RDH5 - retinol dehydrogenase 5 Gene

中文名称：视黄醇脱氢酶 5

种属: Homo sapiens

同用名: RDH1; 9cRDH; SDR9C5; HSD17B9

基因 ID: 5959 | 基因类型: protein coding

关于 RDH5

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:55,720,393-55,724,705 (from NCBI)

This gene has 11 transcripts (splice variants), 197 orthologues, 25 paralogues and is associated with 4 phenotypes. Biased expression in fat (RPKM 73.0), liver (RPKM 14.5) and 5 other tissues.

功能概要

该基因编码一种属于短链脱氢酶/还原酶 (SDR) 家族的酶。这种视黄醇脱氢酶的作用是催化 11-顺式视黄醛生物合成的最后一步，11-顺式视黄醛是视觉色素的通用发色团。该基因的突变会导致常染色体隐性遗传眼底白斑，这是一种罕见的夜盲症，其特征是视锥细胞和视杆细胞的感光色素再生延迟。可变剪接导致多个转录本变体。该基因与邻近的上游 BLOC1S1 (溶酶体细胞器复合物 1，亚基 1 的生物发生) 基因之间也存在通读转录。[RefSeq 提供，2010 年 12 月]

This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual Pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]

RDH5 基因产物(2)

mRNA	Protein	Name
NM_001199771.3	NP_001186700.1	retinol dehydrogenase 5 precursor
NM_002905.5	NP_002896.2	retinol dehydrogenase 5 precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables all-trans-retinol dehydrogenase (NAD+) activity	IDA IDA: 通过直接分析推断	11675386	GOA
enables androstan-3-alpha,17-beta-diol dehydrogenase activity	IDA IDA: 通过直接分析推断	9931293	GOA
enables androsterone dehydrogenase activity	IDA IDA: 通过直接分析推断	9931293	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	11675386	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in retinoid metabolic process	IDA IDA: 通过直接分析推断	9931293	GOA
involved in steroid metabolic process	IDA IDA: 通过直接分析推断	9931293	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum lumen	IDA IDA: 通过直接分析推断	11675386	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	11675386	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

RDH5 蛋白结构

adh_short

0
100
200
300
318 a.a.

蛋白主名

其他名称

retinol dehydrogenase 5

11-cis RDH

关联疾病

疾病名称

别名

Fundus Albipunctatus

Retinitis Punctata Albescens	Pigmentary Retinal Dystrophy
RPA	Albipunctate Retinal Dystrophy
Lauber'S Disease	FALBI
Fa

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Night Blindness

Nyctalopia

Oguchi Disease

Stationary Night Blindness, Oguchi Type	Congenital Stationary Night Blindness, Oguchi Type
Oguchi Syndrome	Oguchis Disease

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Bothnia Retinal Dystrophy

Vasterbotten Dystrophy	BRD
Dystrophy, Retinal, Bothnia

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

Newfoundland Rod-Cone Dystrophy

Newfoundland Cone-Rod Dystrophy	NFRCD
Rod-Cone Dystrophy Newfoundland

Progressive Cone Dystrophy

Cone Dystrophy

Cone Dystrophy Progressive

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

Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Cone-Rod Dystrophy 8

CORD8

Cone-Rod Dystrophy 9

CORD9	Dystrophy, Cone-Rod, Type 9
Retinitis Pigmentosa 9

Retinitis Pigmentosa 14

RP14	Retinitis Pigmentosa Juvenile Tulp1-Related
Retinitis Pigmentosa-14	Retinitis Pigmentosa, Type 14

Mitochondrial Dna Depletion Syndrome 11

MTDPS11	Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency	Peo-Myopathy-Emaciation Syndrome
Mtdna Maintenance Syndrome Due To Mgme1 Deficiency	Mitochondrial Dna Depletion Syndrome, Type 11

Microphthalmia, Syndromic 9

Matthew-Wood Syndrome	Spear Syndrome
Anophthalmia/Microphthalmia And Pulmonary Hypoplasia	Microphthalmia, Isolated, With Coloboma 8
MCOPS9	Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect	Pdac
Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect	Pmd
Syndromic Microphthalmia 9	Anophthalmia-Pulmonary Hypoplasia Syndrome
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations	Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect
Microphthalmia Syndromic 9	Matthew Wood Syndrome
Pdac Syndrome	Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome
Microphthalmia, Isolated, With Coloboma, 8	MCOPCB8
Isolated Colobomatous Microphthalmia 8	Microphthalmia, Syndromic, 9
Anophthalmia With Pulmonary Hypoplasia	Microphthalmia Syndromic, Type 9
Anophthalmia And Pulmonary Hypoplasia

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Retinal Degeneration

Degeneration Of Retina

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

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

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

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

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Refractive Error

Refractive Errors

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

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11803	RDH5 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-W587807	11-cis-Retinol		/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	RDH5	VGNC	VGNC:69277
Rattus norvegicus	RDH5	RGD	RGD:1308849
Bos taurus	RDH5	VGNC	VGNC:33843
Macaca mulatta	RDH5	VGNC	VGNC:82219
Mus musculus	RDH5	MGD	MGI:1201412
Canis familiaris	RDH5	VGNC	VGNC:45454

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RDH5 - retinol dehydrogenase 5 Gene

关于 RDH5

功能概要

RDH5 基因产物(2)

RDH5 蛋白结构

关联疾病

直系同源

热门区域

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RDH5 - retinol dehydrogenase 5 Gene

关于 RDH5

功能概要

RDH5 基因产物(2)

RDH5 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z