DHDH dihydrodiol dehydrogenase [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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].
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
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.
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.

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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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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

EC 1.1.1.179

EC 1.3.1.20

XP_005258805.1

EC 1.1.1.179

EC 1.3.1.20

XP_016882087.1

EC 1.1.1.179

EC 1.3.1.20

XP_047294573.1

EC 1.1.1.179

EC 1.3.1.20

XP_054176551.1

EC 1.1.1.179

EC 1.3.1.20

XP_054176552.1

EC 1.1.1.179

EC 1.3.1.20

XP_054176553.1

EC 1.1.1.179

EC 1.3.1.20

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_046910.1 RefSeqGene

Range

5061..16331

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

48932795..48944969

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026598.2 → XP_016882087.1 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X2
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]
XM_047438617.1 → XP_047294573.1 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

51927659..51939831

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320577.1 → XP_054176552.1 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X2
XM_054320578.1 → XP_054176553.1 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X3
XM_054320576.1 → XP_054176551.1 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase isoform X1