PRODH Gene Summary [Human]
This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
Details
| Type | Protein Coding |
| Official Symbol | PRODH |
| Official Name | proline dehydrogenase 1 [Source:HGNC Symbol;Acc:HGNC:9453] |
| Ensembl ID | ENSG00000100033 |
| Bio databases IDs | |
| Aliases | proline dehydrogenase 1, proline oxidase |
| Synonyms | AC007325.2, HSPOX2, LOC102724788, LOC682565, PIG6, POX, Pro-1, PRODH1, proline dehydrogenase, proline dehydrogenase 1, Proline oxidase, TP53I6, Ym24d07 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRODH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FAD binding
- proline dehydrogenase
- enzyme
- amino acid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hyperprolinemia 1
- schizophrenia
- schizophrenia type 4
- global developmental delay with intellectual disability
- survival
- hereditary disorder
- colorectal adenocarcinoma
- colorectal carcinomagenesis
role in cell
- expression in
- contact growth inhibition
- growth
- phosphorylation in
- apoptosis
- proliferation
- production in
- migration
- autophagy by
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- mitochondrial fraction
- intracellular membrane-bounded organelle
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRODH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 4-hydroxyproline catabolic process
- proline metabolic process
- induction of apoptosis by oxidative stress
- proline catabolic process
- proline catabolic process to glutamate
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- intracellular membrane-bounded organelle
- mitochondrion
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- FAD binding
- proline dehydrogenase activity