RDH11 retinol dehydrogenase 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RDH11provided by HGNC
Official Full Name: retinol dehydrogenase 11provided by HGNC
Primary source: HGNC:HGNC:17964
See related: Ensembl:ENSG00000072042 MIM:607849; AllianceGenome:HGNC:17964
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MDT1; CGI82; PSDR1; RALR1; SCALD; ARSDR1; HCBP12; RDJCSS; SDR7C1
Summary: Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in cellular detoxification of aldehyde and retinoid metabolic process. Acts upstream of or within retinal metabolic process. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in prostate (RPKM 353.6), kidney (RPKM 48.4) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (67676800..67695764, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (61883919..61902884, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (68143517..68162481, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that membrane anchoring of retinol dehydrogenase 11 (RDH11) is likely driven by its N-terminal segment.
Title: Structure of the N-terminal segment of human retinol dehydrogenase 11 and its preferential lipid binding using model membranes.
Data indicate that ribosomal protein L11 (RPL11)-expressing cells proliferated more rapidly than the ribosomal protein L11 (RPL11)-expressing cells.
Title: Ribosomal protein L11- and retinol dehydrogenase 11-induced erythroid proliferation without erythropoietin in UT-7/Epo erythroleukemic cells.
deleterious mutations in RDH11, an important enzyme for vision-related and systemic retinoic acid metabolism, cause a new syndrome with RP.
Title: New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
The core protein of HCV can interact with translin protein. This can partly explain the molecular mechanism for hepatocellular carcinoma and lymphoma caused by HCV.
Title: Interaction between hepatitis C virus core protein and translin protein--a possible molecular mechanism for hepatocellular carcinoma and lymphoma caused by hepatitis C virus.
Expression pattern and high catalytic efficiency of RalR1 are consistent with the hypothesis that RalR1 contributes to the reduction of retinal in various human tissues.
Title: Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines.
Prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).
Title: Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).
RDH11 localizes to photoreceptor inner segments [review]
Title: Photoreceptor retinol dehydrogenases. An attempt to characterize the function of Rdh11.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MedGen: C4015242 OMIM: 616108 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of retinol dehydrogenase 11 (RDH11) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35424 (e-PCR)
- UniSTS:28683

RH103046 (e-PCR)
- UniSTS:97380

G62055 (e-PCR)
- UniSTS:139165

G36036 (e-PCR)
- UniSTS:49068

G35621 (e-PCR)
- UniSTS:8127

IB526 (e-PCR)
- UniSTS:48324

RH68773 (e-PCR)
- UniSTS:73171

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-cis-retinol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables aldehyde dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables all-trans-retinol dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables all-trans-retinol dehydrogenase (NAD+) activity	TAS Traceable Author Statement more info
enables all-trans-retinol dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NADP+) activity	TAS Traceable Author Statement more info
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular detoxification of aldehyde	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within retinal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoid metabolic process	TAS Traceable Author Statement more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in retinol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: retinol dehydrogenase 11

Names: HCV core-binding protein HCBP12; androgen-regulated short-chain dehydrogenase/reductase 1; prostate short-chain dehydrogenase reductase 1; retinal reductase 1; retinol dehydrogenase 11 (all-trans/9-cis/11-cis); short chain dehydrogenase/reductase family 7C, member 1

NP_001239579.1

EC 1.1.1.300

NP_057110.3

EC 1.1.1.300

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042282.1 RefSeqGene

Range

5030..23994

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001252650.2 → NP_001239579.1 retinol dehydrogenase 11 isoform 2

See identical proteins and their annotated locations for NP_001239579.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI382141, AK293355, AL049779, DC355364

Consensus CDS

CCDS58326.1

UniProtKB/Swiss-Prot

Q8TC12

Related

ENSP00000416395.2, ENST00000428130.6

Conserved Domains (1) summary

cl21454
Location:41 → 239

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_016026.4 → NP_057110.3 retinol dehydrogenase 11 isoform 1

See identical proteins and their annotated locations for NP_057110.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF167438, BC011727, DC355364

Consensus CDS

CCDS32104.1

UniProtKB/Swiss-Prot

A6NDK3, A8K062, B2RB26, B4DDW0, Q0QD40, Q6IAH5, Q8TC12, Q9NRW0, Q9Y391

UniProtKB/TrEMBL

A0A0S2Z583

Related

ENSP00000370750.4, ENST00000381346.9

Conserved Domains (2) summary

PRK06197
Location:41 → 314

PRK06197; short chain dehydrogenase; Provisional

cl21454
Location:41 → 309

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins