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Details on Person UniProt:P30038 ALDH4A1
| Class:Id | ReferenceGeneProduct:62513 |
|---|---|
| _chainChangeLog | transit peptide:1-24 added on Fri February 6 2015;chain:25-563 added on Fri February 6 2015 |
| _displayName | UniProt:P30038 ALDH4A1 |
| _timestamp | 2025-02-21 19:15:16 |
| chain | transit peptide:1-24 chain:25-563 |
| checksum | 4D964771B7DB5FFD |
| comment | FUNCTION Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.CATALYTIC ACTIVITY L-glutamate 5-semialdehyde + NAD(+) + H2O = L-glutamate + NADH + 2 H(+)BIOPHYSICOCHEMICAL PROPERTIES Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2.SUBUNIT Homodimer.INTERACTION Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the aldehyde dehydrogenase family. |
| description | recommendedName: Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial shortName: P5C dehydrogenase ecNumber: 1.2.1.88 alternativeName: Aldehyde dehydrogenase family 4 member A1 alternativeName: L-glutamate gamma-semialdehyde dehydrogenase |
| geneName | ALDH4A1 ALDH4 P5CDH |
| identifier | P30038 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Direct protein sequencing Disease variant Mitochondrion NAD Oxidoreductase Phosphoprotein Proline metabolism Proteomics identification Reference proteome Transit peptide |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | ALDH4A1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9002191] ENSEMBL:ENSG00000159423 ALDH4A1 [Homo sapiens] |
| secondaryIdentifier | AL4A1_HUMAN A8K1Q7 B4DGE4 D2D4A3 Q16882 Q53HU4 Q5JNV6 Q8IZ38 Q96IF0 Q9UDI6 |
| sequenceLength | 563 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8974583] UniProt:P30038-1 ALDH4A1 [Homo sapiens] [ReferenceIsoform:8974584] UniProt:P30038-2 ALDH4A1 [Homo sapiens] [ReferenceIsoform:8974585] UniProt:P30038-3 ALDH4A1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:70673] ALDH4A1 [mitochondrial matrix] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P30038 ALDH4A1 (62513)
