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RDH13 retinol dehydrogenase 13 (all-trans/9-cis) [ Homo sapiens (human) ]

Gene ID: 112724, updated on 26-May-2016
Official Symbol
RDH13provided by HGNC
Official Full Name
retinol dehydrogenase 13 (all-trans/9-cis)provided by HGNC
Primary source
HGNC:HGNC:19978
See related
Ensembl:ENSG00000160439 HPRD:17963; Vega:OTTHUMG00000180478
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]
Orthologs
Location:
19q13.42
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (55041319..55069774, 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 glycoprotein VI platelet Neighboring gene EPS8 like 1 Neighboring gene protein phosphatase 1 regulatory subunit 12C

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • RA biosynthesis pathway, organism-specific biosystem (from REACTOME)
    RA biosynthesis pathway, organism-specific biosystemThe major activated retinoid, all-trans-retinoic acid (atRA) is produced by the dehydrogenation of all-trans-retinol (atROL) by members of the short chain dehydrogenase/reductase (SDR) and aldehyde d...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Retinoic Acid, organism-specific biosystem (from REACTOME)
    Signaling by Retinoic Acid, organism-specific biosystemVitamin A (retinol) can be metabolised into active retinoid metabolites that function either as a chromophore in vision or in regulating gene expression transcriptionally and post-transcriptionally. ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ39479, DKFZp313H0740

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
Preferred Names
retinol dehydrogenase 13
Names
retinol dehydrogenase 13 (all-trans and 9-cis)
short chain dehydrogenase/reductase family 7C member 3
short chain dehydrogenase/reductase family 7C, member 3
NP_001139443.1
NP_612421.1

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.

mRNA and Protein(s)

  1. NM_001145971.1NP_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)
    AK122764, AY358473, BC009881, DB273341, DN996530
    Consensus CDS
    CCDS54320.1
    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8, B3KVA3
    Related
    ENSP00000391121, OTTHUMP00000264356, ENST00000415061, OTTHUMT00000451470
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  2. NM_138412.3NP_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)
    AK122764, BC009881, DB218166, DB273341
    Consensus CDS
    CCDS42627.1
    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    B3KVA3
    Related
    ENSP00000379547, OTTHUMP00000264358, ENST00000396247, OTTHUMT00000451472
    Conserved Domains (1) summary
    cl21454
    Location:1242
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. NR_027381.1 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)
    AK122764, AK291579, AY358473, BC009881, DB273341, DN996530
  2. NR_027382.1 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)
    AK122764, AY358473, BC009881, DB273341, DN996530

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    55041319..55069774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526408.1XP_011524710.1  

    See identical proteins and their annotated locations for XP_011524710.1

    Related
    ENSP00000291892, OTTHUMP00000264357, ENST00000291892, OTTHUMT00000451471
    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011526407.1XP_011524709.1  

    See identical proteins and their annotated locations for XP_011524709.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_005258473.1XP_005258530.1  

    See identical proteins and their annotated locations for XP_005258530.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_935728.1 RNA Sequence

  2. XR_935729.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    944717..973172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011547098.1XP_011545400.1  

    See identical proteins and their annotated locations for XP_011545400.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011547097.1XP_011545399.1  

    See identical proteins and their annotated locations for XP_011545399.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_006726146.1XP_006726209.1  

    See identical proteins and their annotated locations for XP_006726209.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_952186.1 RNA Sequence

  2. XR_952187.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p2 ALT_REF_LOCI_2

    Range
    686521..714976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011547509.1XP_011545811.1  

    See identical proteins and their annotated locations for XP_011545811.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011547508.1XP_011545810.1  

    See identical proteins and their annotated locations for XP_011545810.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_005277093.1XP_005277150.1  

    See identical proteins and their annotated locations for XP_005277150.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_952521.1 RNA Sequence

  2. XR_952522.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p2 ALT_REF_LOCI_3

    Range
    1021305..1049760 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011547758.1XP_011546060.1  

    See identical proteins and their annotated locations for XP_011546060.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011547757.1XP_011546059.1  

    See identical proteins and their annotated locations for XP_011546059.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_005277295.1XP_005277352.1  

    See identical proteins and their annotated locations for XP_005277352.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_952750.1 RNA Sequence

  2. XR_952751.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p2 ALT_REF_LOCI_4

    Range
    1048842..1077297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011547959.1XP_011546261.1  

    See identical proteins and their annotated locations for XP_011546261.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011547958.1XP_011546260.1  

    See identical proteins and their annotated locations for XP_011546260.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_006725861.1XP_006725924.1  

    See identical proteins and their annotated locations for XP_006725924.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_952902.1 RNA Sequence

  2. XR_952903.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p2 ALT_REF_LOCI_5

    Range
    1023391..1051846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011548138.1XP_011546440.1  

    See identical proteins and their annotated locations for XP_011546440.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011548137.1XP_011546439.1  

    See identical proteins and their annotated locations for XP_011546439.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_006725949.1XP_006726012.1  

    See identical proteins and their annotated locations for XP_006726012.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_952983.1 RNA Sequence

  2. XR_952984.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p2 ALT_REF_LOCI_6

    Range
    959684..988139 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011548331.1XP_011546633.1  

    See identical proteins and their annotated locations for XP_011546633.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011548330.1XP_011546632.1  

    See identical proteins and their annotated locations for XP_011546632.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_006726048.1XP_006726111.1  

    See identical proteins and their annotated locations for XP_006726111.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_953057.1 RNA Sequence

  2. XR_953058.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p2 ALT_REF_LOCI_7

    Range
    944101..972556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011548542.1XP_011546844.1  

    See identical proteins and their annotated locations for XP_011546844.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011548541.1XP_011546843.1  

    See identical proteins and their annotated locations for XP_011546843.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_005277238.1XP_005277295.1  

    See identical proteins and their annotated locations for XP_005277295.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_953125.1 RNA Sequence

  2. XR_953126.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p2 ALT_REF_LOCI_8

    Range
    753480..781935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011548594.1XP_011546896.1  

    See identical proteins and their annotated locations for XP_011546896.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011548593.1XP_011546895.1  

    See identical proteins and their annotated locations for XP_011546895.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_011548592.1XP_011546894.1  

    See identical proteins and their annotated locations for XP_011546894.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_953144.1 RNA Sequence

  2. XR_953145.1 RNA Sequence

Reference GRCh38.p2 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p2 ALT_REF_LOCI_9

    Range
    1023801..1052256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011548686.1XP_011546988.1  

    See identical proteins and their annotated locations for XP_011546988.1

    Conserved Domains (2) summary
    pfam00106
    Location:39220
    adh_short; short chain dehydrogenase
    cl21454
    Location:38254
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_011548685.1XP_011546987.1  

    See identical proteins and their annotated locations for XP_011546987.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional
  3. XM_006726184.1XP_006726247.1  

    See identical proteins and their annotated locations for XP_006726247.1

    UniProtKB/Swiss-Prot
    Q8NBN7
    UniProtKB/TrEMBL
    A0A024R4M8
    Conserved Domains (2) summary
    cd09807
    Location:38313
    retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs
    PRK06197
    Location:32322
    PRK06197; short chain dehydrogenase; Provisional

RNA

  1. XR_953166.1 RNA Sequence

  2. XR_953167.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    55549512..55574991 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)