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

Gene ID: 15233, updated on 28-Oct-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, Oct 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 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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