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] See more...

Aliases for DOHH Gene

Aliases for DOHH Gene

  • Deoxyhypusine Hydroxylase 2 3 4 5
  • HEAT-Like (PBS Lyase) Repeat Containing 1 2 3
  • Deoxyhypusine Hydroxylase/Monooxygenase 2 3
  • HEAT-Like Repeat-Containing Protein 1 3 4
  • Deoxyhypusine Monooxygenase 3 4
  • Deoxyhypusine Dioxygenase 3 4
  • EC 1.14.99.29 4 51
  • HLRC1 3 4
  • HDOHH 3 4
  • MGC4293 2
  • DOHH 5

External Ids for DOHH Gene

Previous HGNC Symbols for DOHH Gene

  • HLRC1

Previous GeneCards Identifiers for DOHH Gene

  • GC19M003443
  • GC19M003256

Summaries for DOHH Gene

Entrez Gene Summary for DOHH Gene

  • 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]

GeneCards Summary for DOHH Gene

DOHH (Deoxyhypusine Hydroxylase) is a Protein Coding gene. Diseases associated with DOHH include Familial Expansile Osteolysis. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include binding and deoxyhypusine monooxygenase activity.

UniProtKB/Swiss-Prot Summary for DOHH Gene

  • Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine (PubMed:16533814, PubMed:16371467, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DOHH Gene

Genomics for DOHH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DOHH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOHH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DOHH

Top Transcription factor binding sites by QIAGEN in the DOHH gene promoter:
  • AhR
  • AP-2gamma
  • Arnt
  • ATF6
  • NRF-2

Genomic Locations for DOHH Gene

Genomic Locations for DOHH Gene
chr19:3,490,821-3,500,674
(GRCh38/hg38)
Size:
9,854 bases
Orientation:
Minus strand
chr19:3,490,819-3,500,938
(GRCh37/hg19)
Size:
10,120 bases
Orientation:
Minus strand

Genomic View for DOHH Gene

Genes around DOHH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOHH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOHH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOHH Gene

Proteins for DOHH Gene

  • Protein details for DOHH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BU89-DOHH_HUMAN
    Recommended name:
    Deoxyhypusine hydroxylase
    Protein Accession:
    Q9BU89
    Secondary Accessions:
    • O75265

    Protein attributes for DOHH Gene

    Size:
    302 amino acids
    Molecular mass:
    32904 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DOHH Gene

neXtProt entry for DOHH Gene

Selected DME Specific Peptides for DOHH Gene

Q9BU89:
  • SALLKHE
  • ESCEVALDM
  • RYRAMFALR
  • EVAETCQLAV
  • SVDPAPP
  • QPLQARFRALFTLRGLGGP
  • EAALALAEGL
  • PLFERYRAMF

Post-translational modifications for DOHH Gene

  • Ubiquitination at Lys18
  • Modification sites at PhosphoSitePlus

Other Protein References for DOHH Gene

Domains & Families for DOHH Gene

Gene Families for DOHH Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DOHH Gene

InterPro:
Blocks:
  • PBS lyase HEAT-like repeat
ProtoNet:

Suggested Antigen Peptide Sequences for DOHH Gene

GenScript: Design optimal peptide antigens:
  • HEAT-like repeat-containing protein 1 (DOHH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BU89

UniProtKB/Swiss-Prot:

DOHH_HUMAN :
  • Belongs to the deoxyhypusine hydroxylase family.
Family:
  • Belongs to the deoxyhypusine hydroxylase family.
genes like me logo Genes that share domains with DOHH: view

Function for DOHH Gene

Molecular function for DOHH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine (PubMed:16533814, PubMed:16371467, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[eIF5A protein]-deoxyhypusine + AH2 + O2 = [eIF5A protein]-hypusine + A + H2O; Xref=Rhea:RHEA:14101, Rhea:RHEA-COMP:10144, Rhea:RHEA-COMP:12592, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:17499, ChEBI:CHEBI:82657, ChEBI:CHEBI:91175; EC=1.14.99.29; Evidence={ECO:0000255|HAMAP-Rule:MF_03101, ECO:0000269|PubMed:16371467, ECO:0000269|PubMed:16533814, ECO:0000269|PubMed:19706422};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8-8.5 at 37 degrees Celsius. {ECO:0000269|PubMed:16533814};

Enzyme Numbers (IUBMB) for DOHH Gene

Gene Ontology (GO) - Molecular Function for DOHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IMP 16533814
GO:0005515 protein binding IPI 17213197
GO:0016491 oxidoreductase activity IEA,IBA 21873635
GO:0019135 deoxyhypusine monooxygenase activity IMP 16371467
genes like me logo Genes that share ontologies with DOHH: view
genes like me logo Genes that share phenotypes with DOHH: view

Animal Models for DOHH Gene

MGI Knock Outs for DOHH:
  • Dohh Dohh<tm1.2Sbal>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOHH

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DOHH Gene

Localization for DOHH Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOHH gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DOHH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DOHH Gene

Pathways & Interactions for DOHH Gene

genes like me logo Genes that share pathways with DOHH: view

UniProtKB/Swiss-Prot Q9BU89-DOHH_HUMAN

  • Pathway: Protein modification; eIF5A hypusination.

Gene Ontology (GO) - Biological Process for DOHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008612 peptidyl-lysine modification to peptidyl-hypusine TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DOHH: view

No data available for SIGNOR curated interactions for DOHH Gene

Drugs & Compounds for DOHH Gene

(2) Drugs for DOHH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for DOHH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
deoxyhypusine
  • N(6)-(4-Aminobutyl)lysine
  • N(6)-(4-Aminobutyl)-L-lysine
82543-85-9
genes like me logo Genes that share compounds with DOHH: view

Transcripts for DOHH Gene

mRNA/cDNA for DOHH Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOHH

Alternative Splicing Database (ASD) splice patterns (SP) for DOHH Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: - -
SP3:

Relevant External Links for DOHH Gene

GeneLoc Exon Structure for
DOHH

Expression for DOHH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DOHH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DOHH Gene

This gene is overexpressed in Bone (25.5) and Heart (25.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DOHH Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DOHH

SOURCE GeneReport for Unigene cluster for DOHH Gene:

Hs.515064

Evidence on tissue expression from TISSUES for DOHH Gene

  • Lung(4.2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with DOHH: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DOHH Gene

Orthologs for DOHH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DOHH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DOHH 30 31
  • 98.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC485060 30
  • 88.82 (n)
DOHH 31
  • 86 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DOHH 30 31
  • 85.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dohh 30 17 31
  • 80.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dohh 30
  • 78.18 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DOHH 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DOHH 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DOHH 30 31
  • 74.61 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100145112 30
  • 63.59 (n)
Str.7532 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8013 30
Zebrafish
(Danio rerio)
Actinopterygii dohh 30 31
  • 63 (n)
OneToOne
wufb33c04 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11146 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002129 30
  • 62.68 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta nero 30 31
  • 61.62 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dohh-1 30 31
  • 55.44 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR426C 30
  • 58.12 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LIA1 30 31
  • 50.98 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14080g 30
  • 50.61 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G58180 30
  • 50.9 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0626100 30
  • 52.35 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05252 30
  • 56.26 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mmd1 30
  • 47.37 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
Species where no ortholog for DOHH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DOHH Gene

ENSEMBL:
Gene Tree for DOHH (if available)
TreeFam:
Gene Tree for DOHH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DOHH: view image

Paralogs for DOHH Gene

No data available for Paralogs for DOHH Gene

Variants for DOHH Gene

Additional dbSNP identifiers (rs#s) for DOHH Gene

Structural Variations from Database of Genomic Variants (DGV) for DOHH Gene

Variant ID Type Subtype PubMed ID
nsv470114 CNV loss 18288195
nsv526602 CNV loss 19592680
nsv953948 CNV deletion 24416366

Variation tolerance for DOHH Gene

Gene Damage Index Score: 0.82; 17.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOHH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOHH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DOHH Gene

Disorders for DOHH Gene

MalaCards: The human disease database

(1) MalaCards diseases for DOHH Gene - From: DISEASES

Disorder Aliases PubMed IDs
familial expansile osteolysis
  • feo
- elite association - COSMIC cancer census association via MalaCards
Search DOHH in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with DOHH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOHH Gene

Publications for DOHH Gene

  1. Molecular cloning, expression, and structural prediction of deoxyhypusine hydroxylase: a HEAT-repeat-containing metalloenzyme. (PMID: 16371467) Park JH … Park MH (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 4
  2. Deoxyhypusine hydroxylase is a Fe(II)-dependent, HEAT-repeat enzyme. Identification of amino acid residues critical for Fe(II) binding and catalysis [corrected]. (PMID: 16533814) Kim YS … Park MH (The Journal of biological chemistry 2006) 2 3 4
  3. Crystal Structure of the Peroxo-diiron(III) Intermediate of Deoxyhypusine Hydroxylase, an Oxygenase Involved in Hypusination. (PMID: 25865244) Han Z … Hilgenfeld R (Structure (London, England : 1993) 2015) 3 4
  4. Human deoxyhypusine hydroxylase, an enzyme involved in regulating cell growth, activates O2 with a nonheme diiron center. (PMID: 19706422) Vu VV … Que L (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DOHH Gene

Sources for DOHH Gene