RBP3 - retinol binding protein 3 Gene

Also Known as IRBP; RBPI; RP66; D10S64; D10S65; D10S66

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5949

About RBP3

Cytogenetic location: 10q11.22 Genomic coordinates (GRCh38): 10:47,348,363-47,357,881 (from NCBI)

This gene has 1 transcript (splice variant), 237 orthologues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

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]

RBP3 Products (1)

mRNA	Protein	Name
NM_002900.3	NP_002891.1	retinol-binding protein 3 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	23486466	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RBP3 Protein Structure

Peptidase_S41_N

Peptidase_S41

0
200
400
600
800
1000
1247 a.a.

Protein Preferred Names	Protein Names
retinol-binding protein 3	interphotoreceptor retinoid-binding protein

RBP3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RBP3	P10745	KRTAP10-5	Homo sapiens	P60370	Validated Y2H	32296183
Intra	RBP3	P10745	CREB5	Homo sapiens	Q02930-3	Validated Y2H	32296183
Intra	RBP3	P10745	NID2	Homo sapiens	Q8IV28	Validated Y2H	32296183
Intra	RBP3	P10745	KPRP	Homo sapiens	Q5T749	Validated Y2H	32296183
Intra	RBP3	P10745	SPAG8	Homo sapiens	Q99932-2	Validated Y2H	32296183
Intra	RBP3	P10745	POU4F2	Homo sapiens	Q12837	Validated Y2H	32296183
Intra	RBP3	P10745	HSD3B7	Homo sapiens	Q9H2F3	Validated Y2H	32296183
Intra	RBP3	P10745	CDC23	Homo sapiens	Q9UJX2	Validated Y2H	32296183
Intra	RBP3	P10745	HOXA1	Homo sapiens	P49639	Validated Y2H	32296183
Intra	RBP3	P10745	PLSCR4	Homo sapiens	Q9NRQ2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RBP3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71104	RBP3 Protein, Human (His)	P10745 (T321-L630)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 66	RP66 Retinitis Pigmentosa, Type 66
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Uveitis
Onchocerciasis	Infection By Onchocerca Volvulus River Blindness Onchocerca Volvulus Infection Volvulosis Robles' Disease Onchocerciasis, Ocular Robles Disease Onchocercosis Blinding Filariasis Robles Onchocerca Infestation Craw-Craw
Chorioretinitis	Retinochoroiditis
Sympathetic Ophthalmia	Sympathetic Uveitis Ophthalmia, Sympathetic Sympathetic Iridocyclitis Sympathetic Endophthalmitis
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Autoimmune Disease Of Eyes, Ear, Nose And Throat
Hypopyon
Chronic Endophthalmitis
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Retinoblastoma	RB Trilateral Retinoblastoma RB1 Retinoblastoma, Trilateral Neuroblastoma Of Retina Rb - Retinoblastoma Eye Cancer, Retinoblastoma Retinal Cancer Retinal Tumor Glioma, Retinal Non-Hereditary Retinoblastoma Childhood Cancer Retinoblastoma Malignant Neoplasm Of Retina Retinal Neoplasms
Autoimmune Uveitis
Eales Disease	Idiopathic Obliterative Vasculopathy Idiopathic Recurrent Vitreal Hemorrhage Idiopathic Retinal Perivasculitis Idiopathic Retinal Vasculitis
Iridocyclitis	Primary Iridocyclitis
Purulent Endophthalmitis	Periocular Infection Acute Endophthalmitis Endophthalmia Eye Infestation Nos Intraocular Infection Eye Infection Nos
Uveal Disease	Uveal Diseases
Retinal Degeneration	Degeneration Of Retina
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease
Optic Papillitis	Papillitis Papilledema
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Anterior Uveitis	Iridocyclitis Uveitis, Anterior Acute Anterior Uveitis Uveokeratitis Keratouveitis Cyclitis Intraocular Inflammation Kerato-Uveitis Keratoiritis Iritis Uveitis Nos Uveal Inflammation Anterior Chamber Cell
Sclerosing Keratitis	Sclerokeratitis
Panuveitis	Diffuse Uveitis Total Uveitis Inflammation Of The Whole Uveal Tract
Choroiditis	Posterior Uveitis
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Multiple Endocrine Neoplasia, Type Iia	Multiple Endocrine Neoplasia Type 2a Sipple Syndrome Multiple Endocrine Neoplasia Type 2 MEN2A Men2 Ptc Syndrome Multiple Endocrine Neoplasia, Type 2 Multiple Endocrine Neoplasia Iia Men 2a Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia, Type 2a Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia Ii Men2 Syndrome Men-2a Syndrome Multiple Neoplasia 2a Multiple Neoplasia Type 2
Birdshot Chorioretinopathy	Birdshot Chorioretinitis Bscr Birdshot Retinochoroiditis Birdshot Retinochoroidopathy Vitiliginous Choroiditis Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around The Optic Disk
Posterior Uveitis	Uveitis, Posterior Choroiditis Uveitis Posterior
Night Blindness	Nyctalopia
Vogt-Koyanagi-Harada Disease	Uveomeningoencephalitic Syndrome Uveomenigitic Syndrome Vogt-Koyanagi-Harada Syndrome Harada'S Disease Vogt-Koyanagi Syndrome Vkh Disease Vkh Syndrome Vkh
Panophthalmitis
Intermediate Uveitis	Uveitis, Intermediate Chronic Cyclitis Peripheral Uveoretinitis Iu Uveitis Intermediate
Retinal Vasculitis
Pars Planitis	Posterior Cyclitis Vitritis Intermediate Uveitis Peripheral Retinal Inflammation Uveitis, Intermediate
Ocular Tuberculosis
Deep Keratitis
Iritis
Scleral Disease	Scleral Diseases
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
Blood Group, Globoside System	Globe Disease GLOB Blood Group System, Globoside
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Endophthalmitis
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Sensory System Disease
Eye Degenerative Disease
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Diamond-Blackfan Anemia 1	Aase Syndrome DBA1 Erythrogenesis Imperfecta Aase-Smith Syndrome Ii Dba Blackfan-Diamond Syndrome Bds Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Anemia, Congenital Erythroid Hypoplastic Red Cell Aplasia, Pure, Hereditary Aregenerative Anemia, Chronic Congenital Rps19-Related Diamond-Blackfan Anemia Chronic Congenital Aregenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Pure Hereditary Red Cell Aplasia Anemia, Diamond-Blackfan, Type 1 Anemia, Diamond-Blackfan Aase Smith Syndrome 2 Familial Hypoplastic Anaemia With Malformations Constitutional Pure Red Cell Aplasia
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04110	E2F1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11768	RBP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20809	Rbp3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27323	Rbp3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RBP3	RGD	RGD:3545
Mus musculus	RBP3	MGD	MGI:97878
Felis catus	RBP3	VGNC	VGNC:69273
Bos taurus	RBP3	VGNC	VGNC:33814
Canis familiaris	RBP3	VGNC	VGNC:45431
Macaca mulatta	RBP3	VGNC	VGNC:76689
Others	RBP3	NCBI