RBCC Red Blood Cell Collection

PEPD_HUMAN

Source: hRBCD ; ID: IPI00257882
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: PEPD , PRD
Protein names and data: PEPD_HUMAN , Xaa-Pro dipeptidase; X-Pro dipeptidase; 3.4.13.9 , Imidodipeptidase; Peptidase D; Proline dipeptidase; Prolidase Lenght: 493 a.a.
Mass: 54548 Da
fasta formatted sequence
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.
Disease: ( OMIM: 170100 613230 ) Prolidase deficiency (PD) [MIM:170100]: A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

184 - 184 R -> Q (in PD). VAR_011614
276 - 276 D -> N (in PD). VAR_004404
278 - 278 G -> D (in PD). VAR_011615
388 - 388 R -> H (in dbSNP:rs2230062). VAR_051574 2230062
435 - 435 L -> F (in dbSNP:rs17570). VAR_014723 17570
448 - 448 G -> R (in PD). VAR_004405
452 - 452 Missing (in PD). VAR_004406

Database cross-references

UniProt: P12955
Ensembl: ENST00000244137
Ensembl: ENST00000397032
Ensembl: ENST00000436370
MIM: 170100
MIM: 613230
neXtProt: NX_P12955
Antibodypedia: P12955 (may not find the protein thus also not any antibody)
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