Human Gene DOHH (ENST00000427575.6_6) from GENCODE V47lift37
  Description: deoxyhypusine hydroxylase, transcript variant 2 (from RefSeq NM_031304.5)
Gencode Transcript: ENST00000427575.6_6
Gencode Gene: ENSG00000129932.10_8
Transcript (Including UTRs)
   Position: hg19 chr19:3,490,822-3,500,672 Size: 9,851 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr19:3,491,490-3,496,812 Size: 5,323 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:3,490,822-3,500,672)mRNA (may differ from genome)Protein (302 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DOHH_HUMAN
DESCRIPTION: RecName: Full=Deoxyhypusine hydroxylase; Short=hDOHH; EC=1.14.99.29; AltName: Full=Deoxyhypusine dioxygenase; AltName: Full=Deoxyhypusine monooxygenase; AltName: Full=HEAT-like repeat-containing protein 1;
FUNCTION: Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)- L-lysine intermediate to form hypusine, an essential post- translational modification only found in mature eIF-5A factor.
CATALYTIC ACTIVITY: Protein N(6)-(4-aminobutyl)-L-lysine + AH(2) + O(2) = protein N(6)-((R)-4-amino-2-hydroxybutyl)-L-lysine + A + H(2)O.
COFACTOR: Binds 2 Fe(2+) ions per subunit.
PATHWAY: Protein modification; eIF5A hypusination.
SIMILARITY: Belongs to the deoxyhypusine hydroxylase family.
SIMILARITY: Contains 5 HEAT-like PBS-type repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.54 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 370.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.70186-0.434 Picture PostScript Text
3' UTR -282.30668-0.423 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR021133 - HEAT_type_2
IPR004155 - PBS_lyase_HEAT

Pfam Domains:
PF03130 - PBS lyase HEAT-like repeat
PF13646 - HEAT repeats

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

ModBase Predicted Comparative 3D Structure on Q9BU89
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0019135 deoxyhypusine monooxygenase activity
GO:0046872 metal ion binding

Biological Process:
GO:0008612 peptidyl-lysine modification to peptidyl-hypusine
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005575 cellular_component
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  JE850168 - Sequence 3 from Patent EP2822601.
BC009863 - Homo sapiens deoxyhypusine hydroxylase/monooxygenase, mRNA (cDNA clone MGC:16388 IMAGE:3938535), complete cds.
JE850167 - Sequence 2 from Patent EP2822601.
JE850166 - Sequence 1 from Patent EP2822601.
LF384675 - JP 2014500723-A/192178: Polycomb-Associated Non-Coding RNAs.
BC002817 - Homo sapiens deoxyhypusine hydroxylase/monooxygenase, mRNA (cDNA clone MGC:4293 IMAGE:3635058), complete cds.
JD223411 - Sequence 204435 from Patent EP1572962.
JD076128 - Sequence 57152 from Patent EP1572962.
JD253226 - Sequence 234250 from Patent EP1572962.
JD058455 - Sequence 39479 from Patent EP1572962.
JD077230 - Sequence 58254 from Patent EP1572962.
JD381087 - Sequence 362111 from Patent EP1572962.
JD207908 - Sequence 188932 from Patent EP1572962.
JD174565 - Sequence 155589 from Patent EP1572962.
JD390806 - Sequence 371830 from Patent EP1572962.
JD390805 - Sequence 371829 from Patent EP1572962.
JD138736 - Sequence 119760 from Patent EP1572962.
JD150425 - Sequence 131449 from Patent EP1572962.
KJ894879 - Synthetic construct Homo sapiens clone ccsbBroadEn_04273 DOHH gene, encodes complete protein.
LF323178 - JP 2014500723-A/130681: Polycomb-Associated Non-Coding RNAs.
JD219651 - Sequence 200675 from Patent EP1572962.
JD254918 - Sequence 235942 from Patent EP1572962.
MA620252 - JP 2018138019-A/192178: Polycomb-Associated Non-Coding RNAs.
MA558755 - JP 2018138019-A/130681: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5905 - hypusine biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9BU89 (Reactome details) participates in the following event(s):

R-HSA-204662 DOHH:Fe2+ hydroxylates Dhp-K50-EIF5A to form Hyp-K50-EIF5A
R-HSA-204626 Hypusine synthesis from eIF5A-lysine
R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: DOHH , DOHH_HUMAN, ENST00000427575.1, ENST00000427575.2, ENST00000427575.3, ENST00000427575.4, ENST00000427575.5, HLRC1 , NM_031304, O75265, Q9BU89, uc319wqi.1, uc319wqi.2
UCSC ID: ENST00000427575.6_6
RefSeq Accession: NM_001145165.2
Protein: Q9BU89 (aka DOHH_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.