InnateDB Protein
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IDBP-1201.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PRODH
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Protein Name
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proline dehydrogenase (oxidase) 1
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Synonyms
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HSPOX2; PIG6; POX; PRODH1; PRODH2; TP53I6;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000349577
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InnateDB Gene
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IDBG-1197 (PRODH)
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Protein Structure
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Function |
Converts proline to delta-1-pyrroline-5-carboxylate.
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Subcellular Localization |
Mitochondrion matrix.
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Disease Associations |
Hyperprolinemia 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:0000269PubMed:12217952}. Note=The disease is caused by mutations affecting the gene represented in this entry.Schizophrenia 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:0000269PubMed:11891283}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed 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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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002872
Proline dehydrogenase domain
IPR029041
FAD-linked oxidoreductase-like
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PFAM |
PF01619
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O43272
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PhosphoSite |
PhosphoSite-O43272
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TrEMBL |
E7EQL6
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UniProt Splice Variant |
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Entrez Gene |
5625
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UniGene |
Hs.517352
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RefSeq |
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HUGO |
HGNC:9453
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OMIM |
606810
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CCDS |
CCDS13754
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HPRD |
08433
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IMGT |
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EMBL |
AB209472
AC007326
AF010310
AF120278
BC068260
BC094736
BC118597
BC121809
U79754
U82381
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GenPept |
AAB88789
AAC39529
AAD24775
AAF21464
AAH68260
AAH94736
AAI18598
AAI21810
BAD92709
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