RBP3 - retinol binding protein 3 Gene

Homo sapiens

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

Gene ID: 5949 | Gene type: protein coding

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

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

Recombinant RBP3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71104	RBP3 Protein, Human (His)	P10745 (T321-L630)	≥95%

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

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