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    DOHH deoxyhypusine hydroxylase [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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

    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)

    NEW Try the new Transcript table

    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_001145165.2NP_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:45298
      HEAT; HEAT repeat [General function prediction only]
      sd00044
      Location:69100
      HEAT; HEAT repeat [structural motif]
    2. NM_031304.5NP_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:45298
      HEAT; HEAT repeat [General function prediction only]
      sd00044
      Location:69100
      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_011528341.3XP_011526643.1  deoxyhypusine hydroxylase isoform X1

      Conserved Domains (3) summary
      smart00567
      Location:85114
      EZ_HEAT; E-Z type HEAT repeats
      pfam13646
      Location:41114
      HEAT_2; HEAT repeats
      sd00044
      Location:69100
      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_054322293.1XP_054178268.1  deoxyhypusine hydroxylase isoform X1