1. Gene
  2. RDH10 - retinol dehydrogenase 10 Gene

RDH10 - retinol dehydrogenase 10 Gene

中文名称:视黄醇脱氢酶 10

种属: Homo sapiens

同用名: SDR16C4

基因 ID: 157506 | 基因类型: protein coding

关于 RDH10

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:73,294,602-73,325,281 (from NCBI)

This gene has 5 transcripts (splice variants), 229 orthologues and 25 paralogues. Ubiquitous expression in kidney (RPKM 18.4), gall bladder (RPKM 13.9) and 24 other tissues.

功能概要

该基因编码视黄醇脱氢酶,将全反式视黄醇转化为全反式视黄醛,优先选择 NADP 作为辅因子。对小鼠的研究表明,这种蛋白质对于胚胎视黄酸的合成至关重要,并且是四肢、颅面和器官发育所必需的。[RefSeq 提供,2011 年 12 月]

This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]

RDH10 基因产物(1)

mRNA Protein Name
NM_172037.5 NP_742034.1 retinol dehydrogenase 10
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
12407145 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in retinal metabolic process IDA
IDA: 通过直接分析推断
19458327 GOA
involved in retinol metabolic process IDA
IDA: 通过直接分析推断
19458327 GOA
acts upstream of or within visual perception IDA
IDA: 通过直接分析推断
12407145 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19458327 GOA
located in membrane IDA
IDA: 通过直接分析推断
19458327 GOA
NOT located in nucleus IDA
IDA: 通过直接分析推断
19458327 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

RDH10 蛋白结构

adh_short

adh_short: short chain dehydrogenase (38 - 228)

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
蛋白主名 其他名称

retinol dehydrogenase 10

retinol dehydrogenase 10 (all-trans)

RDH10 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
RDH10 Q8IZV5 DDA1 Homo sapiens Q9BW61
Validated Y2H
32296183
种属内
RDH10 Q8IZV5 RMDN2 Homo sapiens Q96LZ7
Validated Y2H
32296183
种属内
RDH10 Q8IZV5 ACSF2 Homo sapiens Q96CM8
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

Fundus Albipunctatus

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

RPA

Albipunctate Retinal Dystrophy

Lauber'S Disease

FALBI

Fa

Anterior Segment Dysgenesis 5

Anterior Segment Dysgenesis 5, Multiple Subtypes

ASGD5

Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes

Syndromic Microphthalmia

Microphthalmia, Syndromic

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

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

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

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
Macaca mulatta RDH10 VGNC VGNC:76780
Mus musculus RDH10 MGD MGI:1924238
Felis catus RDH10 VGNC VGNC:64555
Canis familiaris RDH10 VGNC VGNC:45452
Bos taurus RDH10 VGNC VGNC:33841
Rattus norvegicus RDH10 RGD RGD:727793