RDH10 - retinol dehydrogenase 10 Gene

Also Known as SDR16C4

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 157506

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_172037.5 NP_742034.1 retinol dehydrogenase 10
Molecular Function GO Annotation Evidence 参考文献 由来
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
12407145 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in retinal metabolic process IDA
IDA: Inferred from direct assay
19458327 GOA
involved in retinol metabolic process IDA
IDA: Inferred from direct assay
19458327 GOA
acts upstream of or within visual perception IDA
IDA: Inferred from direct assay
12407145 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytoplasm IDA
IDA: Inferred from direct assay
19458327 GOA
located in membrane IDA
IDA: Inferred from direct assay
19458327 GOA
NOT located in nucleus IDA
IDA: Inferred from direct assay
19458327 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RDH10 Protein Structure

adh_short

adh_short: short chain dehydrogenase (38 - 228)

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
Protein Preferred Names Protein Names

retinol dehydrogenase 10

  • retinol dehydrogenase 10 (all-trans)

RDH10 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
RDH10 Q8IZV5 DDA1 Homo sapiens Q9BW61 32296183
Intra
RDH10 Q8IZV5 RMDN2 Homo sapiens Q96LZ7 32296183
Intra
RDH10 Q8IZV5 ACSF2 Homo sapiens Q96CM8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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

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

生物種 Symbol 由来 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
Others RDH10 NCBI