Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.
| RefSeq Version | NM_000285.3, 260593661 |
| Length | 2019 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA. |
| Product | xaa-Pro dipeptidase isoform 1 |
| Comment | 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. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). |
| RefSeq | NP_000276.2 |
| CDS | 134..1615 | Exon (1) | 1..150 | Exon (2) | 1..150 | Exon (3) | 151..334 | Exon (4) | 335..462 | Exon (5) | 463..526 | Exon (6) | 527..574 | Exon (7) | 575..636 | Exon (8) | 637..681 | Exon (9) | 682..757 | Exon (10) | 758..804 | Exon (11) | 805..873 | Exon (12) | 874..951 | Exon (13) | 952..1100 | Exon (14) | 1101..1285 | Exon (15) | 1286..1477 | Exon (16) | 1478..2010 |
| Translation | MAAATGPSFWLGNETLKVPLALFALNRQRLCERLRKNPAVQAGSIVVLQGGEETQRYCTD
TGVLFRQESFFHWAFGVTEPGCYGVIDVDTGKSTLFVPRLPASHATWMGKIHSKEHFKEK
YAVDDVQYVDEIASVLTSQKPSVLLTLRGVNTDSGSVCREASFDGISKFEVNNTILHPEI
VECRVFKTDMELEVLRYTNKISSEAHREVMKAVKVGMKEYELESLFEHYCYSRGGMRHSS
YTCICGSGENSAVLHYGHAGAPNDRTIQNGDMCLFDMGGEYYCFASDITCSFPANGKFTA
DQKAVYEAVLRSSRAVMGAMKPGVWWPDMHRLADRIHLEELAHMGILSGSVDAMVQAHLG
AVFMPHGLGHFLGIDVHDVGGYPEGVERIDEPGLRSLRTARHLQPGMVLTVEPGIYFIDH
LLDEALADPARASFLNREVLQRFRGFGGVRIEEDVVVTDSGIELLTCVPRTVEEIEACMA
GCDKAFTPFSGPK
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| Position | Chain | Variation | Link |
| complement(165..166) | - | , c | dbSNP:35641847 |
| complement(230) | - | g, a | dbSNP:61734503 |
| complement(316..317) | - | , c | dbSNP:34004641 |
| complement(575) | - | g, a | dbSNP:61734505 |
| complement(619..620) | - | , a | dbSNP:35524700 |
| complement(633) | - | t, c | dbSNP:61734506 |
| complement(642) | - | t, a | dbSNP:61748998 |
| complement(793) | - | g, a | dbSNP:3745969 |
| complement(877) | - | g, a | dbSNP:74988985 |
| complement(927..928) | - | , a | dbSNP:35226114 |
| complement(943) | - | t, c | dbSNP:79755990 |
| 1065 | + | g, t | dbSNP:1063319 |
| 1264 | + | c, g | dbSNP:17569 |
| complement(1296) | - | t, c | dbSNP:76199755 |
| 1436 | + | c, t | dbSNP:17570 |
| 1462 | + | c, t | dbSNP:2230063 |
| complement(1477) | - | , largedeletion | dbSNP:71724536 |
| 1667 | + | c, t | dbSNP:1061338 |
| complement(1668) | - | g, a | dbSNP:77690463 |
| complement(1785..1786) | - | , ttaa | dbSNP:71723790 |
| complement(1786..1787) | - | , ttaa | dbSNP:79486519 |
| complement(1792..1793) | - | , taat | dbSNP:71730836 |
| complement(1793..1794) | - | , taat | dbSNP:16426 |
| 1822 | + | c, g, t | dbSNP:1038 |
| 1826 | + | c, t | dbSNP:3556 |
| complement(1847) | - | g, c | dbSNP:34742162 |
| complement(1945..1946) | - | , aagta | dbSNP:71795604 |
| complement(1946..1947) | - | , aagta | dbSNP:10659604 |
| complement(1951..1952) | - | , aaagt | dbSNP:35012994 |
| complement(1952..1953) | - | , aaagt | dbSNP:140842 |
| Gene Symbol | PEPD |
| Gene Synonym | MGC10905; PROLIDASE |
| Chromosome | 19 |
| Locus Map | 19q13.11 |
| All Transcripts | NM_000285 , NM_001166056 , NM_001166057 |
| Title | Prolidase-dependent regulation of TGF beta (corrected) and TGF beta receptor expressions in human skin fibroblasts . |
| Author | Surazynski,A., Miltyk,W., Prokop,I. and Palka,J. |
| Journal | Eur. J. Pharmacol. 649 (1-3), 115-119 (2010) |
| Title | Serum prolidase activity in idiopathic and ischemic cardiomyopathy patients . |
| Author | Sezen,Y., Bas,M., Altiparmak,H., Yildiz,A., Buyukhatipoglu,H., Faruk Dag,O., Kaya,Z. and Aksoy,N. |
| Journal | J. Clin. Lab. Anal. 24 (4), 213-218 (2010) |
| Title | Serum prolidase enzyme activity and its relation to histopathological findings in patients with non-alcoholic steatohepatitis . |
| Author | Horoz,M., Aslan,M., Bolukbas,F.F., Bolukbas,C., Nazligul,Y., Celik,H. and Aksoy,N. |
| Journal | J. Clin. Lab. Anal. 24 (3), 207-211 (2010) |
| Title | Dilatation of the ascending aorta is associated with low serum prolidase activity . |
| Author | Akcakoyun,M., Pala,S., Esen,O., Acar,G., Kargin,R., Emiroglu,Y., Tigen,K., Ozcan,O., Ipcioglu,O.M. and Esen,A.M. |
| Journal | Tohoku J. Exp. Med. 220 (4), 273-277 (2010) |
| Title | Four novel PEPD alleles causing prolidase deficiency . |
| Author | Ledoux,P., Scriver,C. and Hechtman,P. |
| Journal | Am. J. Hum. Genet. 54 (6), 1014-1021 (1994) |
| Title | Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency . |
| Author | Tanoue,A., Endo,F. and Matsuda,I. |
| Journal | J. Biol. Chem. 265 (19), 11306-11311 (1990) |
| Title | A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells . |
| Author | Tanoue,A., Endo,F., Kitano,A. and Matsuda,I. |
| Journal | J. Clin. Invest. 86 (1), 351-355 (1990) |
| Title | Prolidase deficiency: biochemical classification of alleles . |
| Author | Boright,A.P., Scriver,C.R., Lancaster,G.A. and Choy,F. |
| Journal | Am. J. Hum. Genet. 44 (5), 731-740 (1989) |
| Title | Primary structure and gene localization of human prolidase . |
| Author | Endo,F., Tanoue,A., Nakai,H., Hata,A., Indo,Y., Titani,K. and Matsuda,I. |
| Journal | J. Biol. Chem. 264 (8), 4476-4481 (1989) |
| Title | Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q . |
| Author | Friedrich,U., Brunner,H., Smeets,D., Lambermon,E. and Ropers,H.H. |
| Journal | Hum. Genet. 75 (3), 291-293 (1987) |
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