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    DHODH dihydroorotate dehydrogenase (quinone) [ Homo sapiens (human) ]

    Gene ID: 1723, updated on 4-Dec-2023

    Summary

    Official Symbol
    DHODHprovided by HGNC
    Official Full Name
    dihydroorotate dehydrogenase (quinone)provided by HGNC
    Primary source
    HGNC:HGNC:2867
    See related
    Ensembl:ENSG00000102967 MIM:126064; AllianceGenome:HGNC:2867
    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
    URA1; POADS; DHOdehase
    Summary
    The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 7.8), kidney (RPKM 1.7) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See DHODH in Genome Data Viewer
    Location:
    16q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (72008744..72027659)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77826803..77845694)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72042643..72061558)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene polycystin 1 like 3, transient receptor potential channel interacting Neighboring gene ribosomal protein L39 pseudogene 31 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:72042438-72042637 Neighboring gene ATP synthase F1 subunit alpha pseudogene 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:72057307-72058506 Neighboring gene haptoglobin Neighboring gene haptoglobin-related protein

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Miller syndrome
    MedGen: C0265257 OMIM: 263750 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dihydroorotase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables dihydroorotate dehydrogenase (quinone) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables dihydroorotate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' UMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 'de novo' pyrimidine nucleobase biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in UDP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyrimidine ribonucleotide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    dihydroorotate dehydrogenase (quinone), mitochondrial
    Names
    dihydroorotate oxidase
    human complement of yeast URA1
    NP_001352.2
    XP_005255886.1
    XP_047289630.1
    XP_054235689.1

    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.

    Genomic

    1. NG_016271.1 RefSeqGene

      Range
      5001..21674
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001361.5NP_001352.2  dihydroorotate dehydrogenase (quinone), mitochondrial

      See identical proteins and their annotated locations for NP_001352.2

      Status: REVIEWED

      Source sequence(s)
      AC009087, AI499306, AU130529, AU152444, BC065245, BE789211
      Consensus CDS
      CCDS42192.1
      UniProtKB/Swiss-Prot
      A8K8C8, Q02127, Q6P176
      UniProtKB/TrEMBL
      I3NI32
      Related
      ENSP00000219240.4, ENST00000219240.9
      Conserved Domains (1) summary
      cd04738
      Location:45373
      DHOD_2_like; Dihydroorotate dehydrogenase (DHOD) class 2. DHOD catalyzes the oxidation of (S)-dihydroorotate to orotate. This is the fourth step and the only redox reaction in the de novo biosynthesis of UMP, the precursor of all pyrimidine nucleotides. DHOD requires ...

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      72008744..72027659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433674.1XP_047289630.1  dihydroorotate dehydrogenase (quinone), mitochondrial isoform X1

      UniProtKB/TrEMBL
      I3NI32
    2. XM_005255829.5XP_005255886.1  dihydroorotate dehydrogenase (quinone), mitochondrial isoform X2

      Conserved Domains (1) summary
      cd04738
      Location:3230
      DHOD_2_like; Dihydroorotate dehydrogenase (DHOD) class 2. DHOD catalyzes the oxidation of (S)-dihydroorotate to orotate. This is the fourth step and the only redox reaction in the de novo biosynthesis of UMP, the precursor of all pyrimidine nucleotides. DHOD requires ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      77826803..77845694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379714.1XP_054235689.1  dihydroorotate dehydrogenase (quinone), mitochondrial isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001025193.1: Suppressed sequence

      Description
      NM_001025193.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.