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  2. RBP3 - retinol binding protein 3 Gene

RBP3 - retinol binding protein 3 Gene

中文名称:视黄醇结合蛋白 3

种属: Homo sapiens

同用名: IRBP; RBPI; RP66; D10S64; D10S65; D10S66

基因 ID: 5949 | 基因类型: protein coding

关于 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.

功能概要

感光器间视黄醇结合蛋白是一种已知结合类视黄醇的大糖蛋白,主要存在于视网膜色素上皮细胞和感光器细胞之间的视网膜感光器间基质中。它被认为在视网膜色素上皮细胞和光感受器之间运输类视黄醇,这在视觉过程中起着关键作用。人类 IRBP 基因的长度约为 9.5 kbp,由四个外显子和三个内含子隔开组成。内含子长 1.6-1.9 kbp。该基因由感光细胞和视网膜母细胞瘤细胞转录成大约 4.3 千碱基的 mRNA,该 mRNA 被翻译和加工成 135,000 Da 的糖基化蛋白质。人类 IRBP 的氨基酸序列可分为四个连续的同源结构域,同一性为 33-38%,表明存在一系列基因复制事件。在该基因中,这些结构域的边界并不像预期的那样由外显子-内含子连接定义。前三个同源域和第四个的部分都由第一个大外显子编码,长 3,180 个碱基对。第四个域的其余部分编码在最后三个外显子中,它们的长度分别为 191、143 和大约 740 个碱基对。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_002900.3 NP_002891.1 retinol-binding protein 3 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
23486466 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RBP3 蛋白结构

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.
蛋白主名 其他名称

retinol-binding protein 3

interphotoreceptor retinoid-binding protein

RBP3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RBP3 P10745 KRTAP10-5 Homo sapiens P60370
Validated Y2H
32296183
种属内
RBP3 P10745 CREB5 Homo sapiens Q02930-3
Validated Y2H
32296183
种属内
RBP3 P10745 NID2 Homo sapiens Q8IV28
Validated Y2H
32296183
种属内
RBP3 P10745 KPRP Homo sapiens Q5T749
Validated Y2H
32296183
种属内
RBP3 P10745 SPAG8 Homo sapiens Q99932-2
Validated Y2H
32296183
种属内
RBP3 P10745 POU4F2 Homo sapiens Q12837
Validated Y2H
32296183
种属内
RBP3 P10745 HSD3B7 Homo sapiens Q9H2F3
Validated Y2H
32296183
种属内
RBP3 P10745 CDC23 Homo sapiens Q9UJX2
Validated Y2H
32296183
种属内
RBP3 P10745 HOXA1 Homo sapiens P49639
Validated Y2H
32296183
种属内
RBP3 P10745 PLSCR4 Homo sapiens Q9NRQ2
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 RBP3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71104 RBP3 Protein, Human (His) P10745 (T321-L630) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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