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Database:

Blast Method:

 
 


Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.


RefSeq Accession Definition Services Price Order
NM_000391 Homo sapiens tripeptidyl peptidase I (TPP1), mRNA. ORF Sequence $490.68
Peptide Services
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Protein Services


RefSeq Version NM_000391.3, 118582287
Length 3540 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.
Product tripeptidyl-peptidase 1 preproprotein
Comment

Summary: This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008].

RefSeq NP_000382.3
CDS 62..1753
Misc Feature(1)30
Misc Feature(2)161..580
Misc Feature(3)order(209..211,215..220,224..226,242..247,254..256,
Misc Feature(4)656..1732
Misc Feature(5)725..727
Misc Feature(6)order(875..877,887..889,1031..1042,1130..1132,1136..1141,
Misc Feature(7)order(875..877,887..889,1484..1486)
Misc Feature(8)order(1610..1615,1676..1678,1688..1690)
Exon (1)1..78
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (2)79..150
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (3)151..290
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (4)291..441
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (5)442..569
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (6)570..748
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (7)749..947
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (8)948..1136
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (9)1137..1206
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (10)1207..1327
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (11)1328..1486
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (12)1487..1612
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Exon (13)1613..3533
Gene:TPP1
Gene Synonym:CLN2; GIG1; LPIC; TPP-1
Translation MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVER LSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFL TCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTS SLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDL AQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEG QEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGD SGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPS YQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPV FGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGP GWDPVTGWGTPNFPALLKTLLNP
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Position Chain Variation Link
complement(22)-dbSNP:
complement(22)-g, adbSNP:200184958
complement(68)-t, gdbSNP:142163063
complement(75)-t, gdbSNP:138976576
complement(103)-dbSNP:
complement(103)-c, adbSNP:35903915
complement(126)-c, adbSNP:202025584
complement(130)-t, cdbSNP:141680923
complement(162)-dbSNP:
complement(162)-t, cdbSNP:138448968
complement(203)-t, gdbSNP:201847207
complement(246)-t, cdbSNP:2734715
complement(274)-g, adbSNP:143730817
complement(290)-g, adbSNP:121908195
complement(317)-dbSNP:
complement(317)-t, cdbSNP:140663603
complement(321)-t, cdbSNP:148064565
complement(354)-g, adbSNP:140726254
complement(355)-t, cdbSNP:141417655
complement(359)-g, adbSNP:201661852
complement(360)-g, adbSNP:1800746
complement(372)-t, adbSNP:202189057
complement(380)-t, cdbSNP:201613668
complement(391)-t, cdbSNP:145853102
complement(397)-t, adbSNP:199539943
complement(441)-g, adbSNP:121908204
complement(496)-dbSNP:
complement(496)-g, adbSNP:188822344
complement(502)-g, adbSNP:2555170
complement(574)-dbSNP:
complement(574)-c, adbSNP:145224171
complement(593)-g, cdbSNP:149986601
complement(603)-g, adbSNP:139059149
complement(614)-t, cdbSNP:34758634
complement(666)-t, cdbSNP:121908205
complement(677)-t, cdbSNP:28940573
complement(678)-g, adbSNP:121908209
complement(683)-t, cdbSNP:119455955
complement(730..731)-, gdbSNP:143313287
complement(837)-dbSNP:
complement(837)-t, cdbSNP:140176031
complement(843)-g, adbSNP:146136938
complement(857)-g, adbSNP:200138397
complement(864)-t, cdbSNP:141920079
complement(868)-g, adbSNP:148222726
complement(890)-g, adbSNP:121908207
complement(901)-g, cdbSNP:140349036
complement(912)-t, gdbSNP:119455957
complement(918)-g, adbSNP:119455958
complement(921)-t, adbSNP:121908196
complement(924)-t, gdbSNP:201561710
complement(978)-dbSNP:
complement(978)-t, adbSNP:201192562
complement(1008)-t, gdbSNP:149463616
complement(1042)-g, adbSNP:137937009
complement(1043)-g, cdbSNP:202086458
complement(1064)-t, cdbSNP:146927291
complement(1088)-g, adbSNP:121908197
complement(1094)-t, gdbSNP:141482368
complement(1105)-t, cdbSNP:35706972
complement(1110)-t, cdbSNP:199866669
complement(1118)-c, adbSNP:121908206
complement(1119)-t, gdbSNP:145966505
complement(1147)-dbSNP:
complement(1147)-t, cdbSNP:140809393
complement(1150)-g, adbSNP:151068181
complement(1154)-t, cdbSNP:119455953
complement(1155)-g, adbSNP:119455954
complement(1178)-g, cdbSNP:112812685
complement(1199)-t, cdbSNP:190013230
complement(1202)-g, adbSNP:200959385
complement(1215)-dbSNP:
complement(1215)-t, adbSNP:121908198
complement(1227)-g, adbSNP:121908199
complement(1252)-g, adbSNP:148950375
complement(1253)-g, adbSNP:149319579
complement(1302)-t, adbSNP:146798796
complement(1313)-g, adbSNP:143584882
complement(1314)-t, cdbSNP:138744051
complement(1327)-g, cdbSNP:121908200
complement(1341..1342)-dbSNP:
complement(1341..1342)-, cdbSNP:34736006
complement(1341)-g, adbSNP:201034755
complement(1368)-g, adbSNP:150039898
complement(1389)-t, cdbSNP:139343938
complement(1396)-g, adbSNP:150872335
complement(1401)-g, adbSNP:119455956
complement(1422)-c, adbSNP:121908201
complement(1423)-t, cdbSNP:141701073
complement(1444)-t, cdbSNP:202190396
complement(1457)-t, cdbSNP:78970155
complement(1478)-g, adbSNP:121908203
complement(1485)-t, cdbSNP:121908202
complement(1505)-dbSNP:
complement(1505)-g, cdbSNP:121908208
complement(1555)-g, adbSNP:117942457
complement(1556)-g, cdbSNP:201126448
complement(1558)-g, adbSNP:142672910
complement(1575)-g, cdbSNP:138941580
complement(1579)-t, cdbSNP:143168932
complement(1587)-t, cdbSNP:149529997
complement(1603)-t, adbSNP:1128396
complement(1675)-dbSNP:
complement(1675)-g, adbSNP:55684773
complement(1691)-t, cdbSNP:121908210
complement(1725)-t, gdbSNP:200880556
complement(1824)-t, cdbSNP:140680586
complement(1893)-t, gdbSNP:2555171
complement(1940)-t, cdbSNP:12289910
complement(1946..1947)-, gdbSNP:34210291
complement(1994)-g, adbSNP:74843914
complement(2005)-g, adbSNP:111594949
complement(2012)-t, cdbSNP:151296958
complement(2065)-g, adbSNP:201122774
complement(2067)-, adbSNP:202155605
complement(2094)-g, adbSNP:142480159
complement(2099)-t, cdbSNP:149218047
complement(2227)-t, adbSNP:145461599
complement(2330)-, adbSNP:34308615
complement(2600..2614)-, aggacttgttgattgdbSNP:146267350
complement(2719)-t, gdbSNP:144157135
complement(2739)-g, cdbSNP:188148381
complement(2781)-t, cdbSNP:1802018
complement(2847)-t, cdbSNP:140414512
complement(2862)-, gadbSNP:58821830
complement(2871)-g, cdbSNP:1045450
complement(2973)-g, cdbSNP:183015906
complement(3003)-t, adbSNP:193029892
complement(3005)-c, adbSNP:1802017
complement(3181)-g, adbSNP:188544089
complement(3230)-t, cdbSNP:147581280
complement(3341)-t, cdbSNP:7487
complement(3381)-g, adbSNP:7488
complement(3440)-g, adbSNP:3185635
complement(3475)-c, adbSNP:1802019
complement(3503)-c, adbSNP:139164847
Gene SymbolTPP1
Gene SynonymCLN2; GIG1; LPIC; TPP-1
Chromosome11
Locus Map11p15
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000391 Homo sapiens tripeptidyl peptidase I (TPP1), mRNA. Full Length $1239.00
ORF Sequence $490.68
Title Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America .
Author Kohan,R., Carabelos,M.N., Xin,W., Sims,K., Guelbert,N., Cismondi,I.A., Pons,P., Alonso,G.I., Troncoso,M., Witting,S., Pearce,D.A., Dodelson de Kremer,R., Oller-Ramirez,A.M. and Noher de Halac,I.
Journal Gene 516 (1), 114-121 (2013)
Title Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor alpha: implications for late infantile Batten disease therapy .
Author Ghosh,A., Corbett,G.T., Gonzalez,F.J. and Pahan,K.
Journal J. Biol. Chem. 287 (46), 38922-38935 (2012)
Title Altered expression of TPP1 in fibroblast-like synovial cells might be involved in the pathogenesis of rheumatoid arthritis .
Author Qing,Y.F., Zhou,J.G., Zhao,M.C., Xie,W.G., Yang,Q.B., Xing,Y., Zeng,S.P. and Jiang,H.
Journal Rheumatol. Int. 32 (8), 2503-2510 (2012)
Title New families of carboxyl peptidases: serine-carboxyl peptidases and glutamic peptidases .
Author Oda,K.
Journal J. Biochem. 151 (1), 13-25 (2012)
Title Human UPF1 interacts with TPP1 and telomerase and sustains telomere leading-strand replication .
Author Chawla,R., Redon,S., Raftopoulou,C., Wischnewski,H., Gagos,S. and Azzalin,C.M.
Journal EMBO J. 30 (19), 4047-4058 (2011)
Title The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH .
Author Lin,L., Sohar,I., Lackland,H. and Lobel,P.
Journal J. Biol. Chem. 276 (3), 2249-2255 (2001)
Title Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis .
Author Rawlings,N.D. and Barrett,A.J.
Journal Biochim. Biophys. Acta 1429 (2), 496-500 (1999)
Title Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis .
Author Liu,C.G., Sleat,D.E., Donnelly,R.J. and Lobel,P.
Journal Genomics 50 (2), 206-212 (1998)
Title Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis .
Author Sleat,D.E., Donnelly,R.J., Lackland,H., Liu,C.G., Sohar,I., Pullarkat,R.K. and Lobel,P.
Journal Science 277 (5333), 1802-1805 (1997)
Title Purification and characterization of a tripeptidyl peptidase I from human osteoclastomas: evidence for its role in bone resorption .
Author Page,A.E., Fuller,K., Chambers,T.J. and Warburton,M.J.
Journal Arch. Biochem. Biophys. 306 (2), 354-359 (1993)

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