MGP Database

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MGP002456

UniProt Annotations

Entry Information
Gene Nameproline dehydrogenase (oxidase) 1
Protein EntryPROD_HUMAN
UniProt IDO43272
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=O43272-4; Sequence=Displayed; Name=2; IsoId=O43272-2; Sequence=VSP_021848; Name=3; IsoId=O43272-1; Sequence=VSP_040848, VSP_040849;
Catalytic ActivityL-proline + a quinone = (S)-1-pyrroline-5- carboxylate + a quinol. {ECO:0000269|PubMed:15662599}.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:15662599};
DiseaseHyperprolinemia 1 (HP-1) [MIM:239500]: Characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated with the 22q11 velocardiofacial and DiGeorge syndrome. {ECO:0000269|PubMed:12217952}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSchizophrenia 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. {ECO:0000269|PubMed:11891283}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionConverts proline to delta-1-pyrroline-5-carboxylate.
InductionDuring p53/TP53-induced apoptosis. {ECO:0000269|PubMed:9305847}.
PathwayAmino-acid degradation; L-proline degradation into L- glutamate; L-glutamate from L-proline: step 1/2.
Sequence CautionSequence=AAC39529.1; Type=Frameshift; Positions=540, 563, 568, 577, 580, 582; Evidence={ECO:0000305}; Sequence=AAH68260.1; Type=Frameshift; Positions=123; Evidence={ECO:0000305}; Sequence=AAH94736.1; Type=Frameshift; Positions=40; Evidence={ECO:0000305}; Sequence=AAH94736.1; Type=Miscellaneous discrepancy; Note=Artifact. Missing internal sequence that doesn't correspond to an exon-intron boundary.; Evidence={ECO:0000305}; Sequence=BAD92709.1; Type=Miscellaneous discrepancy; Note=Intron retention. Includes intronic sequence at the 5' end.; Evidence={ECO:0000305};
SimilarityBelongs to the proline oxidase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
Tissue SpecificityExpressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.
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