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DOHH deoxyhypusine hydroxylase [ Homo sapiens (human) ]

Gene ID: 83475, updated on 5-Mar-2024

Summary

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Official Symbol
DOHHprovided by HGNC
Official Full Name
deoxyhypusine hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:28662
See related
Ensembl:ENSG00000129932 MIM:611262; AllianceGenome:HGNC:28662
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
HLRC1; hDOHH; NEDMVIC
Summary
This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in kidney (RPKM 3.6), brain (RPKM 3.1) and 25 other tissues See more
Orthologs
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Genomic context

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See DOHH in Genome Data Viewer
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3490824..3500674, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3468995..3478845, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3490822..3500672, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 24 Neighboring gene uncharacterized LOC105372246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3483217-3483755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9846 Neighboring gene small integral membrane protein 44 Neighboring gene MPRA-validated peak3248 silencer Neighboring gene uncharacterized LOC105372245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13738 Neighboring gene fizzy and cell division cycle 20 related 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3516112-3516938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3516939-3517763 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3518044-3518846 Neighboring gene uncharacterized LOC124904617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3520450-3521250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3539157-3540009 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3540539 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3542983 Neighboring gene tektin bundle interacting protein 1 Neighboring gene major facilitator superfamily domain containing 12

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. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. Ziegler A, et al. Am J Hum Genet, 2022 Aug 4. PMID 35858628, Free PMC Article
  2. Deoxyhypusine hydroxylase as a novel pharmacological target for ischemic stroke via inducing a unique post-translational hypusination modification. Guo Q, et al. Pharmacol Res, 2022 Feb. PMID 35007708
  3. Deoxyhypusine hydroxylase: A novel therapeutic target differentially expressed in short-term vs long-term survivors of glioblastoma. Ofek P, et al. Int J Cancer, 2023 Aug 1. PMID 37141410
  4. Crystal Structure of the Peroxo-diiron(III) Intermediate of Deoxyhypusine Hydroxylase, an Oxygenase Involved in Hypusination. Han Z, et al. Structure, 2015 May 5. PMID 25865244
  5. Regulation of expression of deoxyhypusine hydroxylase (DOHH), the enzyme that catalyzes the activation of eIF5A, by miR-331-3p and miR-642-5p in prostate cancer cells. Epis MR, et al. J Biol Chem, 2012 Oct 12. PMID 22908221, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deoxyhypusine hydroxylase: A novel therapeutic target differentially expressed in short-term vs long-term survivors of glioblastoma.
    Title: Deoxyhypusine hydroxylase: A novel therapeutic target differentially expressed in short-term vs long-term survivors of glioblastoma.
  2. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
    Title: Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
  3. Deoxyhypusine hydroxylase as a novel pharmacological target for ischemic stroke via inducing a unique post-translational hypusination modification.
    Title: Deoxyhypusine hydroxylase as a novel pharmacological target for ischemic stroke via inducing a unique post-translational hypusination modification.
  4. Data describes 3-D structure of hDOHH in two states, hDOHHperoxo (POX) and a complex of the diiron core with glycerol (GLC) providing an explanation for the extreme longevity of POX and illustrate its substrate specificity for deoxyhypusine-eIF-5A.
    Title: Crystal Structure of the Peroxo-diiron(III) Intermediate of Deoxyhypusine Hydroxylase, an Oxygenase Involved in Hypusination.
  5. Here, we show that PCBP1 and PCBP2 also deliver iron to deoxyhypusine hydroxylase (DOHH), the dinuclear iron enzyme required for hypusine modification of the translation factor eukaryotic initiation factor 5A.
    Title: Iron chaperones PCBP1 and PCBP2 mediate the metallation of the dinuclear iron enzyme deoxyhypusine hydroxylase.
  6. eIF-5A as well as the hypusine-forming enzymes deoxyhypusine synthase (DHS) and deoxyhypusine hydroxylase (DOHH) are highly overexpressed in glioblastoma patient sample
    Title: Expression of eukaryotic initiation factor 5A and hypusine forming enzymes in glioblastoma patient samples: implications for new targeted therapies.
  7. a novel role for miR-331-3p and miR-642-5p in the control of prostate cancer cell growth via the regulation of DOHH expression and eIF5A activity.
    Title: Regulation of expression of deoxyhypusine hydroxylase (DOHH), the enzyme that catalyzes the activation of eIF5A, by miR-331-3p and miR-642-5p in prostate cancer cells.
  8. Resonance Raman experiments show that its blue chromophore arises from a (mu-1,2-peroxo)diiron(III) center that forms in the reaction of the reduced enzyme with O2, so the peroxo form of hDOHH is unusually stable.
    Title: Human deoxyhypusine hydroxylase, an enzyme involved in regulating cell growth, activates O2 with a nonheme diiron center.
  9. analysis of the deoxyhypusine hydroxylase-eukaryotic translation initiation factor (eIF5A) interaction
    Title: Specificity of the deoxyhypusine hydroxylase-eukaryotic translation initiation factor (eIF5A) interaction: identification of amino acid residues of the enzyme required for binding of its substrate, deoxyhypusine-containing eIF5A.
  10. The structure and function of DOHH are reported.
    Title: Deoxyhypusine hydroxylase is a Fe(II)-dependent, HEAT-repeat enzyme. Identification of amino acid residues critical for Fe(II) binding and catalysis [corrected].
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

Associated conditions

Description Tests
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
MedGen: C5774225 OMIM: 620066 GeneReviews: Not available
not available

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with deoxyhypusine hydroxylase/monooxygenase (DOHH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC4293

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables deoxyhypusine monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables deoxyhypusine monooxygenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables iron ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables iron ion binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in peptidyl-lysine modification to peptidyl-hypusine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-lysine modification to peptidyl-hypusine IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
deoxyhypusine hydroxylase
Names
HEAT-like (PBS lyase) repeat containing 1
HEAT-like repeat-containing protein 1
deoxyhypusine dioxygenase
deoxyhypusine hydroxylase/monooxygenase
deoxyhypusine monooxygenase
NP_001138637.1
NP_112594.1
XP_011526643.1
XP_054178268.1

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.

mRNA and Protein(s)

  1. NM_001145165.2 → NP_001138637.1  deoxyhypusine hydroxylase

    See identical proteins and their annotated locations for NP_001138637.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC002817, BG491509, BU624567
    Consensus CDS
    CCDS12108.1
    UniProtKB/Swiss-Prot
    O75265, Q9BU89
    Related
    ENSP00000398882.1, ENST00000427575.6
    Conserved Domains (2) summary
    COG1413
    Location:45 → 298
    HEAT; HEAT repeat [General function prediction only]
    sd00044
    Location:69 → 100
    HEAT; HEAT repeat [structural motif]

  2. NM_031304.5 → NP_112594.1  deoxyhypusine hydroxylase

    See identical proteins and their annotated locations for NP_112594.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC005787, BC002817, BU624567
    Consensus CDS
    CCDS12108.1
    UniProtKB/Swiss-Prot
    O75265, Q9BU89
    Related
    ENSP00000500806.1, ENST00000672935.1
    Conserved Domains (2) summary
    COG1413
    Location:45 → 298
    HEAT; HEAT repeat [General function prediction only]
    sd00044
    Location:69 → 100
    HEAT; HEAT repeat [structural motif]

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
    3490824..3500674 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528341.3 → XP_011526643.1  deoxyhypusine hydroxylase isoform X1

    Conserved Domains (3) summary
    smart00567
    Location:85 → 114
    EZ_HEAT; E-Z type HEAT repeats
    pfam13646
    Location:41 → 114
    HEAT_2; HEAT repeats
    sd00044
    Location:69 → 100
    HEAT; HEAT repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    3468995..3478845 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322293.1 → XP_054178268.1  deoxyhypusine hydroxylase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BU89.1 GenPept UniProtKB/Swiss-Prot:Q9BU89

Gene LinkOut

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