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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Summary
- UniProt ID
- P08559
- Gene Symbol
-
- PDHA1
- PHE1A
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P08559
- PubChem
- P08559
- The Human Metabolome Database
- HMDBP00046
- The O-GlcNAc Database
- P08559
- O-GlcNAcAtlas
- P08559
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
- Gene Ontology (GO)
| GO Term |
|---|
| glucose metabolic process |
| tricarboxylic acid cycle |
| acetyl-CoA biosynthetic process from pyruvate |
| GO Term |
|---|
| nucleus |
| nucleolus |
| mitochondrion |
| mitochondrial matrix |
| mitochondrial pyruvate dehydrogenase complex |
| pyruvate dehydrogenase complex |
| GO Term |
|---|
| pyruvate dehydrogenase (acetyl-transferring) activity |
| pyruvate dehydrogenase (NAD+) activity |
Sequence
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 13 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Mitochondrial protein degradation | Homo sapiens |
| PDH complex synthesizes acetyl-CoA from PYR | Homo sapiens |
| Regulation of pyruvate dehydrogenase (PDH) complex | Homo sapiens |
| Signaling by Retinoic Acid | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050562 | West syndrome | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0050835 | generalized dystonia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0060891 | Parkinson's disease 19A |
