Q86XE5 · HOGA1_HUMAN
- Protein4-hydroxy-2-oxoglutarate aldolase, mitochondrial
- GeneHOGA1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids327 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalyzes the final step in the metabolic pathway of hydroxyproline.
Catalytic activity
- (4S)-4-hydroxy-2-oxoglutarate = glyoxylate + pyruvate
Activity regulation
Inhibited by divalent cations.
Features
Showing features for binding site, site, active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 77-78 | substrate | ||||
Sequence: SN | ||||||
Site | 168 | Involved in proton transfer during cleavage | ||||
Sequence: Y | ||||||
Active site | 196 | Schiff-base intermediate with substrate | ||||
Sequence: K | ||||||
Binding site | 198 | substrate | ||||
Sequence: S | ||||||
Binding site | 222 | substrate | ||||
Sequence: G |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrion | |
Molecular Function | (4S)-4-hydroxy-2-oxoglutarate aldolase activity | |
Molecular Function | 4-hydroxy-2-oxoglutarate aldolase activity | |
Molecular Function | N-acetylneuraminate lyase activity | |
Molecular Function | protein homodimerization activity | |
Biological Process | 4-hydroxyproline catabolic process | |
Biological Process | glyoxylate catabolic process | |
Biological Process | glyoxylate metabolic process | |
Biological Process | N-acetylneuraminate catabolic process | |
Biological Process | oxalate metabolic process | |
Biological Process | pyruvate biosynthetic process |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended name4-hydroxy-2-oxoglutarate aldolase, mitochondrial
- 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 accessionQ86XE5
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Hyperoxaluria primary 3 (HP3)
- Note
- DescriptionA disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection.
- See alsoMIM:613616
Natural variants in HP3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_064035 | 257 | C>G | in HP3; dbSNP:rs267606764 | |
VAR_064036 | 287 | G>V | in HP3; dbSNP:rs138207257 | |
VAR_064037 | 315 | missing | in HP3 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 77 | 2-fold decrease in kcat and a nearly 8-fold increase in KM. | ||||
Sequence: S → A | ||||||
Mutagenesis | 77 | Significant loss of activity. | ||||
Sequence: S → T | ||||||
Mutagenesis | 78 | 6-fold increase in KM. | ||||
Sequence: N → A | ||||||
Mutagenesis | 78 | 25-fold increase in KM. | ||||
Sequence: N → Q | ||||||
Mutagenesis | 140 | No change in activity. | ||||
Sequence: Y → F | ||||||
Mutagenesis | 168 | No enzymatic activity. | ||||
Sequence: Y → F | ||||||
Mutagenesis | 196 | No enzymatic activity. | ||||
Sequence: K → A | ||||||
Mutagenesis | 198 | 2.5-fold decrease in kcat and 4.2 fold increase in KM. | ||||
Sequence: S → A | ||||||
Mutagenesis | 198 | 7-fold increase in KM. | ||||
Sequence: S → T | ||||||
Natural variant | VAR_064035 | 257 | in HP3; dbSNP:rs267606764 | |||
Sequence: C → G | ||||||
Natural variant | VAR_064036 | 287 | in HP3; dbSNP:rs138207257 | |||
Sequence: G → V | ||||||
Natural variant | VAR_064037 | 315 | in HP3 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 461 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-25 | Mitochondrion | ||||
Sequence: MLGPQVWSSVRQGLSRSLSRNVGVW | ||||||
Chain | PRO_0000273346 | 26-327 | 4-hydroxy-2-oxoglutarate aldolase, mitochondrial | |||
Sequence: ASGEGKKVDIAGIYPPVTTPFTATAEVDYGKLEENLHKLGTFPFRGFVVQGSNGEFPFLTSSERLEVVSRVRQAMPKNRLLLAGSGCESTQATVEMTVSMAQVGADAAMVVTPCYYRGRMSSAALIHHYTKVADLSPIPVVLYSVPANTGLDLPVDAVVTLSQHPNIVGMKDSGGDVTRIGLIVHKTRKQDFQVLAGSAGFLMASYALGAVGGVCALANVLGAQVCQLERLCCTGQWEDAQKLQHRLIEPNAAVTRRFGIPGLKKIMDWFGYYGGPCRAPLQELSPAEEEALRMDFTSNGWL |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Homotetramer.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q86XE5 | CIMAP1A Q96PU9 | 3 | EBI-9658477, EBI-12002088 | |
BINARY | Q86XE5 | STARD7 Q9NQZ5 | 2 | EBI-9658477, EBI-4402938 | |
BINARY | Q86XE5 | USP47 Q96K76 | 3 | EBI-9658477, EBI-2514143 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
Q86XE5-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length327
- Mass (Da)35,249
- Last updated2003-06-01 v1
- Checksum2DC011E4F9FD32C9
Q86XE5-3
- Name2
- Differences from canonical
- 71-233: Missing
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H7BY76 | H7BY76_HUMAN | HOGA1 | 85 |
Sequence caution
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_022515 | 71-233 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK289440 EMBL· GenBank· DDBJ | BAF82129.1 EMBL· GenBank· DDBJ | mRNA | ||
AL355315 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471066 EMBL· GenBank· DDBJ | EAW49912.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC011916 EMBL· GenBank· DDBJ | AAH11916.1 EMBL· GenBank· DDBJ | mRNA | ||
BC045550 EMBL· GenBank· DDBJ | AAH45550.1 EMBL· GenBank· DDBJ | mRNA | ||
BC057821 EMBL· GenBank· DDBJ | AAH57821.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ312051 EMBL· GenBank· DDBJ | CAC84901.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. |