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    Hgd homogentisate 1, 2-dioxygenase [ Mus musculus (house mouse) ]

    Gene ID: 15233, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Hgdprovided by MGI
    Official Full Name
    homogentisate 1, 2-dioxygenaseprovided by MGI
    Primary source
    MGI:MGI:96078
    See related
    Ensembl:ENSMUSG00000022821 AllianceGenome:MGI:96078
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hgo; aku
    Summary
    Enables homogentisate 1,2-dioxygenase activity. Acts upstream of or within amino acid metabolic process. Is expressed in several structures, including alimentary system; brain; genitourinary system; liver; and sensory organ. Used to study alkaptonuria. Human ortholog(s) of this gene implicated in alkaptonuria. Orthologous to human HGD (homogentisate 1,2-dioxygenase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 185.1), kidney adult (RPKM 147.2) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hgd in Genome Data Viewer
    Location:
    16 B3; 16 26.4 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (37400104..37452388)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (37579742..37632026)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene general transcription factor II E, polypeptide 1 (alpha subunit) Neighboring gene STARR-positive B cell enhancer ABC_E2461 Neighboring gene RAB, member RAS oncogene family-like 3 Neighboring gene predicted gene, 46559 Neighboring gene STARR-positive B cell enhancer ABC_E7447 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:37685266-37685449 Neighboring gene predicted gene, 35833

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. Hughes JH, et al. Hum Mol Genet, 2019 Dec 1. PMID 31600782, Free PMC Article
    2. Murine liver homogentisate 1,2-dioxygenase. Purification to homogeneity and novel biochemical properties. Schmidt SR, et al. Eur J Biochem, 1995 Mar 1. PMID 7705358
    3. The genetic defect of the alkaptonuric mouse (aku). Kress W, et al. Mamm Genome, 1999 Jan. PMID 9892737
    4. Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online. Manning K, et al. Hum Mutat, 1999. PMID 10094559
    5. X-ray-induced mutations in mice. RUSSELL WL. Cold Spring Harb Symp Quant Biol, 1951. PMID 14942747

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables homogentisate 1,2-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables homogentisate 1,2-dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables homogentisate 1,2-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-phenylalanine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-phenylalanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within amino acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tyrosine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    homogentisate 1,2-dioxygenase
    Names
    alkaptonuria
    homogentisate oxygenase
    homogentisic acid oxidase
    homogentisicase
    NP_038575.2
    XP_030104838.1

    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_013547.3 → NP_038575.2  homogentisate 1,2-dioxygenase

      See identical proteins and their annotated locations for NP_038575.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AC154762
      Consensus CDS
      CCDS49849.1
      UniProtKB/Swiss-Prot
      O09173, Q7TPP2
      UniProtKB/TrEMBL
      Q8CI38
      Related
      ENSMUSP00000125492.2, ENSMUST00000160847.2
      Conserved Domains (1) summary
      TIGR01015
      Location:3 → 434
      hmgA; homogentisate 1,2-dioxygenase

    RNA

    1. NR_027778.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC154762
      Related
      ENSMUST00000159787.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      37400104..37452388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248978.1 → XP_030104838.1  homogentisate 1,2-dioxygenase isoform X1

      UniProtKB/Swiss-Prot
      O09173, Q7TPP2
      UniProtKB/TrEMBL
      Q8CI38
      Conserved Domains (1) summary
      TIGR01015
      Location:3 → 434
      hmgA; homogentisate 1,2-dioxygenase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O09173.2 GenPept UniProtKB/Swiss-Prot:O09173

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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