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  2. RBP3 - retinol binding protein 3 Gene

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_N: N-terminal domain of Peptidase_S41 in eukaryotic IRBP (71 - 125)

Peptidase_S41

Peptidase_S41: Peptidase family S41 (129 - 305)

Peptidase_S41

Peptidase_S41: Peptidase family S41 (438 - 616)

Peptidase_S41

Peptidase_S41: Peptidase family S41 (743 - 918)

Peptidase_S41

Peptidase_S41: Peptidase family S41 (1041 - 1217)

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  • 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

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

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