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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
pyruvate dehydrogenase E1 subunit alpha 1
Summary
- Gene Symbol
-
- PDHA1
- Aliases
-
- E1alpha
- pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Glucose metabolism
- Leigh syndrome
- Mitochondrion
- Oxidoreductase
- Phosphoprotein
- Pyruvate
- Reference proteome
- Thiamine pyrophosphate
- Transit peptide
- Tricarboxylic acid cycle
- Proteins
| UniProt | Protein Name |
|---|---|
| P08559 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glucose metabolic process | ||
| acetyl-CoA biosynthetic process from pyruvate | ||
| tricarboxylic acid cycle |
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
organonitrogen compound metabolic process [inference]
biosynthetic process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
organophosphate metabolic process [inference]
organic cyclic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
purine-containing compound metabolic process [inference]
organonitrogen compound metabolic process [inference]
organic substance biosynthetic process [inference]
cellular process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| mitochondrial pyruvate dehydrogenase complex |
|
|
| pyruvate dehydrogenase complex | ||
| mitochondrial matrix | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| pyruvate dehydrogenase (acetyl-transferring) activity | ||
| pyruvate dehydrogenase (NAD+) activity | ||
| protein binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0080326 | familial hypertrophic cardiomyopathy | |
| DOID:0111375 | fetal akinesia deformation sequence syndrome | |
| DOID:0111377 | fetal akinesia deformation sequence syndrome 1 | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:10283 | prostate cancer | |
| DOID:10286 | prostate carcinoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002131 | Episodic ataxia |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002171 | Gliosis |
| HP:0002187 | Intellectual disability, profound |
| HP:0002329 | Drowsiness |
| HP:0002350 | Cerebellar cyst |
| HP:0002490 | Increased CSF lactate |
| HP:0002521 | Hypsarrhythmia |
| HP:0002540 | Inability to walk |
| HP:0002643 | Neonatal respiratory distress |
| Disease ID | Disease Name |
|---|---|
| OMIM:312170 |
|
| ORPHA:79243 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 3565996 | WB:WBGene00011510 | ||
| 31406 | FB:FBgn0028325 | ||
| 31407 | FB:FBgn0029722 | ||
| 100184477 | CIOIN03141 | ||
| 102355937 | LATCH11616 | ||
| 406702 | ZFIN:ZDB-GENE-040426-2719 | DANRE37248 | |
| 436672 | ZFIN:ZDB-GENE-040718-96 | ||
| 113570187 | ELEEL07593 | ||
| 115154783 | SALTR102617 | ||
| 115204388 | SALTR80927 |
