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HGD homogentisate 1,2-dioxygenase [ Homo sapiens (human) ]

Gene ID: 3081, updated on 23-May-2015
Official Symbol
HGDprovided by HGNC
Official Full Name
homogentisate 1,2-dioxygenaseprovided by HGNC
Primary source
HGNC:HGNC:4892
See related
Ensembl:ENSG00000113924; HPRD:06315; MIM:607474; Vega:OTTHUMG00000159441
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
AKU; HGO
Summary
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
Orthologs
See HGD in MapViewer
Location:
3q13.33
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (120628168..120682571, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120347015..120401418, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L34 pseudogene 9 Neighboring gene NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa Neighboring gene RAB, member of RAS oncogene family-like 3 Neighboring gene general transcription factor IIE, polypeptide 1, alpha 56kDa

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ94126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
homogentisate 1,2-dioxygenase activity EXP
Inferred from Experiment
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-phenylalanine catabolic process IEA
Inferred from Electronic Annotation
more info
 
L-phenylalanine catabolic process TAS
Traceable Author Statement
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
tyrosine catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
homogentisate 1,2-dioxygenase
Names
homogentisate 1,2-dioxygenase
homogentisate oxidase
homogentisate oxygenase
homogentisic acid oxidase
homogentisicase
NP_000178.2

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_011957.1 RefSeqGene

    Range
    4911..59314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000187.3NP_000178.2  homogentisate 1,2-dioxygenase

    See identical proteins and their annotated locations for NP_000178.2

    Status: REVIEWED

    Source sequence(s)
    AA861603, AC133474, AK313563, DB231845
    Consensus CDS
    CCDS3000.1
    UniProtKB/Swiss-Prot
    Q93099
    Related
    ENSP00000283871, OTTHUMP00000215350, ENST00000283871, OTTHUMT00000355410
    Conserved Domains (1) summary
    TIGR01015
    Location:3434
    Homogentisate_12-dioxygenase; homogentisate 1,2-dioxygenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    120628168..120682571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247412.1XP_005247469.1  

    Conserved Domains (1) summary
    cl21464
    Location:3359
    ABD; Alpha-Mannosidase Binding Domain of Atg19/34
  2. XM_011512746.1XP_011511048.1  

    Conserved Domains (1) summary
    cl21464
    Location:3293
    ABD; Alpha-Mannosidase Binding Domain of Atg19/34
  3. XM_005247413.1XP_005247470.1  

    Conserved Domains (1) summary
    cl21464
    Location:3335
    ABD; Alpha-Mannosidase Binding Domain of Atg19/34
  4. XM_005247414.3XP_005247471.1  

    See identical proteins and their annotated locations for XP_005247471.1

    Conserved Domains (1) summary
    cl21464
    Location:3227
    ABD; Alpha-Mannosidase Binding Domain of Atg19/34

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    120310676..120365085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)