Q93099 · HGD_HUMAN
- ProteinHomogentisate 1,2-dioxygenase
- GeneHGD
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids445 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalyzes the conversion of homogentisate to maleylacetoacetate.
Catalytic activity
- homogentisate + O2 = 4-maleylacetoacetate + H+This reaction proceeds in the forward direction.
Cofactor
Pathway
Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | extracellular exosome | |
Molecular Function | homogentisate 1,2-dioxygenase activity | |
Molecular Function | identical protein binding | |
Molecular Function | metal ion binding | |
Biological Process | L-phenylalanine catabolic process | |
Biological Process | tyrosine catabolic process |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameHomogentisate 1,2-dioxygenase
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ93099
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Disease & Variants
Involvement in disease
Alkaptonuria (AKU)
- Note
- DescriptionAn autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.
- See alsoMIM:203500
Natural variants in AKU
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_073076 | 3 | in AKU; dbSNP:rs200412910 | |||
Sequence: E → A | ||||||
Natural variant | VAR_073077 | 13 | in AKU; dbSNP:rs1458752246 | |||
Sequence: E → K | ||||||
Natural variant | VAR_073078 | 18 | in AKU | |||
Sequence: D → N | ||||||
Natural variant | VAR_009618 | 25 | in AKU | |||
Sequence: L → P | ||||||
Natural variant | VAR_073079 | 33 | in AKU | |||
Sequence: Q → R | ||||||
Natural variant | VAR_005272 | 42 | in AKU; dbSNP:rs373921680 | |||
Sequence: E → A | ||||||
Natural variant | VAR_073080 | 44 | in AKU; dbSNP:rs1049246177 | |||
Sequence: L → F | ||||||
Natural variant | VAR_073081 | 53 | in AKU; dbSNP:rs200808744 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_005273 | 60 | in AKU | |||
Sequence: W → G | ||||||
Natural variant | VAR_073082 | 61 | in AKU; dbSNP:rs1324654414 | |||
Sequence: L → P | ||||||
Natural variant | VAR_005274 | 62 | in AKU; dbSNP:rs1174584850 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_073083 | 73 | in AKU | |||
Sequence: F → L | ||||||
Natural variant | VAR_049353 | 80 | in dbSNP:rs2255543 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_073084 | 92 | in AKU | |||
Sequence: P → T | ||||||
Natural variant | VAR_005275 | 97 | in AKU | |||
Sequence: W → G | ||||||
Natural variant | VAR_073085 | 97 | in AKU | |||
Sequence: W → R | ||||||
Natural variant | VAR_073086 | 115 | in AKU; dbSNP:rs755734596 | |||
Sequence: G → R | ||||||
Natural variant | VAR_073087 | 116 | in AKU; dbSNP:rs569846003 | |||
Sequence: L → P | ||||||
Natural variant | VAR_073088 | 120 | in AKU; dbSNP:rs752153829 | |||
Sequence: C → F | ||||||
Natural variant | VAR_073089 | 120 | in AKU; dbSNP:rs149165166 | |||
Sequence: C → W | ||||||
Natural variant | VAR_005276 | 122 | in AKU; dbSNP:rs544956641 | |||
Sequence: A → D | ||||||
Natural variant | VAR_073090 | 122 | in AKU; dbSNP:rs544956641 | |||
Sequence: A → V | ||||||
Natural variant | VAR_073091 | 123 | in AKU; dbSNP:rs374473331 | |||
Sequence: G → A | ||||||
Natural variant | VAR_073092 | 123 | in AKU; dbSNP:rs564979861 | |||
Sequence: G → R | ||||||
Natural variant | VAR_073093 | 137 | in AKU | |||
Sequence: L → P | ||||||
Natural variant | VAR_073094 | 152 | in AKU; dbSNP:rs1553717936 | |||
Sequence: G → A | ||||||
Natural variant | VAR_005277 | 153 | in AKU; dbSNP:rs775274569 | |||
Sequence: D → G | ||||||
Natural variant | VAR_073095 | 158 | in AKU; dbSNP:rs375396766 | |||
Sequence: P → L | ||||||
Natural variant | VAR_005278 | 161 | in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients; dbSNP:rs28941783 | |||
Sequence: G → R | ||||||
Natural variant | VAR_073096 | 168 | in AKU; dbSNP:rs780173554 | |||
Sequence: E → D | ||||||
Natural variant | VAR_009619 | 168 | in AKU; loss of activity; dbSNP:rs375283568 | |||
Sequence: E → K | ||||||
Natural variant | VAR_073097 | 169 | in AKU; dbSNP:rs756134838 | |||
Sequence: F → L | ||||||
Natural variant | VAR_073098 | 171 | in AKU | |||
Sequence: K → N | ||||||
Natural variant | VAR_073099 | 172 | ||||
Sequence: M → T | ||||||
Natural variant | VAR_073100 | 178 | in AKU | |||
Sequence: E → G | ||||||
Natural variant | VAR_073101 | 183 | in AKU; dbSNP:rs1349543050 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_073102 | 187 | in AKU; dbSNP:rs756255206 | |||
Sequence: R → G | ||||||
Natural variant | VAR_005279 | 189 | in AKU; dbSNP:rs2107510544 | |||
Sequence: S → I | ||||||
Natural variant | VAR_073103 | 197 | in AKU; dbSNP:rs1414279737 | |||
Sequence: R → G | ||||||
Natural variant | VAR_005280 | 216 | in AKU; dbSNP:rs767201131 | |||
Sequence: I → T | ||||||
Natural variant | VAR_073104 | 217 | in AKU | |||
Sequence: G → W | ||||||
Natural variant | VAR_073105 | 219 | in AKU | |||
Sequence: N → S | ||||||
Natural variant | VAR_005281 | 225 | in AKU; dbSNP:rs562853291 | |||
Sequence: R → H | ||||||
Natural variant | VAR_073106 | 225 | in AKU; dbSNP:rs562853291 | |||
Sequence: R → L | ||||||
Natural variant | VAR_073107 | 225 | in AKU; dbSNP:rs562853291 | |||
Sequence: R → P | ||||||
Natural variant | VAR_005282 | 227 | in AKU; dbSNP:rs1941093400 | |||
Sequence: F → S | ||||||
Natural variant | VAR_005283 | 230 | in AKU; complete loss of activity; dbSNP:rs28942100 | |||
Sequence: P → S | ||||||
Natural variant | VAR_005284 | 230 | in AKU | |||
Sequence: P → T | ||||||
Natural variant | VAR_073108 | 245 | in AKU | |||
Sequence: V → F | ||||||
Natural variant | VAR_073109 | 258 | in AKU; dbSNP:rs759843592 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_073110 | 269 | in AKU; dbSNP:rs756522409 | |||
Sequence: H → R | ||||||
Natural variant | VAR_009620 | 270 | in AKU; dbSNP:rs120074174 | |||
Sequence: G → R | ||||||
Natural variant | VAR_073111 | 276 | in AKU; dbSNP:rs1160502581 | |||
Sequence: K → N | ||||||
Natural variant | VAR_005285 | 291 | in AKU; dbSNP:rs754428438 | |||
Sequence: D → E | ||||||
Natural variant | VAR_005286 | 300 | in AKU; dbSNP:rs120074170 | |||
Sequence: V → G | ||||||
Natural variant | VAR_073112 | 321 | in AKU | |||
Sequence: R → P | ||||||
Natural variant | VAR_073113 | 329 | in AKU | |||
Sequence: F → C | ||||||
Natural variant | VAR_008744 | 330 | in AKU; dbSNP:rs120074171 | |||
Sequence: R → S | ||||||
Natural variant | VAR_073114 | 337 | in AKU | |||
Sequence: N → D | ||||||
Natural variant | VAR_073115 | 359 | in AKU; dbSNP:rs764037565 | |||
Sequence: P → L | ||||||
Natural variant | VAR_073116 | 360 | in AKU | |||
Sequence: G → A | ||||||
Natural variant | VAR_073117 | 360 | in AKU; dbSNP:rs368717991 | |||
Sequence: G → R | ||||||
Natural variant | VAR_073118 | 361 | in AKU; dbSNP:rs765219004 | |||
Sequence: G → R | ||||||
Natural variant | VAR_073119 | 362 | in AKU | |||
Sequence: G → E | ||||||
Natural variant | VAR_005287 | 368 | in AKU; loss of activity; dbSNP:rs120074173 | |||
Sequence: M → V | ||||||
Natural variant | VAR_073120 | 369 | in AKU; dbSNP:rs765912447 | |||
Sequence: T → N | ||||||
Natural variant | VAR_008745 | 371 | in AKU; dbSNP:rs120074172 | |||
Sequence: H → R | ||||||
Natural variant | VAR_073121 | 373 | in AKU; dbSNP:rs138558042 | |||
Sequence: P → L | ||||||
Natural variant | VAR_073122 | 374 | in AKU; dbSNP:rs981454067 | |||
Sequence: D → H | ||||||
Natural variant | VAR_073123 | 401 | in AKU; dbSNP:rs767159114 | |||
Sequence: E → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 586 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000220240 | 1-445 | Homogentisate 1,2-dioxygenase | |||
Sequence: MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN | ||||||
Modified residue | 98 | N6-acetyllysine | ||||
Sequence: K | ||||||
Modified residue | 414 | N6-succinyllysine | ||||
Sequence: K |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Highest expression in the prostate, small intestine, colon, kidney and liver.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homohexamer arranged as a dimer of trimers.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q93099 | HGD Q93099 | 4 | EBI-3907760, EBI-3907760 | |
BINARY | Q93099 | NTAQ1 Q96HA8 | 3 | EBI-3907760, EBI-741158 | |
BINARY | Q93099 | TERF1 P54274 | 2 | EBI-3907760, EBI-710997 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length445
- Mass (Da)49,964
- Last updated2010-05-18 v2
- ChecksumF99B51C134FFF965
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 383 | in Ref. 4; BAF83471 | ||||
Sequence: K → R |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U63008 EMBL· GenBank· DDBJ | AAB16836.1 EMBL· GenBank· DDBJ | mRNA | ||
Z75048 EMBL· GenBank· DDBJ | CAA99340.1 EMBL· GenBank· DDBJ | mRNA | ||
AF000573 EMBL· GenBank· DDBJ | AAC51650.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF045167 EMBL· GenBank· DDBJ | AAC02698.1 EMBL· GenBank· DDBJ | mRNA | ||
AK290782 EMBL· GenBank· DDBJ | BAF83471.1 EMBL· GenBank· DDBJ | mRNA | ||
AK313563 EMBL· GenBank· DDBJ | BAG36337.1 EMBL· GenBank· DDBJ | mRNA | ||
AC126182 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC133474 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471052 EMBL· GenBank· DDBJ | EAW79524.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC071757 EMBL· GenBank· DDBJ | AAH71757.1 EMBL· GenBank· DDBJ | mRNA |