ID:PROD_HUMAN DESCRIPTION: RecName: Full=Proline dehydrogenase 1, mitochondrial; EC=1.5.99.8; AltName: Full=Proline oxidase; AltName: Full=Proline oxidase 2; AltName: Full=p53-induced gene 6 protein; Flags: Precursor; FUNCTION: Converts proline to delta-1-pyrroline-5-carboxylate. CATALYTIC ACTIVITY: L-proline + acceptor = (S)-1-pyrroline-5- carboxylate + reduced acceptor. COFACTOR: FAD. PATHWAY: Amino-acid degradation; L-proline degradation into L- glutamate; L-glutamate from L-proline: step 1/2. SUBCELLULAR LOCATION: Mitochondrion matrix. TISSUE SPECIFICITY: Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas. INDUCTION: During p53/TP53-induced apoptosis. DISEASE: Defects in PRODH are the cause of hyperprolinemia type 1 (HP-1) [MIM:239500]. HP-1 is a disorder characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated with the 22q11 velocardiofacial and DiGeorge syndrome. DISEASE: Defects in PRODH are associated with susceptibility to schizophrenia type 4 (SCZD4) [MIM:600850]. A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. SIMILARITY: Belongs to the proline oxidase family. SEQUENCE CAUTION: Sequence=AAC39529.1; Type=Frameshift; Positions=540, 563, 568, 577, 580, 582; Sequence=AAH68260.1; Type=Frameshift; Positions=123; Sequence=AAH94736.1; Type=Frameshift; Positions=40; Sequence=AAH94736.1; Type=Miscellaneous discrepancy; Note=Artifact. Missing internal sequence that doesn't correspond to an exon-intron boundary; Sequence=BAD92709.1; Type=Miscellaneous discrepancy; Note=Intron retention. Includes intronic sequence at the 5' end; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRODH";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43272
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006560 proline metabolic process GO:0006562 proline catabolic process GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress GO:0010133 proline catabolic process to glutamate GO:0010942 positive regulation of cell death GO:0019470 4-hydroxyproline catabolic process GO:0055114 oxidation-reduction process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
