PEPD peptidase D [Homo sapiens (human)]
| Gene Symbol | PEPD |
| Entrez Gene ID | 5184 |
| Full Name | peptidase D |
| Synonyms | MGC10905, PROLIDASE |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
19 19q13.11 |
| Summary | This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene. |
| Disorder | MIM: 613230 Prolidase deficiency, 170100 (3) |
| mRNA | NM_000285, 260593661 |
| Protein | NP_000276, 149589008 |
| Product | xaa-Pro dipeptidase isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001166056, 260593662 |
| Protein | NP_001159528, 260593663 |
| Product | xaa-Pro dipeptidase isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001166057, 260593664 |
| Protein | NP_001159529, 260593665 |
| Product | xaa-Pro dipeptidase isoform 3 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | PEPD | NP_000276.2 |
| Canis lupus familiaris (dog) | PEPD | XP_533702.2 |
| Bos taurus (cattle) | PEPD | NP_001073787.1 |
| Mus musculus (house mouse) | Pepd | NP_032846.1 |
| Rattus norvegicus (Norway rat) | Pepd | NP_001009641.1 |
| Gallus gallus (chicken) | PEPD | XP_414138.2 |
| Danio rerio (zebrafish) | pepd | NP_944594.1 |
| Drosophila melanogaster (fruit fly) | Dip-C | NP_650192.1 |
| Caenorhabditis elegans | K12C11.1 | NP_490843.1 |
| Arabidopsis thaliana (thale cress) | AT4G29490 | NP_194678.2 |
| ID | Name | Evidence |
| GO:0006508 | proteolysis | IEA |
| GO:0006520 | cellular amino acid metabolic process | TAS |
| GO:0009987 | cellular process | IEA |
| GO:0030574 | collagen catabolic process | IEA |
Function
| ID | Name | Evidence |
| GO:0004177 | aminopeptidase activity | IEA |
| GO:0004181 | metallocarboxypeptidase activity | TAS |
| GO:0008233 | peptidase activity | IEA |
| GO:0016805 | dipeptidase activity | IEA |
| GO:0030145 | manganese ion binding | IEA |
| GO:0046872 | metal ion binding | IEA |
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