RDH13 retinol dehydrogenase 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RDH13provided by HGNC
Official Full Name: retinol dehydrogenase 13provided by HGNC
Primary source: HGNC:HGNC:19978
See related: Ensembl:ENSG00000160439 AllianceGenome:HGNC:19978
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: SDR7C3
Summary: This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Expression: Ubiquitous expression in skin (RPKM 5.7), stomach (RPKM 4.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55039103..55069520, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58133057..58164455, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55555684..55580888, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
RDH13 exhibits a wide tissue distribution and, by contrast with other members of the RDH11-like group of short-chain dehydrogenases/reductases, is a mitochondrial rather than a microsomal protein.
Title: Human retinol dehydrogenase 13 (RDH13) is a mitochondrial short-chain dehydrogenase/reductase with a retinaldehyde reductase activity.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WIAF-2101 (e-PCR)
- UniSTS:51489

D8S2279 (e-PCR)
- UniSTS:473907

L17709 (e-PCR)
- UniSTS:42599

G32531 (e-PCR)
- UniSTS:117116

D11S2612 (e-PCR)
- UniSTS:70572

G59585 (e-PCR)
- UniSTS:136889

D19S1109 (e-PCR)
- UniSTS:28107

GDB:631802 (e-PCR)
- UniSTS:158429

A009G28 (e-PCR)
- UniSTS:76254

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables all-trans-retinol dehydrogenase (NADP+) activity	IBA Inferred from Biological aspect of Ancestor 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

Process	Evidence Code	Pubs
involved_in eye photoreceptor cell development	IEA Inferred from Electronic Annotation more info
involved_in response to high light intensity	IEA Inferred from Electronic Annotation more info
involved_in retina layer formation	IEA Inferred from Electronic Annotation more info
involved_in retinal metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: retinol dehydrogenase 13

Names: retinol dehydrogenase 13 (all-trans and 9-cis); retinol dehydrogenase 13 (all-trans/9-cis); short chain dehydrogenase/reductase family 7C member 3

NP_001139443.1

EC 1.1.1.300

NP_612421.1

EC 1.1.1.300

XP_011524710.1

EC 1.1.1.300

XP_054175658.1

EC 1.1.1.300

XP_054175659.1

EC 1.1.1.300

XP_054175660.1

EC 1.1.1.300

XP_054175661.1

EC 1.1.1.300

XP_054175662.1

EC 1.1.1.300

XP_054185625.1

EC 1.1.1.300

XP_054185626.1

EC 1.1.1.300

XP_054185627.1

EC 1.1.1.300

XP_054185628.1

EC 1.1.1.300

XP_054185629.1

EC 1.1.1.300

XP_054185630.1

EC 1.1.1.300

XP_054186112.1

EC 1.1.1.300

XP_054186113.1

EC 1.1.1.300

XP_054186114.1

EC 1.1.1.300

XP_054186115.1

EC 1.1.1.300

XP_054186116.1

EC 1.1.1.300

XP_054186117.1

EC 1.1.1.300

XP_054186426.1

EC 1.1.1.300

XP_054186427.1

EC 1.1.1.300

XP_054186428.1

EC 1.1.1.300

XP_054186429.1

EC 1.1.1.300

XP_054186430.1

EC 1.1.1.300

XP_054186680.1

EC 1.1.1.300

XP_054186681.1

EC 1.1.1.300

XP_054186682.1

EC 1.1.1.300

XP_054186683.1

EC 1.1.1.300

XP_054186910.1

EC 1.1.1.300

XP_054186911.1

EC 1.1.1.300

XP_054186912.1

EC 1.1.1.300

XP_054186913.1

EC 1.1.1.300

XP_054186914.1

EC 1.1.1.300

XP_054187188.1

EC 1.1.1.300

XP_054187189.1

EC 1.1.1.300

XP_054187190.1

EC 1.1.1.300

XP_054187191.1

EC 1.1.1.300

XP_054187192.1

EC 1.1.1.300

XP_054187452.1

EC 1.1.1.300

XP_054187453.1

EC 1.1.1.300

XP_054187454.1

EC 1.1.1.300

XP_054187455.1

EC 1.1.1.300

XP_054187456.1

EC 1.1.1.300

XP_054189499.1

EC 1.1.1.300

XP_054189500.1

EC 1.1.1.300

XP_054189501.1

EC 1.1.1.300

XP_054189502.1

EC 1.1.1.300

XP_054189503.1

EC 1.1.1.300

XP_054189588.1

EC 1.1.1.300

XP_054189589.1

EC 1.1.1.300

XP_054189590.1

EC 1.1.1.300

XP_054189591.1

EC 1.1.1.300

XP_054189592.1

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_052825.1 RefSeqGene

Range

13144..31976

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145971.2 → NP_001139443.1 retinol dehydrogenase 13 isoform 1 precursor

See identical proteins and their annotated locations for NP_001139443.1

Status: REVIEWED

Description

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

Source sequence(s)

AC011476, AK122764, AY358473, BC009881, DB273341

Consensus CDS

CCDS54320.1

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Related

ENSP00000391121.2, ENST00000415061.8

Conserved Domains (1) summary

cd09807
Location:38 → 313

retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
NM_138412.4 → NP_612421.1 retinol dehydrogenase 13 isoform 2

See identical proteins and their annotated locations for NP_612421.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC011476, AK122764, BC009881, DB273341

Consensus CDS

CCDS42627.1

UniProtKB/TrEMBL

B2RDH1

Related

ENSP00000379547.2, ENST00000396247.7

Conserved Domains (1) summary

cl25409
Location:1 → 242

SDR; Short-chain dehydrogenases/reductases (SDR)

RNA

NR_027381.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011476, AK122764, AK291579, AY358473, BC009881, DB273341
NR_027382.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate internal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011476, AK122764, AY358473, BC009881, DB273341

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

55039103..55069520 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526408.4 → XP_011524710.1 retinol dehydrogenase 13 isoform X1

See identical proteins and their annotated locations for XP_011524710.1

UniProtKB/TrEMBL

G8JLA1

Related

ENSP00000465538.1, ENST00000592573.1

Conserved Domains (2) summary

pfam00106
Location:39 → 239

adh_short; short chain dehydrogenase

cl21454
Location:38 → 254

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

RNA

XR_007066569.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

942292..973173 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329655.1 → XP_054185630.1 retinol dehydrogenase 13 isoform X1
XM_054329654.1 → XP_054185629.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054329652.1 → XP_054185627.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054329653.1 → XP_054185628.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054329651.1 → XP_054185626.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054329650.1 → XP_054185625.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

684096..714977 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330142.1 → XP_054186117.1 retinol dehydrogenase 13 isoform X1
XM_054330141.1 → XP_054186116.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330139.1 → XP_054186114.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330140.1 → XP_054186115.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330138.1 → XP_054186113.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330137.1 → XP_054186112.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

Range

1018880..1049761 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330455.1 → XP_054186430.1 retinol dehydrogenase 13 isoform X1
XM_054330454.1 → XP_054186429.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330452.1 → XP_054186427.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330453.1 → XP_054186428.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330451.1 → XP_054186426.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

Range

1046417..1077298 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330708.1 → XP_054186683.1 retinol dehydrogenase 13 isoform X1
XM_054330707.1 → XP_054186682.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330706.1 → XP_054186681.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330705.1 → XP_054186680.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

Range

1020966..1051847 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330939.1 → XP_054186914.1 retinol dehydrogenase 13 isoform X1
XM_054330938.1 → XP_054186913.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330937.1 → XP_054186912.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330936.1 → XP_054186911.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054330935.1 → XP_054186910.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

Range

957259..988140 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331217.1 → XP_054187192.1 retinol dehydrogenase 13 isoform X1
XM_054331216.1 → XP_054187191.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054331214.1 → XP_054187189.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054331215.1 → XP_054187190.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054331213.1 → XP_054187188.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

Range

941676..972557 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331481.1 → XP_054187456.1 retinol dehydrogenase 13 isoform X1
XM_054331480.1 → XP_054187455.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054331479.1 → XP_054187454.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054331478.1 → XP_054187453.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054331477.1 → XP_054187452.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

Range

751055..781936 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333528.1 → XP_054189503.1 retinol dehydrogenase 13 isoform X1
XM_054333527.1 → XP_054189502.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054333526.1 → XP_054189501.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054333525.1 → XP_054189500.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054333524.1 → XP_054189499.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

Range

1022857..1052257 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333617.1 → XP_054189592.1 retinol dehydrogenase 13 isoform X1
XM_054333616.1 → XP_054189591.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054333615.1 → XP_054189590.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054333614.1 → XP_054189589.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054333613.1 → XP_054189588.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

58133057..58164455 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319687.1 → XP_054175662.1 retinol dehydrogenase 13 isoform X1
XM_054319685.1 → XP_054175660.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054319686.1 → XP_054175661.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054319683.1 → XP_054175658.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88
XM_054319684.1 → XP_054175659.1 retinol dehydrogenase 13 isoform X2

UniProtKB/Swiss-Prot

Q6UX79, Q8NBN7, Q96G88