RBP3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
RBP3
Official Name
retinol binding protein 3 [Source:HGNC Symbol;Acc:HGNC:9921]
Ensembl ID
ENSG00000265203
Bio databases IDs NCBI: 5949 Ensembl: ENSG00000265203
Aliases retinol binding protein 3, interstitial retinol-binding protein 3
Synonyms D10S64, D10S65, D10S66, IRBP, RBPI, retinol binding protein 3, retinol binding protein 3, interstitial, RP66
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RBP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • N-terminal domain of Peptidase_S41 in eukaryotic IRBP
  • C-terminal processing peptidase family S41
  • retinol binding
  • Peptidase family S41
  • protein binding
  • retinoid binding
  • transporter

Pathways

Biological processes and signaling networks where the RBP3 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • retinitis pigmentosa type 66
  • retinal dystrophy
  • experimental autoimmune uveitis
  • systemic lupus erythematosus
  • experimental autoimmune uveoretinitis
  • Kawasaki disease
  • retinitis pigmentosa
  • congenital stationary night blindness
  • cone-rod dystrophy
  • autosomal recessive retinitis pigmentosa
regulated by
role in cell
  • expression in
  • apoptosis
  • degeneration
  • production in
  • cellular infiltration by
  • number
  • quantity
  • morphology
  • proliferation
  • phosphorylation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • interphotoreceptor matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RBP3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • retinoid metabolic process
  • lipid metabolic process
  • proteolysis
  • visual perception

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • serine-type peptidase activity
  • retinal binding
  • retinol binding
  • retinoid binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.