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RDH13 retinol dehydrogenase 13 [ Homo sapiens (human) ]

Gene ID: 112724, updated on 11-Apr-2024

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
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Genomic context

Location:
19q13.42
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55039103..55069520, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58133057..58164455, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55555684..55580888, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene NLR family pyrin domain containing 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55523225-55523784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55526346-55526910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527390-55527890 Neighboring gene GP6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527891-55528391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55538985-55539689 Neighboring gene glycoprotein VI platelet Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55555893-55556394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55572859-55573826 Neighboring gene MPRA-validated peak3563 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55587691-55588416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55591665-55592622 Neighboring gene EPS8 signaling adaptor L1 Neighboring gene Sharpr-MPRA regulatory region 11471 Neighboring gene protein phosphatase 1 regulatory subunit 12C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55624596-55625222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55625223-55625849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55627401-55628236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11015

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ39479, DKFZp313H0740

Gene Ontology Provided by GOA

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
 

General protein information

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
NP_612421.1
XP_011524710.1
XP_054175658.1
XP_054175659.1
XP_054175660.1
XP_054175661.1
XP_054175662.1
XP_054185625.1
XP_054185626.1
XP_054185627.1
XP_054185628.1
XP_054185629.1
XP_054185630.1
XP_054186112.1
XP_054186113.1
XP_054186114.1
XP_054186115.1
XP_054186116.1
XP_054186117.1
XP_054186426.1
XP_054186427.1
XP_054186428.1
XP_054186429.1
XP_054186430.1
XP_054186680.1
XP_054186681.1
XP_054186682.1
XP_054186683.1
XP_054186910.1
XP_054186911.1
XP_054186912.1
XP_054186913.1
XP_054186914.1
XP_054187188.1
XP_054187189.1
XP_054187190.1
XP_054187191.1
XP_054187192.1
XP_054187452.1
XP_054187453.1
XP_054187454.1
XP_054187455.1
XP_054187456.1
XP_054189499.1
XP_054189500.1
XP_054189501.1
XP_054189502.1
XP_054189503.1
XP_054189588.1
XP_054189589.1
XP_054189590.1
XP_054189591.1
XP_054189592.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_052825.1 RefSeqGene

    Range
    13144..31976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145971.2NP_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:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
  2. NM_138412.4NP_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:1242
    SDR; Short-chain dehydrogenases/reductases (SDR)

RNA

  1. 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
  2. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    55039103..55069520 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526408.4XP_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:39239
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. XR_007066569.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    942292..973173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329655.1XP_054185630.1  retinol dehydrogenase 13 isoform X1

  2. XM_054329654.1XP_054185629.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054329652.1XP_054185627.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054329653.1XP_054185628.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054329651.1XP_054185626.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  6. XM_054329650.1XP_054185625.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    684096..714977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330142.1XP_054186117.1  retinol dehydrogenase 13 isoform X1

  2. XM_054330141.1XP_054186116.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054330139.1XP_054186114.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054330140.1XP_054186115.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054330138.1XP_054186113.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  6. XM_054330137.1XP_054186112.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    1018880..1049761 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330455.1XP_054186430.1  retinol dehydrogenase 13 isoform X1

  2. XM_054330454.1XP_054186429.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054330452.1XP_054186427.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054330453.1XP_054186428.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054330451.1XP_054186426.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    1046417..1077298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330708.1XP_054186683.1  retinol dehydrogenase 13 isoform X1

  2. XM_054330707.1XP_054186682.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054330706.1XP_054186681.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054330705.1XP_054186680.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    1020966..1051847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330939.1XP_054186914.1  retinol dehydrogenase 13 isoform X1

  2. XM_054330938.1XP_054186913.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054330937.1XP_054186912.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054330936.1XP_054186911.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054330935.1XP_054186910.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    957259..988140 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331217.1XP_054187192.1  retinol dehydrogenase 13 isoform X1

  2. XM_054331216.1XP_054187191.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054331214.1XP_054187189.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054331215.1XP_054187190.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054331213.1XP_054187188.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    941676..972557 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331481.1XP_054187456.1  retinol dehydrogenase 13 isoform X1

  2. XM_054331480.1XP_054187455.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054331479.1XP_054187454.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054331478.1XP_054187453.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054331477.1XP_054187452.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

    Range
    751055..781936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333528.1XP_054189503.1  retinol dehydrogenase 13 isoform X1

  2. XM_054333527.1XP_054189502.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054333526.1XP_054189501.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054333525.1XP_054189500.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054333524.1XP_054189499.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

    Range
    1022857..1052257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333617.1XP_054189592.1  retinol dehydrogenase 13 isoform X1

  2. XM_054333616.1XP_054189591.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054333615.1XP_054189590.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054333614.1XP_054189589.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054333613.1XP_054189588.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    58133057..58164455 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319687.1XP_054175662.1  retinol dehydrogenase 13 isoform X1

  2. XM_054319685.1XP_054175660.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  3. XM_054319686.1XP_054175661.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  4. XM_054319683.1XP_054175658.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88
  5. XM_054319684.1XP_054175659.1  retinol dehydrogenase 13 isoform X2

    UniProtKB/Swiss-Prot
    Q6UX79, Q8NBN7, Q96G88