Rbp3 retinol binding protein 3, interstitial [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rbp3provided by MGI
Official Full Name: retinol binding protein 3, interstitialprovided by MGI
Primary source: MGI:MGI:97878
See related: Ensembl:ENSMUSG00000041534 AllianceGenome:MGI:97878
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Irbp; Rbp-3
Summary: Predicted to enable retinol binding activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular space and interphotoreceptor matrix. Predicted to be active in cone matrix sheath. Is expressed in eye; retina; retina nuclear layer; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in retinitis pigmentosa 66. Orthologous to human RBP3 (retinol binding protein 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 20.8 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (33675960..33686176)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (33954003..33964219)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These data demonstrate distinguishing features of retinal inflammation and T-cell immune responses involved in IRBP-induced EAU between B10.RIII and C57BL/6 strains.
Title: Comparative Analysis of the Interphotoreceptor Retinoid Binding ProteinInduced Models of Experimental Autoimmune Uveitis in B10.RIII versus C57BL/6 Mice.
The 629-643 RBP-3 peptide is a major uveitogenic peptide for the induction of autoimmune uveoretinitis in C57BL/6J mice and the persistent clinical disease induced with one peptide leads to epitope spreading.
Title: A novel pathogenic RBP-3 peptide reveals epitope spreading in persistent experimental autoimmune uveoretinitis.
We propose that down-regulation of IRBP may represent an early and novel pathogenic mechanism in degenerative retinal diseases
Title: Dysregulation of inter-photoreceptor retinoid-binding protein (IRBP) after induced Müller cell disruption.
Although death signaling proteins are increased, the caspase-dependent and independent apoptotic pathways are mildly activated in Irbp-deficient retinas.
Title: Receptor interacting protein kinase-mediated necrosis contributes to cone and rod photoreceptor degeneration in the retina lacking interphotoreceptor retinoid-binding protein.
Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).
Title: Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).
In addition to its role in the visual cycle, IRBP is needed for normal eye development.
Title: Exaggerated eye growth in IRBP-deficient mice in early development.
IRBP is essential to normal cone function and demonstrate that differences exist in the visual cycle of rods and cones.
Title: The interphotoreceptor retinoid binding (IRBP) is essential for normal retinoid processing in cone photoreceptors.
these findings suggest that IRBP plays an important role in the delivery of 11-cis-retinol to cones and can facilitate cone function in the presence of light
Title: Interphotoreceptor retinoid-binding protein as the physiologically relevant carrier of 11-cis-retinol in the cone visual cycle.
Activation of IRBP-specific T cells from mice immunized with uveitogenic IRBP(1-20) peptide under T-helper cell interleukin (IL)17-polarizing conditions is associated with increased expansion of T cells expressing the gamma delta T cell receptor.
Title: Major role of gamma delta T cells in the generation of IL-17+ uveitogenic T cells.
Data indicate that IRBP is essential to normal cone function and demonstrate that IRBP has a cone-specific visual cycle function.
Title: Normal cone function requires the interphotoreceptor retinoid binding protein.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC122612P3 (e-PCR)
- UniSTS:270404

Rbp3 (e-PCR), detects polymorphism
- UniSTS:536462

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables retinal binding	IEA Inferred from Electronic Annotation more info
enables retinol binding	IBA Inferred from Biological aspect of Ancestor more info
enables retinol binding	ISO Inferred from Sequence Orthology more info
enables serine-type peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cone matrix sheath	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in interphotoreceptor matrix	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: retinol-binding protein 3

Names: interphotoreceptor retinoid-binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015745.3 → NP_056560.1 retinol-binding protein 3 precursor

See identical proteins and their annotated locations for NP_056560.1

Status: VALIDATED

Source sequence(s)

AC166828

Consensus CDS

CCDS26929.1

UniProtKB/Swiss-Prot

P49194, Q6B4R6, Q8VD34, Q9R0H8

UniProtKB/TrEMBL

A0A0R4J0H3

Related

ENSMUSP00000040249.9, ENSMUST00000035695.10

Conserved Domains (1) summary

cd07563
Location:637 → 929

Peptidase_S41_IRBP; Interphotoreceptor retinoid-binding protein; serine protease family S41