PYCR1 Gene Summary [Human]
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | PYCR1 |
| Official Name | pyrroline-5-carboxylate reductase 1 [Source:HGNC Symbol;Acc:HGNC:9721] |
| Ensembl ID | ENSG00000183010 |
| Bio databases IDs | |
| Aliases | pyrroline-5-carboxylate reductase 1 |
| Synonyms | ARCL2B, ARCL3B, P5C, P5CR, P5CR 1, PIG45, PP222, PRO3, PYCR, pyrroline-5-carboxylate reductase 1 |
| 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 PYCR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- pyrroline-5-carboxylate reductase
- NADP oxidoreductase coenzyme F420-dependent
- enzyme
- protein binding
- Pyrroline-5-carboxylate reductase dimerization
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- liver cancer
- epithelial cancer
- organismal death
- autosomal recessive cutis laxa type 3B
- hepatocellular carcinoma
- autosomal recessive cutis laxa type 2B
- hereditary disorder
- cutis laxa
- lung adenocarcinoma
role in cell
- expression in
- proliferation
- apoptosis
- migration
- phosphorylation in
- invasion by
- response by
- synthesis in
- fragmentation in
- G1 phase
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
- Nucleus
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PYCR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of mitochondrial membrane potential
- cellular response to oxidative stress
- proline biosynthetic process
- L-proline biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- pyrroline-5-carboxylate reductase activity
- protein binding