Reviewed, UniProtKB/Swiss-Prot O09173 (HGD_MOUSE)

Names and origin

Protein names

Recommended name:
    Homogentisate 1,2-dioxygenase
    EC=1.13.11.5
Alternative name(s):
    Homogentisic acid oxidase
    Homogentisate oxygenase
    Homogentisicase

Gene names

Name:	Hgd
Synonyms:	Aku, Hgo

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	445 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Catalytic activity	Homogentisate + O2 = 4-maleylacetoacetate.
Cofactor	Iron.
Pathway	Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
Subunit structure	Homotrimer Probable.
Involvement in disease	Defects in Hgd are the cause of alkaptonuria (aku). Aku is an autosomal recessive error of metabolism which is characterized by an increase in the level of homogentisic acid.
Sequence similarities	Belongs to the homogentisate dioxygenase family.

Ontologies

Keywords
Biological process	Phenylalanine catabolism Tyrosine catabolism
Ligand	Iron Metal-binding
Molecular function	Dioxygenase Oxidoreductase
PTM	Acetylation
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	L-phenylalanine catabolic process Inferred from electronic annotation. Source: UniProtKB-KW oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW tyrosine catabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	homogentisate 1,2-dioxygenase activity Inferred from electronic annotation. Source: EC iron ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 445	445	Homogentisate 1,2-dioxygenase		PRO_0000220241
Sites
	Metal binding	335	1	Iron By similarity
	Metal binding	341	1	Iron By similarity
	Metal binding	371	1	Iron By similarity
Amino acid modifications
	Modified residue	98	1	N6-acetyllysine By similarity

Sequences

	Sequence		Length	Mass (Da)
	O09173-1 [UniParc]. Last modified July 1, 1997. Version 1. Checksum: C7CBBCFD3764B93F	FASTA	445	49,990
	10 20 30 40 50 60 MAELKYISGF GNECASEDPR CPGSLPKGQN NPQVCPYNLY AEQLSGSAFT CPRNTNKRSW 70 80 90 100 110 120 LYRILPSVSH KPFESIDQGH VTHNWDEVGP DPNQLRWKPF EIPKASEKKV DFVSGLYTLC 130 140 150 160 170 180 GAGDIKSNNG LAVHIFLCNS SMENRCFYNS DGDFLIVPQK GKLLIYTEFG KMSLQPNEIC 190 200 210 220 230 240 VIQRGMRFSV DVFEETRGYI LEVYGVHFEL PDLGPIGANG LANPRDFLIP VAWYEDRRVP 250 260 270 280 290 300 GGYTVINKFQ GKLFACKQDV SPFNVVTWHG NYTPYKYNLE NFMVINAVAF DHADPSIFTV 310 320 330 340 350 360 LTAKSLRPGV AIADFVIFPP RWGVADKTFR PPYYHRNCMS EFMGLIKGHY EAKQGGFLPG 370 380 390 400 410 420 GGSLHSAMTP HGPDADCFEK ASKAKLEPER IADGTMAFMF ESSLSLAVTK WGLKTCSCLD 430 440 ENYYKCWEPL RSHFTPNSRS PTEPK

References

[1]	"Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse." Schmidt S.R., Gehrig A., Koehler M.R., Schmid M., Mueller C.R., Kress W. Mamm. Genome 8:168-171(1997) [PubMed: 9069115] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE. Strain: C57BL/6 X CBA. Tissue: Liver.
[2]	"Murine liver homogentisate 1,2-dioxygenase. Purification to homogeneity and novel biochemical properties." Schmidt S.R., Muller C.R., Kress W. Eur. J. Biochem. 228:425-430(1995) [PubMed: 7705358] [Abstract] Cited for: CHARACTERIZATION. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U58988 mRNA. Translation: AAC53224.1.
IPI	IPI00114330.
UniGene	Mm.157442
3D structure databases
HSSP	HSSP built from PDB template 1EYB based on UniProtKB Q93099.
ModBase	Search...
Protein-protein interaction databases
STRING	O09173.
Proteomic databases
PRIDE	O09173.
Genome annotation databases
Ensembl	ENSMUST00000023519; ENSMUSP00000023519; ENSMUSG00000022821; Mus musculus. [Genome view]
UCSC	uc007zeg.1. mouse.
Organism-specific databases
CTD	15233.
MGI	MGI:96078. Hgd.
Phylogenomic databases
HOGENOM	O09173.
HOVERGEN	O09173.
Enzyme and pathway databases
BRENDA	1.13.11.5. 244.
Gene expression databases
ArrayExpress	O09173.
Bgee	O09173.
CleanEx	MM_HGD.
Genevestigator	O09173.
GermOnline	ENSMUSG00000022821. Mus musculus.
Family and domain databases
InterPro	IPR005708. Homogentis_dOase. [Graphical view]
PANTHER	PTHR11056. Homogentis_dOase. 1 hit.
Pfam	PF04209. HgmA. 1 hit. [Graphical view]
TIGRFAMs	TIGR01015. hmgA. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	287827.
SOURCE	Search...

Entry information

Entry name

HGD_MOUSE

Accession

Primary (citable) accession number: O09173

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	July 1, 1997
Last modified:	October 13, 2009
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)