Human Gene PEPD (ENST00000397032.8) from GENCODE V44
Description: Homo sapiens peptidase D (PEPD), transcript variant 2, mRNA. (from RefSeq NM_001166056) RefSeq Summary (NM_001166056): 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.[provided by RefSeq, Oct 2009]. Gencode Transcript: ENST00000397032.8 Gencode Gene: ENSG00000124299.16 Transcript (Including UTRs) Position: hg38 chr19:33,386,980-33,521,791 Size: 134,812 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr19:33,387,344-33,521,760 Size: 134,417 Coding Exon Count: 13
ID:PEPD_HUMAN DESCRIPTION: RecName: Full=Xaa-Pro dipeptidase; Short=X-Pro dipeptidase; EC=3.4.13.9; AltName: Full=Imidodipeptidase; AltName: Full=Peptidase D; AltName: Full=Proline dipeptidase; Short=Prolidase; FUNCTION: Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen. CATALYTIC ACTIVITY: Hydrolysis of Xaa-|-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on Pro-|-Pro. COFACTOR: Binds 2 manganese ions per subunit. SUBUNIT: Homodimer. MASS SPECTROMETRY: Mass=54251.73; Method=MALDI; Range=2-493; Source=PubMed:11840567; DISEASE: Defects in PEPD are a cause of prolidase deficiency (PD) [MIM:170100]. Prolidase deficiency is an autosomal recessive disorder associated with iminodipeptiduria. The clinical phenotype includes skin ulcers, mental retardation, recurrent infections, and a characteristic facies. These features, however are incompletely penetrant and highly variable in both age of onset and severity. There is a tight linkage between the polymorphisms of prolidase and the myotonic dystrophy trait. SIMILARITY: Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily.
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 P12955
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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.