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Aliases for RBP3 Gene

Aliases for RBP3 Gene

  • Retinol Binding Protein 3, Interstitial 2 3
  • Interphotoreceptor Retinoid-Binding Protein 3 4
  • RP66 3 6
  • IRBP 3 4
  • Retinol-Binding Protein 3, Interstitial 2
  • Interstitial Retinol-Binding Protein 4
  • Retinol-Binding Protein 3 3
  • D10S64 3
  • D10S65 3
  • D10S66 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, Interstitial) 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 Disease. GO annotations related to this gene include serine-type peptidase activity and retinoid 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn205 and Asn515
  • Modification sites at PhosphoSitePlus

Other Protein References for RBP3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RBP3 Gene

Domains 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 :
  • P10745
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:0005501 retinoid binding TAS 2542268
GO:0008236 serine-type peptidase activity IEA --
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IEA --
genes like me logo Genes that share ontologies with RBP3: view

Phenotypes for RBP3 Gene

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

Animal Models for RBP3 Gene

MGI Knock Outs for RBP3:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 5
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
plasma membrane 1

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:0031982 vesicle IDA 24769233
GO:0033165 interphotoreceptor matrix IEA --
genes like me logo Genes that share ontologies with RBP3: view

Pathways 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:0006508 proteolysis IEA --
GO:0006629 lipid metabolic process TAS 2542268
GO:0006810 transport IEA --
GO:0007601 visual perception TAS 2542268
genes like me logo Genes that share ontologies with RBP3: view

Compounds for RBP3 Gene

(1) Drugbank Compounds for RBP3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(15) Novoseek inferred chemical compound relationships for RBP3 Gene

Compound -log(P) Hits PubMed IDs
retinoid 87.3 93
vitamin a 72 60
11-cis-retinol 67.9 2
retinaldehyde 54.3 3
docosahexaenoic acid 31.9 2
genes like me logo Genes that share compounds with RBP3: view

Transcripts for RBP3 Gene

mRNA/cDNA for RBP3 Gene

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

Unigene Clusters for RBP3 Gene

Retinol binding protein 3, interstitial:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RBP3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for RBP3

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Hippocampus (6.0), Brain - Spinal cord (cervical c-1) (5.0), Brain - Cortex (4.2), and Brain - Substantia nigra (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for RBP3 Gene

SOURCE GeneReport for Unigene cluster for RBP3 Gene Hs.591928

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

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
chimpanzee
(Pan troglodytes)
Mammalia RBP3 35
  • 99.36 (n)
  • 99.68 (a)
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
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 MAF
rs3494 -- 47,357,676(+) GCTTT(C/T)CAATA utr-variant-3-prime
rs1042224 -- 47,357,622(+) cacac(A/G)tgtat utr-variant-3-prime
rs1870179 -- 47,347,313(+) ACCCA(C/T)ATTAT upstream-variant-2KB
rs2070705 -- 47,353,071(+) GGCCT(C/T)CTAGC intron-variant
rs2070706 -- 47,353,252(+) TTCCC(A/G)TGGCG intron-variant

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

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

(1) OMIM Diseases for RBP3 Gene (180290)

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.

(2) University of Copenhagen DISEASES for RBP3 Gene

(24) Novoseek inferred disease relationships for RBP3 Gene

Disease -log(P) Hits PubMed IDs
uveitis 86.4 37
onchocerciasis ocular 79.4 1
retinoblastoma 69.2 18
pineal tumors 65.8 2
autoimmune response 62.7 4

Relevant External Links for RBP3

Genetic Association Database (GAD)
RBP3
Human Genome Epidemiology (HuGE) Navigator
RBP3
genes like me logo Genes that share disorders with RBP3: view

Publications for RBP3 Gene

  1. Hypomethylation of the interphotoreceptor retinoid-binding protein (IRBP) promotor and first exon is linked to expression of the gene. (PMID: 2402443) Albini A. … Noonan D.M. (Nucleic Acids Res. 1990) 3 4 23
  2. Characterization and comparative structural features of the gene for human interstitial retinol-binding protein. (PMID: 2303470) Fong S.-L. … Bridges C.D.B. (J. Biol. Chem. 1990) 3 4 23
  3. 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
  4. 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
  5. Human interstitial retinoid-binding protein. Gene structure and primary structure. (PMID: 2542268) Liou G.I. … Baehr W. (J. Biol. Chem. 1989) 3 4

Products for RBP3 Gene

Sources for RBP3 Gene

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