Format

Send to:

Choose Destination

RDH13 retinol dehydrogenase 13 [ Homo sapiens (human) ]

Gene ID: 112724, updated on 9-Feb-2020

Summary

Official Symbol
RDH13provided by HGNC
Official Full Name
retinol dehydrogenase 13provided by HGNC
Primary source
HGNC:HGNC:19978
See related
Ensembl:ENSG00000160439
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

Genomic context

See RDH13 in Genome Data Viewer
Location:
19q13.42
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55040375..55069531, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55555684..55580914, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NLR family pyrin domain containing 2 Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene uncharacterized LOC107985325 Neighboring gene glycoprotein VI platelet Neighboring gene EPS8 like 1 Neighboring gene protein phosphatase 1 regulatory subunit 12C

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

Homology

Clone Names

  • FLJ39479, DKFZp313H0740

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP-retinol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
NADP-retinol dehydrogenase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to high light intensity IEA
Inferred from Electronic Annotation
more info
 
retina layer formation IEA
Inferred from Electronic Annotation
more info
 
retinal metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
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_005258530.1
XP_011524710.1
XP_024307103.1
XP_024307104.1
XP_024307105.1
XP_024307106.1
XP_024307107.1

NCBI Reference Sequences (RefSeq)

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
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8, B3KVA3
    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/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    B3KVA3
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    55040375..55069531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526408.3XP_011524710.1  retinol dehydrogenase 13 isoform X3

    See identical proteins and their annotated locations for XP_011524710.1

    Conserved Domains (2) summary
    pfam00106
    Location:39239
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_024451335.1XP_024307103.1  retinol dehydrogenase 13 isoform X1

    Conserved Domains (1) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
  3. XM_005258473.1XP_005258530.1  retinol dehydrogenase 13 isoform X1

    See identical proteins and their annotated locations for XP_005258530.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (1) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
  4. XM_024451339.1XP_024307107.1  retinol dehydrogenase 13 isoform X5

    Conserved Domains (1) summary
    cl25409
    Location:1186
    SDR; Short-chain dehydrogenases/reductases (SDR)
  5. XM_024451336.1XP_024307104.1  retinol dehydrogenase 13 isoform X2

    Conserved Domains (1) summary
    cl25409
    Location:38275
    SDR; Short-chain dehydrogenases/reductases (SDR)
  6. XM_024451337.1XP_024307105.1  retinol dehydrogenase 13 isoform X4

    Related
    ENSP00000465538.1, ENST00000592573.1
    Conserved Domains (1) summary
    cl25409
    Location:38222
    SDR; Short-chain dehydrogenases/reductases (SDR)
  7. XM_024451338.1XP_024307106.1  retinol dehydrogenase 13 isoform X4

    Related
    ENSP00000291892.6, ENST00000291892.10
    Conserved Domains (1) summary
    cl25409
    Location:38222
    SDR; Short-chain dehydrogenases/reductases (SDR)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    947714..972918 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    689518..714722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    1024302..1049506 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    1051839..1077043 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    1026388..1051592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    962681..987885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    947098..972302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    756477..781681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    1026798..1052002 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center