Tbio ALDH4A1 Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Protein Summary

Description

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. This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

Uniprot Accession IDs

• P30038
• A8K1Q7
• B4DGE4
• D2D4A3
• Q16882
• Q53HU4
• Q5JNV6
• Q8IZ38
• Q96IF0
• Q9UDI6
• P5C dehydrogenase

Gene Name

• ALDH4A1

Ensembl ID

• ENST00000290597
• ENSP00000290597
• ENSG00000159423
• ENST00000375341
• ENSP00000364490
• ENST00000538309
• ENSP00000442988
• ENST00000538839
• ENSP00000446071

Symbol

• ALDH4
• P5CDH
• P5CD
• ALDH4
• P5CDh

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.92
disease perturbation	0.79
histone modification site profile	0.78
gene perturbation	0.77
co-expressed gene	0.76

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 84.95   (req: < 5)

Gene RIFs: 7   (req: <= 3)

Antibodies: 259   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 84.95   (req: >= 5)

Gene RIFs: 7   (req: > 3)

Antibodies: 259   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0