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Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000285 Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_000285.3, 260593661
Length 2019 bp
Structure linear
Update Date 17-APR-2013
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.[provided by RefSeq, Oct 2009].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

RefSeq NP_000276.2
CDS 134..1615
Misc Feature(1)113..115
Misc Feature(2)113..115
Misc Feature(3)185..541
Misc Feature(4)185..541
Misc Feature(5)212..1576
Misc Feature(6)707..1534
Misc Feature(7)order(896..898,959..961,992..994,1241..1243,1367..1369,
Exon (1)1..150
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (2)151..334
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (3)335..462
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (4)463..526
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (5)527..574
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (6)575..636
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (7)637..681
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (8)682..757
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (9)758..804
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (10)805..873
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (11)874..951
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (12)952..1100
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (13)1101..1285
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (14)1286..1477
Gene:PEPD
Gene Synonym:PROLIDASE
Exon (15)1478..2010
Gene:PEPD
Gene Synonym:PROLIDASE
Translation MAAATGPSFWLGNETLKVPLALFALNRQRLCERLRKNPAVQAGSIVVLQGGEETQRYCTD TGVLFRQESFFHWAFGVTEPGCYGVIDVDTGKSTLFVPRLPASHATWMGKIHSKEHFKEK YAVDDVQYVDEIASVLTSQKPSVLLTLRGVNTDSGSVCREASFDGISKFEVNNTILHPEI VECRVFKTDMELEVLRYTNKISSEAHREVMKAVKVGMKEYELESLFEHYCYSRGGMRHSS YTCICGSGENSAVLHYGHAGAPNDRTIQNGDMCLFDMGGEYYCFASDITCSFPANGKFTA DQKAVYEAVLRSSRAVMGAMKPGVWWPDMHRLADRIHLEELAHMGILSGSVDAMVQAHLG AVFMPHGLGHFLGIDVHDVGGYPEGVERIDEPGLRSLRTARHLQPGMVLTVEPGIYFIDH LLDEALADPARASFLNREVLQRFRGFGGVRIEEDVVVTDSGIELLTCVPRTVEEIEACMA GCDKAFTPFSGPK
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Position Chain Variation Link
complement(167)-dbSNP:
complement(167)-t, cdbSNP:201992066
complement(168..169)-, cdbSNP:35641847
complement(195)-g, adbSNP:199711203
complement(230)-g, adbSNP:61734503
complement(231)-t, cdbSNP:187269138
complement(236)-g, adbSNP:185183225
complement(237)-t, cdbSNP:200435937
complement(285)-t, cdbSNP:199892951
complement(319..320)-, cdbSNP:34004641
complement(347)-dbSNP:
complement(347)-g, cdbSNP:201752816
complement(355)-t, cdbSNP:200108299
complement(366)-g, cdbSNP:186203899
complement(392)-t, cdbSNP:201865747
complement(416)-g, adbSNP:202186183
complement(499)-dbSNP:
complement(499)-t, gdbSNP:201145610
complement(543)-dbSNP:
complement(543)-g, adbSNP:188930796
complement(575)-dbSNP:
complement(575)-g, adbSNP:61734505
complement(589)-t, cdbSNP:200011486
complement(621..622)-, adbSNP:35524700
complement(633)-t, cdbSNP:61734506
complement(642)-dbSNP:
complement(642)-t, adbSNP:61748998
complement(684)-dbSNP:
complement(684)-g, adbSNP:121917722
complement(696)-g, adbSNP:141623136
complement(699)-t, cdbSNP:151278946
738+c, tdbSNP:267606943
complement(793)-dbSNP:
complement(793)-g, adbSNP:3745969
complement(836)-dbSNP:
complement(836)-t, cdbSNP:200871513
complement(868)-g, adbSNP:199612179
complement(877)-dbSNP:
complement(877)-g, adbSNP:74988985
complement(884)-t, adbSNP:201572375
complement(886)-t, adbSNP:190681033
complement(890)-t, cdbSNP:200450538
complement(901)-g, adbSNP:149406115
complement(926)-t, cdbSNP:121917725
complement(927..928)-, adbSNP:35226114
complement(927)-t, cdbSNP:200351927
complement(943)-t, cdbSNP:79755990
complement(947)-t, cdbSNP:199794147
complement(959)-dbSNP:
complement(959)-g, adbSNP:121917721
complement(966)-g, adbSNP:121917723
complement(992)-t, cdbSNP:201584435
complement(996)-g, adbSNP:139214756
complement(1045..1046)-, gccdbSNP:185359328
complement(1045)-g, adbSNP:199621901
complement(1046)-t, cdbSNP:200931112
complement(1065)-t, gdbSNP:1063319
complement(1074)-t, cdbSNP:201447445
complement(1104)-dbSNP:
complement(1104)-t, adbSNP:1140312
complement(1212)-t, cdbSNP:201089253
complement(1216)-g, adbSNP:201975796
complement(1227)-g, adbSNP:200183031
complement(1231)-g, adbSNP:149579451
complement(1264)-t, g, cdbSNP:17569
complement(1296)-dbSNP:
complement(1296)-g, adbSNP:2230062
1367+a, gdbSNP:267606944
complement(1389)-t, cdbSNP:142070498
complement(1414)-t, cdbSNP:183038027
complement(1427)-t, cdbSNP:149042427
complement(1436)-t, cdbSNP:17570
complement(1462)-t, cdbSNP:2230063
complement(1475)-g, adbSNP:121917724
complement(1499)-dbSNP:
complement(1499)-t, cdbSNP:189549581
complement(1507)-c, adbSNP:199999333
complement(1518)-g, adbSNP:201222933
complement(1547)-t, cdbSNP:200072143
complement(1575)-c, adbSNP:144944440
complement(1596)-g, cdbSNP:200567073
complement(1667)-t, cdbSNP:1061338
complement(1668)-g, adbSNP:77690463
complement(1742)-g, adbSNP:149914845
complement(1786..1787)-, ttaadbSNP:79486519
complement(1789..1790)-, ttaadbSNP:71723790
complement(1792..1793)-, taatdbSNP:71730836
complement(1793..1794)-, taatdbSNP:16426
complement(1822)-t, g, cdbSNP:1038
complement(1826)-t, cdbSNP:3556
complement(1847)-g, cdbSNP:34742162
complement(1869)-t, cdbSNP:140038783
complement(1942..1946)-, tcagadbSNP:201816618
complement(1946..1947)-, aagtadbSNP:10659604
complement(1950..1951)-, aagtadbSNP:71795604
complement(1951..1952)-, aaagtdbSNP:35012994
complement(1952..1953)-, aaagtdbSNP:140842
complement(1993)-g, cdbSNP:185823037
Gene SymbolPEPD
Gene SynonymPROLIDASE
Chromosome19
Locus Map19q13.11
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000285 Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
NM_001166056 Homo sapiens peptidase D (PEPD), transcript variant 2, mRNA. On-demand $699.00 18
NM_001166057 Homo sapiens peptidase D (PEPD), transcript variant 3, mRNA. On-demand $699.00 18
Title Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency .
Author Pandit,R.A., Chen,C.J., Butt,T.A. and Islam,N.
Journal Gene 516 (2), 316-319 (2013)
Title Prolidase directly binds and activates epidermal growth factor receptor and stimulates downstream signaling .
Author Yang,L., Li,Y., Ding,Y., Choi,K.S., Kazim,A.L. and Zhang,Y.
Journal J. Biol. Chem. 288 (4), 2365-2375 (2013)
Title A Mn(II)-Mn(II) center in human prolidase .
Author Besio,R., Baratto,M.C., Gioia,R., Monzani,E., Nicolis,S., Cucca,L., Profumo,A., Casella,L., Basosi,R., Tenni,R., Rossi,A. and Forlino,A.
Journal Biochim. Biophys. Acta 1834 (1), 197-204 (2013)
Title The decrease in prolidase activity in myeloproliferative neoplasms .
Author Nowicka,J., Nahaczewska,W., Owczarek,H. and Wozniak,M.
Journal Adv Clin Exp Med 21 (6), 767-771 (2012)
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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