

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

COMPARTMENTS
Jensen Localization Image for RBP3 Gene COMPARTMENTS Subcellular localization image for RBP3 gene
Compartment Confidence
extracellular 3
endoplasmic reticulum 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with RBP3: view

Pathways & Interactions for RBP3 Gene

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

Pathways by source for RBP3 Gene

Interacting Proteins for RBP3 Gene

Selected Interacting proteins: P10745-RET3_HUMAN for RBP3 Gene via I2D

Symbol External ID(s) Details
NOTCH1

Gene Ontology (GO) - Biological Process for RBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007603 phototransduction, visible light TAS --
genes like me logo Genes that share ontologies with RBP3: view

No data available for SIGNOR curated interactions for RBP3 Gene

Drugs & Compounds for RBP3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved Nutra Target 413

(7) 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 where relevant :

Unigene Clusters for RBP3 Gene

Retinol binding protein 3, interstitial:
Representative Sequences:

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

No ASD Table

Relevant External Links for RBP3 Gene

GeneLoc Exon Structure for
RBP3
ECgene alternative splicing isoforms for
RBP3

Expression for RBP3 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for RBP3 Gene Hs.591928

genes like me logo Genes that share expression patterns with RBP3: view

Protein tissue co-expression partners for RBP3 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia RBP3 35
  • 85.43 (n)
  • 84.14 (a)
dog
(Canis familiaris)
Mammalia RBP3 35
  • 84.74 (n)
  • 85.12 (a)
mouse
(Mus musculus)
Mammalia Rbp3 35
  • 82.33 (n)
  • 85.53 (a)
Rbp3 16
chimpanzee
(Pan troglodytes)
Mammalia RBP3 35
  • 99.36 (n)
  • 99.68 (a)
rat
(Rattus norvegicus)
Mammalia Rbp3 35
  • 83.16 (n)
  • 86.33 (a)
chicken
(Gallus gallus)
Aves RBP3 35
  • 66.67 (n)
  • 66.26 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rbp3 35
  • 60.57 (n)
  • 60.98 (a)
zebrafish
(Danio rerio)
Actinopterygii irbpl 35
  • 55.53 (n)
  • 52.6 (a)
Species with no ortholog for RBP3:
  • 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

ENSEMBL:
Gene Tree for RBP3 (if available)
TreeFam:
Gene Tree for RBP3 (if available)

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 Sequence Context AA Info Type
VAR_035929 A colorectal cancer sample
rs11204213 - 47,351,134(-) GCCCA(C/T)CTGGT reference, missense
VAR_069669 -
VAR_069670 -
VAR_069671 -

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

Variant ID Type Subtype PubMed ID
dgv252e1 CNV Complex 17122850
nsv510991 OTHER Complex 20534489
nsv8636 CNV Gain+Loss 18304495
nsv436102 CNV Deletion 17901297
nsv7203 OTHER Inversion 18451855
esv2736163 CNV Deletion 23290073
nsv467059 CNV Gain 19166990
esv21870 CNV Gain+Loss 19812545
dgv696n71 CNV Gain 21882294
nsv895342 CNV Loss 21882294
nsv895343 CNV Gain 21882294
nsv895344 CNV Loss 21882294
nsv831861 CNV Loss 17160897
essv16333 CNV CNV 17122850

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)

Relevant External Links for RBP3 Gene

HapMap Linkage Disequilibrium report
RBP3
Human Gene Mutation Database (HGMD)
RBP3

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

Disorders for RBP3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RBP3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 66
  • rp66
rbp3-related retinitis pigmentosa
retinitis pigmentosa
  • retinitis pigmentosa 1
cerebellar medulloblastoma
onchocerciasis
  • infection by onchocerca volvulus
- elite association - COSMIC cancer census association via MalaCards
Search RBP3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RET3_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RBP3

Genetic Association Database (GAD)
RBP3
Human Genome Epidemiology (HuGE) Navigator
RBP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBP3
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 A.I. … Berson E.L. (Invest. Ophthalmol. Vis. Sci. 2009) 3 4 23 67
  2. Interphotoreceptor retinoid-binding protein (IRBP) is downregulated at early stages of diabetic retinopathy. (PMID: 19823802) Garcia-RamA-rez M. … SimA^ R. (Diabetologia 2009) 3 23
  3. Interphotoreceptor retinoid-binding protein as biomarker in systemic autoimmunity with eye inflictions. (PMID: 18266969) Descamps F.J. … Opdenakker G. (J. Cell. Mol. Med. 2008) 3 23
  4. Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate. (PMID: 15713799) Howard O.M. … Oppenheim J.J. (Blood 2005) 3 23
  5. Retinoid processing proteins in the ocular ciliary epithelium. (PMID: 15928609) Salvador-Silva M. … Coca-Prados M. (Mol. Vis. 2005) 23 25

Products for RBP3 Gene

Sources for RBP3 Gene

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