PREPL
Summary: The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609557 Ensembl IDEnsembl:ENSG00000138078 HGNC IDHGNC:HGNC:30228 PHARMGKB IDPA142671134 Map Location2p21 | |||||
GO terms in PREPL
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0004252 | serine-type endopeptidase activity |
| MF | IEA | GO:0070008 | serine-type exopeptidase activity |
| BP | IEA | GO:0006508 | proteolysis |
| BP | IMP | GO:2000300 | regulation of synaptic vesicle exocytosis |
| CC | IBA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0005829 | cytosol |
Gene expression in normal tissue: PREPL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PREPL
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PREPL
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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