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DHDH dihydrodiol dehydrogenase [ Homo sapiens (human) ]

Gene ID: 27294, updated on 3-Apr-2024

Summary

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Official Symbol
DHDHprovided by HGNC
Official Full Name
dihydrodiol dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:17887
See related
Ensembl:ENSG00000104808 MIM:606377; AllianceGenome:HGNC:17887
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
2DD; HUM2DD
Summary
This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 7.4), small intestine (RPKM 4.3) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48932795..48944969)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51927659..51939831)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49436956..49448226)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49390815-49391709 Neighboring gene TUB like protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49398133-49398948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10906 Neighboring gene CRISPRi-FlowFISH-validated BAX and NUCB1 regulatory element Neighboring gene nucleobindin 1 Neighboring gene NUCB1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49422347-49422846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49425993-49426492 Neighboring gene Sharpr-MPRA regulatory region 4424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49436529-49437030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49438311-49438870 Neighboring gene Sharpr-MPRA regulatory region 12688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49457811-49458379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49458380-49458947 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14919 Neighboring gene BCL2 associated X, apoptosis regulator Neighboring gene ferritin light chain

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Overexpression of dihydrodiol dehydrogenase as a prognostic marker in resected gastric cancer patients. Chang HC, et al. Dig Dis Sci, 2009 Feb. PMID 18600452
  2. Roles of His-79 and Tyr-180 of D-xylose/dihydrodiol dehydrogenase in catalytic function. Asada Y, et al. Biochem Biophys Res Commun, 2000 Nov 19. PMID 11097839
  3. [A coexistence of the Dupuytren's disease and malignant neoplasms: a review]. Zyluk A, et al. Ann Acad Med Stetin, 2013. PMID 24734329
  4. Common variants of the ALDH2 and DHDH genes and the risk of Dupuytren's disease. Zyluk A, et al. J Hand Surg Eur Vol, 2013 May. PMID 23303836
  5. Identity of dimeric dihydrodiol dehydrogenase as NADP(+)-dependent D-xylose dehydrogenase in pig liver. Aoki S, et al. Chem Biol Interact, 2001 Jan 30. PMID 11306093

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Some genetical studies show also altered expression of the dehydrogenases ALDH2 and DHDH genes in patients with Dupuytren's disease and with digestive tract malignancies related to alcohol abuse.(review)
    Title: [A coexistence of the Dupuytren's disease and malignant neoplasms: a review].
  2. Possible association of both variants of the DHDH gene with familial Dupuytren's disease, as over-representation of the rs2270941 and rs11666105 alterations was identified among 100 patients with a familial history.
    Title: Common variants of the ALDH2 and DHDH genes and the risk of Dupuytren's disease.
  3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
  4. Survival was significantly better in gastric cancer patients with low DDH expression.
    Title: Overexpression of dihydrodiol dehydrogenase as a prognostic marker in resected gastric cancer patients.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
  6. Comparison of other mammalian homologs with the human enzyme shows that dimeric DDs constitute a novel protein family.
    Title: Identity of dimeric dihydrodiol dehydrogenase as NADP(+)-dependent D-xylose dehydrogenase in pig liver.
  7. Site-directed mutagenesis of conserved residues shows that Tyr-180 plays a critical role in the catalytic function of this enzyme, while His-79 is required in the coenzyme binding and chemical steps of the reaction.
    Title: Roles of His-79 and Tyr-180 of D-xylose/dihydrodiol dehydrogenase in catalytic function.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D-xylose 1-dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in D-xylose catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
Names
3-deoxyglucosone reductase
D-xylose 1-dehydrogenase
D-xylose-NADP dehydrogenase
dihydrodiol dehydrogenase (dimeric)
NP_055290.1
XP_005258805.1
XP_016882087.1
XP_047294573.1
XP_054176551.1
XP_054176552.1
XP_054176553.1

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

  1. NG_046910.1 RefSeqGene

    Range
    5061..16331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014475.4 → NP_055290.1  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase

    See identical proteins and their annotated locations for NP_055290.1

    Status: REVIEWED

    Source sequence(s)
    BC032730, BF510979
    Consensus CDS
    CCDS12741.1
    UniProtKB/Swiss-Prot
    Q9UQ10
    Related
    ENSP00000221403.2, ENST00000221403.7
    Conserved Domains (1) summary
    COG0673
    Location:1 → 326
    MviM; Predicted dehydrogenase [General function prediction only]

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
    48932795..48944969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026598.2 → XP_016882087.1  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X2

  2. XM_005258748.5 → XP_005258805.1  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X3

    Conserved Domains (1) summary
    COG0673
    Location:13 → 214
    MviM; Predicted dehydrogenase [General function prediction only]

  3. XM_047438617.1 → XP_047294573.1  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51927659..51939831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320577.1 → XP_054176552.1  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X2

  2. XM_054320578.1 → XP_054176553.1  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X3

  3. XM_054320576.1 → XP_054176551.1  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UQ10.1 GenPept UniProtKB/Swiss-Prot:Q9UQ10

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