317:
294:
191:
216:
582:
575:
568:
323:
222:
3484:
40:
1284:
and accumulation of the fluorescent pigments. The disease causes childhood onset neurodegeneration resulting in epilepsy, movement disorders and progressive loss of motor and cognitive skills. Additionally, it causes retinal degeneration resulting in progressive loss of vision. Enzyme replacement
66:
1248:. 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 autoproteolyzed upon
2148:
Ezaki J, Takeda-Ezaki M, Oda K, Kominami E (February 2000). "Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis".
2409:
2215:
Ezaki J, Takeda-Ezaki M, Kominami E (September 2000). "Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase".
1636:
Worgall, S.; Kekatpure, M. V.; Heier, L.; Ballon, D.; Dyke, J. P.; Shungu, D.; Mao, X.; Kosofsky, B.; Kaplitt, M. G.; Souweidane, M. M.; Sondhi, D.; Hackett, N. R.; Hollmann, C.; Crystal, R. G. (2007-08-07).
1931:
Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P (September 1997). "Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis".
1725:
Schulz, Angela; Ajayi, Temitayo; Specchio, Nicola; de Los Reyes, Emily; Gissen, Paul; Ballon, Douglas; Dyke, Jonathan P.; Cahan, Heather; Slasor, Peter; Jacoby, David; KohlschĂĽtter, Alfried (2018-05-17).
1264:(NCLs) are a group of inherited neurodegenerative disorders with pathological phenotypes that auto fluorescent lipopigments present in neurons and other cell types. Bi-allelic mutations of the gene
1902:
Page AE, Fuller K, Chambers TJ, Warburton MJ (November 1993). "Purification and characterization of a tripeptidyl peptidase I from human osteoclastomas: evidence for its role in bone resorption".
2402:
1220:
family of peptidases. Unlike other S53 peptidases, it has steric constraints on the P4 substrate pocket, which might contribute to its preferential cleavage of tripeptides from the unsubstituted
2178:
Haines JL, Boustany RM, Alroy J, Auger KJ, Shook KS, Terwedow H, Lerner TJ (March 1998). "Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis".
2395:
2107:"Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis"
1383:
Liu CG, Sleat DE, Donnelly RJ, Lobel P (June 1998). "Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis".
1961:
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".
1841:
Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY (August 2002). "Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)".
330:
229:
2062:
Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P (June 1999).
1200:
of 34.5kDa and 320 amino acids is generated by alternative splicing and a peptide fragment of 1-243 amino acid is missing. TPP1 contains a globular structure with a
1990:
Rawlings ND, Barrett AJ (January 1999). "Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis".
1676:
Spaull, Robert; Soo, Audrey K.; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W.; Carr, Lucinda; Gissen, Paul; Kurian, Manju A. (2024-08-13).
2280:
Lam CW, Poon PM, Tong SF, Ko CH (March 2001). "Two novel CLN2 gene mutations in a
Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis".
2064:"Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder"
850:
831:
152:
1503:
Pal A, Kraetzner R, Gruene T, Grapp M, Schreiber K, Grønborg M, Urlaub H, Becker S, Asif AR, Gärtner J, Sheldrick GM, Steinfeld R (February 2009).
3504:
1365:
1347:
3129:
2759:
1873:, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".
1817:
316:
1057:
3203:
2552:
1787:
1770:
1050:
293:
3114:
1505:"Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis"
1421:
1273:
2547:
2293:
1334:
1313:
1216:
360 catalytic triad. It also contains an octahedrally coordinated Ca-binding site that are characteristic features of the S53
2668:
2660:
1269:
1261:
1144:
215:
190:
3359:
1330:
63:
3045:
2960:
2711:
1435:
3474:
1309:
2978:
2721:
2021:"Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I"
132:
1224:
of proteins. Two alternative conformations of the catalytic Asp276 are associated with the activation status of TPP1.
329:
228:
1436:"ACD ACD, shelterin complex subunit and telomerase recruitment factor [Homo sapiens (human)] - Gene - NCBI"
3344:
3460:
3447:
3434:
3421:
3408:
3395:
3382:
3161:
3077:
3000:
2970:
2952:
2905:
2870:
2798:
2785:
322:
221:
3354:
3308:
3251:
2940:
2776:
895:
140:
3119:
1678:"Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy"
1131:. TPP1 should not be confused with the TPP1 shelterin protein which protects telomeres and is encoded by the
3256:
3109:
2836:
2826:
2752:
876:
2923:
2811:
3277:
3196:
2930:
2831:
2361:
204:
3349:
1276:. Mutations of gene is associated with the failure to degrade specific neuropeptides and a subunit of
3104:
2913:
2574:
2247:"The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH"
1804:
Dawson G, Cho S (April 2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes".
119:
3313:
3063:
3025:
3009:
2522:
2455:
2387:
1638:
3514:
3509:
3246:
3099:
3040:
3030:
3020:
2745:
2646:
2532:
2527:
2502:
2487:
2203:
2136:
2050:
1870:
1829:
1618:
164:
1771:"Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5"
1033:
1012:
986:
965:
3094:
2987:
2447:
2367:
2332:
2297:
2268:
2233:
2195:
2166:
2128:
2093:
2042:
2007:
1978:
1949:
1919:
1890:
1858:
1821:
1792:
1747:
1697:
1658:
1610:
1575:
1536:
1468:
1400:
112:
56:
1677:
1555:
3292:
3287:
3261:
3189:
3144:
3139:
3015:
2460:
2422:
2322:
2289:
2258:
2225:
2187:
2158:
2118:
2083:
2075:
2032:
1999:
1970:
1941:
1911:
1882:
1850:
1813:
1782:
1739:
1705:
1689:
1650:
1602:
1567:
1526:
1516:
1392:
1286:
581:
574:
567:
409:
340:
284:
239:
2356:
3339:
3323:
3236:
3149:
3134:
3089:
2569:
2229:
1531:
1169:
384:
160:
2309:
Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT (2001).
1593:
Gardiner RM (2000). "The molecular genetic basis of the neuronal ceroid lipofuscinoses".
1710:
3488:
3377:
3318:
3170:
2806:
2123:
2106:
2088:
2063:
1654:
2037:
2020:
2003:
1974:
1249:
765:
760:
755:
750:
745:
740:
735:
730:
725:
720:
715:
699:
694:
689:
684:
679:
663:
658:
653:
648:
643:
638:
633:
628:
623:
3498:
3282:
3241:
3081:
2883:
2541:
2497:
2376:
2327:
2310:
1886:
1213:
1209:
610:
2207:
2140:
2054:
1833:
144:
3231:
2789:
2437:
1622:
1556:"New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses"
1277:
402:
181:
1945:
123:, CLN2, LPIC, SCAR7, TPP-1, GIG1, Tripeptidyl peptidase I, tripeptidyl peptidase 1
1693:
1571:
168:
3455:
3390:
3226:
3035:
2982:
2918:
2878:
2737:
2585:
2481:
1992:
Biochimica et
Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology
1727:
1370:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1352:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1289:
can alter this course of disease, and is licensed for use in several countries.
1245:
1233:
1193:
3483:
485:
2593:
2426:
2418:
1221:
1201:
1177:
1132:
301:
198:
148:
1854:
1751:
1701:
1662:
1639:"Neurological deterioration in late infantile neuronal ceroid lipofuscinosis"
1579:
3429:
3403:
2768:
2563:
2511:
1217:
1165:
1136:
795:
545:
423:
368:
355:
267:
254:
156:
2336:
2301:
2272:
2263:
2246:
2237:
2199:
2170:
2162:
2132:
2097:
1915:
1862:
1825:
1796:
1614:
1540:
1521:
1504:
1472:
1396:
1268:
have been found to result in one of these disorders, called late-infantile
2191:
2046:
2011:
1982:
1953:
1923:
1894:
1818:
10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3
1743:
1606:
1404:
1097:
1092:
2772:
2703:
2471:
1486:
1281:
1237:
1081:
940:
921:
2381:
2371:
1788:
10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A
1197:
907:
862:
2294:
10.1002/1096-8628(2001)9999:9999<::AID-AJMG1145>3.0.CO;2-Z
89:
85:
3442:
3212:
2858:
2851:
2846:
2715:
2628:
2623:
2429:
2352:
1241:
1205:
1117:
1065:
817:
17:
2079:
1459:
Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES (Nov 2002). "".
3416:
2893:
2888:
2821:
2816:
2618:
2613:
2608:
2603:
2598:
1173:
780:
776:
2725:
2693:
2688:
2683:
2678:
2517:
2492:
2311:"Heterogeneity of late-infantile neuronal ceroid lipofuscinosis"
1124:
136:
3185:
2741:
2391:
2362:
GeneReviews/NCBI/NIH/UW entry on
Neuronal Ceroid-Lipofuscinoses
590:
39:
1728:"Study of Intraventricular Cerliponase Alfa for CLN2 Disease"
2366:
Overview of all the structural information available in the
3181:
392:
3472:
2355:
online database for peptidases and their inhibitors:
557:
2245:
Lin L, Sohar I, Lackland H, Lobel P (January 2001).
1192:
The human TPP1 is 61kDa in size and composed of 563
3368:
3332:
3301:
3270:
3219:
3160:
3076:
3056:
2999:
2969:
2951:
2904:
2869:
2797:
2784:
2702:
2659:
2639:
2583:
2469:
2445:
2436:
2151:
1026:
1005:
979:
958:
1326:
1324:
1322:
1305:
1303:
1301:
339:
238:
1554:Williams, Ruth E.; Mole, Sara E. (2012-07-10).
1498:
1496:
27:Protein-coding gene in the species Homo sapiens
2105:Junaid MA, Wu G, Pullarkat RK (January 2000).
1331:GRCm38: Ensembl release 89: ENSMUSG00000030894
3197:
2753:
2403:
8:
1422:"Entrez Gene: TPP1 tripeptidyl peptidase I"
1310:GRCh38: Ensembl release 89: ENSG00000166340
3204:
3190:
3182:
2794:
2760:
2746:
2738:
2442:
2410:
2396:
2388:
791:
606:
516:transitional epithelium of urinary bladder
380:
279:
176:
74:
2326:
2262:
2122:
2087:
2036:
1786:
1769:Mole SE, Mitchison HM, Munroe PB (1999).
1709:
1530:
1520:
721:neuromuscular process controlling balance
1416:
1414:
1114:Lysosomal pepstatin-insensitive protease
3479:
2019:Vines DJ, Warburton MJ (January 1999).
1904:Archives of Biochemistry and Biophysics
1297:
751:IRE1-mediated unfolded protein response
1184:, due to the relation to the disease.
29:
2230:10.1093/oxfordjournals.jbchem.a022781
344:
305:
300:
243:
202:
197:
7:
2282:American Journal of Medical Genetics
1232:High expression of TPP1 is found in
3130:Amyloid precursor protein secretase
2251:The Journal of Biological Chemistry
1509:The Journal of Biological Chemistry
438:dorsal motor nucleus of vagus nerve
2124:10.1046/j.1471-4159.2000.0740287.x
2068:American Journal of Human Genetics
1655:10.1212/01.wnl.0000267885.47092.40
1023:
1002:
976:
955:
931:
912:
886:
867:
841:
822:
746:central nervous system development
659:serine-type endopeptidase activity
562:
496:choroid plexus of fourth ventricle
480:
418:
397:
25:
2553:Sphingomyelin phosphodiesterase 1
2380:(Tripeptidyl-peptidase 1) at the
1120:that in humans is encoded by the
3482:
3115:Proteasome endopeptidase complex
2328:10.1097/00125817-200011000-00002
1806:Journal of Neuroscience Research
1180:band 11p15. It is also known as
580:
573:
566:
328:
321:
315:
292:
227:
220:
214:
189:
38:
2548:Sphingomyelin phosphodiesterase
1732:New England Journal of Medicine
716:epithelial cell differentiation
2669:Palmitoyl protein thioesterase
1532:11858/00-001M-0000-0012-D8E3-A
1487:"Uniprot: O14773 - TPP1_HUMAN"
1272:, also known as CLN type 2 or
1270:neuronal ceroid lipofuscinosis
1262:neuronal ceroid lipofuscinoses
1145:neuronal ceroid lipofuscinosis
654:serine-type peptidase activity
624:tripeptidyl-peptidase activity
591:More reference expression data
546:More reference expression data
1:
2979:Serine type carboxypeptidases
2961:Angiotensin-converting enzyme
2712:Serine C-palmitoyltransferase
2038:10.1016/S0014-5793(98)01683-4
2004:10.1016/S0167-4838(98)00238-6
1975:10.1016/S0378-1119(97)00411-3
1946:10.1126/science.277.5333.1802
1143:gene leads to late-infantile
313:
212:
3505:Genes on human chromosome 11
2722:Ceramide glucosyltransferase
1887:10.1016/0378-1119(94)90802-8
1694:10.1212/WNL.0000000000209615
1572:10.1212/WNL.0b013e31825f0547
1461:Voprosy Meditsinskoi Khimii
1274:Jansky–Bielschowsky disease
458:stromal cell of endometrium
3531:
1843:Current Molecular Medicine
736:nervous system development
512:retinal pigment epithelium
434:retinal pigment epithelium
3360:Michaelis–Menten kinetics
2111:Journal of Neurochemistry
1366:"Mouse PubMed Reference:"
1348:"Human PubMed Reference:"
1096:
1091:
1087:
1080:
1064:
1045:
1030:
1009:
998:
983:
962:
951:
938:
934:
919:
915:
906:
893:
889:
874:
870:
861:
848:
844:
829:
825:
816:
801:
794:
790:
774:
766:peptide catabolic process
756:protein catabolic process
609:
605:
588:
565:
556:
543:
492:
483:
430:
421:
391:
383:
379:
362:
349:
312:
291:
282:
278:
261:
248:
211:
188:
179:
175:
130:
127:
117:
110:
105:
82:
77:
60:
55:
50:
46:
37:
32:
3252:Diffusion-limited enzyme
2941:Tripeptidyl peptidase II
1855:10.2174/1566524023362294
1172:. The human gene has 13
1164:encodes a member of the
1058:Chr 7: 105.39 – 105.4 Mb
442:inferior olivary nucleus
3110:Threonine endopeptidase
2936:Tripeptidyl peptidase I
2674:Tripeptidyl peptidase I
2218:Journal of Biochemistry
1170:serine protease enzymes
1110:Tripeptidyl-peptidase 1
3100:Aspartic acid protease
2924:Dipeptidyl peptidase-4
2264:10.1074/jbc.M008562200
2163:10.1006/bbrc.2000.2207
1916:10.1006/abbi.1993.1523
1522:10.1074/jbc.M806947200
1397:10.1006/geno.1998.5328
1051:Chr 11: 6.61 – 6.62 Mb
634:endopeptidase activity
3345:Eadie–Hofstee diagram
3278:Allosteric regulation
2931:Tripeptidyl peptidase
2192:10.1007/s100480050032
1744:10.1056/NEJMoa1712649
1607:10.1007/s100720070035
1595:Neurological Sciences
1256:Clinical significance
761:lysosome organization
700:extracellular exosome
504:stroma of bone marrow
205:Chromosome 11 (human)
3355:Lineweaver–Burk plot
3105:Metalloendopeptidase
3010:Metalloexopeptidases
2914:Dipeptidyl peptidase
2575:Galactosylceramidase
2315:Genetics in Medicine
1440:www.ncbi.nlm.nih.gov
446:right adrenal cortex
346:7 E3|7 55.97 cM
307:Chromosome 7 (mouse)
78:List of PDB id codes
51:Available structures
3120:HslU—HslV peptidase
3064:Metalloexopeptidase
2523:Alpha-galactosidase
2456:Glycosyltransferase
1176:and locates at the
450:germinal epithelium
3314:Enzyme superfamily
3247:Enzyme promiscuity
2704:Ceramide synthesis
2647:Sphingosine kinase
2533:Glucocerebrosidase
2528:Beta-galactosidase
2503:Glucocerebrosidase
2488:Beta-galactosidase
1601:(3 Suppl): S15–9.
896:ENSMUSG00000030894
709:Biological process
673:Cellular component
664:hydrolase activity
644:peptidase activity
617:Molecular function
508:tibiofemoral joint
462:left adrenal gland
3470:
3469:
3179:
3178:
3128:Other/ungrouped:
3095:Cysteine protease
3072:
3071:
2990:
2735:
2734:
2655:
2654:
2448:glycosphingolipid
1738:(20): 1898–1907.
1107:
1106:
1103:
1102:
1076:
1075:
1041:
1040:
1020:
1019:
994:
993:
973:
972:
947:
946:
928:
927:
902:
901:
883:
882:
857:
856:
838:
837:
786:
785:
639:metal ion binding
601:
600:
597:
596:
552:
551:
539:
538:
477:
476:
375:
374:
274:
273:
101:
100:
97:
96:
61:Ortholog search:
16:(Redirected from
3522:
3487:
3486:
3478:
3350:Hanes–Woolf plot
3293:Enzyme activator
3288:Enzyme inhibitor
3262:Enzyme catalysis
3206:
3199:
3192:
3183:
3145:Beta-secretase 2
3140:Beta-secretase 1
3016:Carboxypeptidase
3012:
2988:
2795:
2762:
2755:
2748:
2739:
2566:
2544:
2518:Hexosaminidase B
2514:
2493:Hexosaminidase A
2484:
2461:Sulfotransferase
2443:
2423:lipid metabolism
2412:
2405:
2398:
2389:
2340:
2330:
2305:
2276:
2266:
2241:
2211:
2174:
2144:
2126:
2101:
2091:
2058:
2040:
2015:
1986:
1957:
1940:(5333): 1802–5.
1927:
1898:
1866:
1837:
1800:
1790:
1756:
1755:
1722:
1716:
1715:
1713:
1673:
1667:
1666:
1633:
1627:
1626:
1590:
1584:
1583:
1551:
1545:
1544:
1534:
1524:
1500:
1491:
1490:
1483:
1477:
1476:
1456:
1450:
1449:
1447:
1446:
1432:
1426:
1425:
1418:
1409:
1408:
1380:
1374:
1373:
1362:
1356:
1355:
1344:
1338:
1328:
1317:
1307:
1287:cerliponase alfa
1127:, also known as
1112:, also known as
1089:
1088:
1060:
1053:
1036:
1024:
1015:
1003:
999:RefSeq (protein)
989:
977:
968:
956:
932:
913:
887:
868:
842:
823:
792:
726:lipid metabolism
607:
593:
584:
577:
570:
563:
548:
488:
486:Top expressed in
481:
426:
424:Top expressed in
419:
398:
381:
371:
358:
347:
332:
325:
319:
308:
296:
280:
270:
257:
246:
231:
224:
218:
207:
193:
177:
171:
169:TPP1 - orthologs
122:
115:
92:
75:
69:
48:
47:
42:
30:
21:
3530:
3529:
3525:
3524:
3523:
3521:
3520:
3519:
3495:
3494:
3493:
3481:
3473:
3471:
3466:
3378:Oxidoreductases
3364:
3340:Enzyme kinetics
3328:
3324:List of enzymes
3297:
3266:
3237:Catalytic triad
3215:
3210:
3180:
3175:
3156:
3150:Gamma secretase
3135:Alpha secretase
3090:Serine protease
3068:
3057:Other/ungrouped
3052:
3008:
2995:
2991:-Transpeptidase
2965:
2947:
2900:
2865:
2780:
2766:
2736:
2731:
2698:
2651:
2635:
2579:
2570:Arylsulfatase A
2561:
2539:
2509:
2479:
2465:
2432:
2416:
2348:
2343:
2308:
2279:
2244:
2214:
2177:
2147:
2104:
2061:
2018:
1989:
1969:(1–2): 149–56.
1960:
1930:
1901:
1869:
1840:
1803:
1768:
1764:
1762:Further reading
1759:
1724:
1723:
1719:
1675:
1674:
1670:
1635:
1634:
1630:
1592:
1591:
1587:
1553:
1552:
1548:
1502:
1501:
1494:
1485:
1484:
1480:
1458:
1457:
1453:
1444:
1442:
1434:
1433:
1429:
1420:
1419:
1412:
1382:
1381:
1377:
1364:
1363:
1359:
1346:
1345:
1341:
1329:
1320:
1308:
1299:
1295:
1258:
1230:
1190:
1160:The human gene
1158:
1153:
1098:View/Edit Mouse
1093:View/Edit Human
1056:
1049:
1046:Location (UCSC)
1032:
1011:
985:
964:
877:ENSG00000166340
770:
731:bone resorption
704:
685:lysosomal lumen
668:
649:protein binding
629:peptide binding
589:
579:
578:
572:
571:
544:
535:
530:
526:
522:
518:
514:
510:
506:
502:
498:
484:
473:
470:parietal pleura
468:
464:
460:
456:
454:visceral pleura
452:
448:
444:
440:
436:
422:
366:
353:
345:
335:
334:
333:
326:
306:
283:Gene location (
265:
252:
244:
234:
233:
232:
225:
203:
180:Gene location (
131:
118:
111:
84:
62:
28:
23:
22:
15:
12:
11:
5:
3528:
3526:
3518:
3517:
3512:
3507:
3497:
3496:
3492:
3491:
3468:
3467:
3465:
3464:
3451:
3438:
3425:
3412:
3399:
3386:
3372:
3370:
3366:
3365:
3363:
3362:
3357:
3352:
3347:
3342:
3336:
3334:
3330:
3329:
3327:
3326:
3321:
3316:
3311:
3305:
3303:
3302:Classification
3299:
3298:
3296:
3295:
3290:
3285:
3280:
3274:
3272:
3268:
3267:
3265:
3264:
3259:
3254:
3249:
3244:
3239:
3234:
3229:
3223:
3221:
3217:
3216:
3211:
3209:
3208:
3201:
3194:
3186:
3177:
3176:
3174:
3173:
3171:Staphylokinase
3167:
3165:
3158:
3157:
3155:
3154:
3153:
3152:
3147:
3142:
3137:
3125:
3124:
3123:
3122:
3117:
3107:
3102:
3097:
3092:
3086:
3084:
3074:
3073:
3070:
3069:
3067:
3066:
3060:
3058:
3054:
3053:
3051:
3050:
3049:
3048:
3043:
3038:
3033:
3028:
3023:
3013:
3005:
3003:
2997:
2996:
2994:
2993:
2985:
2975:
2973:
2967:
2966:
2964:
2963:
2957:
2955:
2949:
2948:
2946:
2945:
2944:
2943:
2938:
2928:
2927:
2926:
2921:
2910:
2908:
2902:
2901:
2899:
2898:
2897:
2896:
2891:
2886:
2875:
2873:
2867:
2866:
2864:
2863:
2862:
2861:
2856:
2855:
2854:
2849:
2839:
2834:
2829:
2824:
2819:
2814:
2807:Aminopeptidase
2803:
2801:
2792:
2782:
2781:
2767:
2765:
2764:
2757:
2750:
2742:
2733:
2732:
2730:
2729:
2719:
2708:
2706:
2700:
2699:
2697:
2696:
2691:
2686:
2681:
2676:
2671:
2665:
2663:
2657:
2656:
2653:
2652:
2650:
2649:
2643:
2641:
2637:
2636:
2634:
2633:
2632:
2631:
2626:
2621:
2616:
2611:
2606:
2601:
2590:
2588:
2581:
2580:
2578:
2577:
2572:
2567:
2558:
2557:
2556:
2555:
2545:
2536:
2535:
2530:
2525:
2520:
2515:
2506:
2505:
2500:
2495:
2490:
2485:
2476:
2474:
2467:
2466:
2464:
2463:
2458:
2452:
2450:
2440:
2434:
2433:
2417:
2415:
2414:
2407:
2400:
2392:
2386:
2385:
2364:
2359:
2347:
2346:External links
2344:
2342:
2341:
2306:
2277:
2257:(3): 2249–55.
2242:
2212:
2175:
2145:
2102:
2080:10.1086/302427
2074:(6): 1511–23.
2059:
2016:
1998:(2): 496–500.
1987:
1958:
1928:
1899:
1881:(1–2): 171–4.
1867:
1838:
1801:
1781:(3): 199–215.
1775:Human Mutation
1765:
1763:
1760:
1758:
1757:
1717:
1668:
1649:(6): 521–535.
1628:
1585:
1566:(2): 183–191.
1546:
1515:(6): 3976–84.
1492:
1478:
1451:
1427:
1410:
1375:
1357:
1339:
1318:
1296:
1294:
1291:
1257:
1254:
1229:
1226:
1204:-like fold, a
1189:
1186:
1157:
1154:
1152:
1149:
1105:
1104:
1101:
1100:
1095:
1085:
1084:
1078:
1077:
1074:
1073:
1071:
1069:
1062:
1061:
1054:
1047:
1043:
1042:
1039:
1038:
1028:
1027:
1021:
1018:
1017:
1007:
1006:
1000:
996:
995:
992:
991:
981:
980:
974:
971:
970:
960:
959:
953:
949:
948:
945:
944:
936:
935:
929:
926:
925:
917:
916:
910:
904:
903:
900:
899:
891:
890:
884:
881:
880:
872:
871:
865:
859:
858:
855:
854:
846:
845:
839:
836:
835:
827:
826:
820:
814:
813:
808:
803:
799:
798:
788:
787:
784:
783:
772:
771:
769:
768:
763:
758:
753:
748:
743:
738:
733:
728:
723:
718:
712:
710:
706:
705:
703:
702:
697:
692:
687:
682:
676:
674:
670:
669:
667:
666:
661:
656:
651:
646:
641:
636:
631:
626:
620:
618:
614:
613:
603:
602:
599:
598:
595:
594:
586:
585:
560:
554:
553:
550:
549:
541:
540:
537:
536:
534:
533:
529:
525:
521:
517:
513:
509:
505:
501:
497:
493:
490:
489:
478:
475:
474:
472:
471:
467:
463:
459:
455:
451:
447:
443:
439:
435:
431:
428:
427:
415:
414:
406:
395:
389:
388:
385:RNA expression
377:
376:
373:
372:
364:
360:
359:
351:
348:
343:
337:
336:
327:
320:
314:
310:
309:
304:
298:
297:
289:
288:
276:
275:
272:
271:
263:
259:
258:
250:
247:
242:
236:
235:
226:
219:
213:
209:
208:
201:
195:
194:
186:
185:
173:
172:
129:
125:
124:
116:
108:
107:
103:
102:
99:
98:
95:
94:
80:
79:
71:
70:
59:
53:
52:
44:
43:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3527:
3516:
3513:
3511:
3508:
3506:
3503:
3502:
3500:
3490:
3485:
3480:
3476:
3462:
3458:
3457:
3452:
3449:
3445:
3444:
3439:
3436:
3432:
3431:
3426:
3423:
3419:
3418:
3413:
3410:
3406:
3405:
3400:
3397:
3393:
3392:
3387:
3384:
3380:
3379:
3374:
3373:
3371:
3367:
3361:
3358:
3356:
3353:
3351:
3348:
3346:
3343:
3341:
3338:
3337:
3335:
3331:
3325:
3322:
3320:
3319:Enzyme family
3317:
3315:
3312:
3310:
3307:
3306:
3304:
3300:
3294:
3291:
3289:
3286:
3284:
3283:Cooperativity
3281:
3279:
3276:
3275:
3273:
3269:
3263:
3260:
3258:
3255:
3253:
3250:
3248:
3245:
3243:
3242:Oxyanion hole
3240:
3238:
3235:
3233:
3230:
3228:
3225:
3224:
3222:
3218:
3214:
3207:
3202:
3200:
3195:
3193:
3188:
3187:
3184:
3172:
3169:
3168:
3166:
3163:
3159:
3151:
3148:
3146:
3143:
3141:
3138:
3136:
3133:
3132:
3131:
3127:
3126:
3121:
3118:
3116:
3113:
3112:
3111:
3108:
3106:
3103:
3101:
3098:
3096:
3093:
3091:
3088:
3087:
3085:
3083:
3082:Endopeptidase
3079:
3075:
3065:
3062:
3061:
3059:
3055:
3047:
3044:
3042:
3039:
3037:
3034:
3032:
3029:
3027:
3024:
3022:
3019:
3018:
3017:
3014:
3011:
3007:
3006:
3004:
3002:
2998:
2992:
2986:
2984:
2980:
2977:
2976:
2974:
2972:
2968:
2962:
2959:
2958:
2956:
2954:
2950:
2942:
2939:
2937:
2934:
2933:
2932:
2929:
2925:
2922:
2920:
2917:
2916:
2915:
2912:
2911:
2909:
2907:
2903:
2895:
2892:
2890:
2887:
2885:
2882:
2881:
2880:
2877:
2876:
2874:
2872:
2868:
2860:
2857:
2853:
2850:
2848:
2845:
2844:
2843:
2840:
2838:
2835:
2833:
2830:
2828:
2825:
2823:
2820:
2818:
2815:
2813:
2810:
2809:
2808:
2805:
2804:
2802:
2800:
2796:
2793:
2791:
2787:
2783:
2778:
2774:
2770:
2763:
2758:
2756:
2751:
2749:
2744:
2743:
2740:
2727:
2723:
2720:
2717:
2713:
2710:
2709:
2707:
2705:
2701:
2695:
2692:
2690:
2687:
2685:
2682:
2680:
2677:
2675:
2672:
2670:
2667:
2666:
2664:
2662:
2658:
2648:
2645:
2644:
2642:
2638:
2630:
2627:
2625:
2622:
2620:
2617:
2615:
2612:
2610:
2607:
2605:
2602:
2600:
2597:
2596:
2595:
2592:
2591:
2589:
2587:
2582:
2576:
2573:
2571:
2568:
2565:
2560:
2559:
2554:
2551:
2550:
2549:
2546:
2543:
2542:sphingomyelin
2538:
2537:
2534:
2531:
2529:
2526:
2524:
2521:
2519:
2516:
2513:
2508:
2507:
2504:
2501:
2499:
2498:Neuraminidase
2496:
2494:
2491:
2489:
2486:
2483:
2478:
2477:
2475:
2473:
2468:
2462:
2459:
2457:
2454:
2453:
2451:
2449:
2444:
2441:
2439:
2435:
2431:
2428:
2424:
2420:
2413:
2408:
2406:
2401:
2399:
2394:
2393:
2390:
2383:
2379:
2378:
2373:
2369:
2365:
2363:
2360:
2358:
2354:
2350:
2349:
2345:
2338:
2334:
2329:
2324:
2320:
2316:
2312:
2307:
2303:
2299:
2295:
2291:
2287:
2283:
2278:
2274:
2270:
2265:
2260:
2256:
2252:
2248:
2243:
2239:
2235:
2231:
2227:
2224:(3): 509–16.
2223:
2219:
2213:
2209:
2205:
2201:
2197:
2193:
2189:
2186:(3): 217–22.
2185:
2181:
2180:Neurogenetics
2176:
2172:
2168:
2164:
2160:
2156:
2152:
2146:
2142:
2138:
2134:
2130:
2125:
2120:
2117:(1): 287–94.
2116:
2112:
2108:
2103:
2099:
2095:
2090:
2085:
2081:
2077:
2073:
2069:
2065:
2060:
2056:
2052:
2048:
2044:
2039:
2034:
2030:
2026:
2022:
2017:
2013:
2009:
2005:
2001:
1997:
1993:
1988:
1984:
1980:
1976:
1972:
1968:
1964:
1959:
1955:
1951:
1947:
1943:
1939:
1935:
1929:
1925:
1921:
1917:
1913:
1909:
1905:
1900:
1896:
1892:
1888:
1884:
1880:
1876:
1872:
1868:
1864:
1860:
1856:
1852:
1849:(5): 423–37.
1848:
1844:
1839:
1835:
1831:
1827:
1823:
1819:
1815:
1812:(2): 133–40.
1811:
1807:
1802:
1798:
1794:
1789:
1784:
1780:
1776:
1772:
1767:
1766:
1761:
1753:
1749:
1745:
1741:
1737:
1733:
1729:
1721:
1718:
1712:
1707:
1703:
1699:
1695:
1691:
1687:
1683:
1679:
1672:
1669:
1664:
1660:
1656:
1652:
1648:
1644:
1640:
1632:
1629:
1624:
1620:
1616:
1612:
1608:
1604:
1600:
1596:
1589:
1586:
1581:
1577:
1573:
1569:
1565:
1561:
1557:
1550:
1547:
1542:
1538:
1533:
1528:
1523:
1518:
1514:
1510:
1506:
1499:
1497:
1493:
1488:
1482:
1479:
1474:
1470:
1466:
1462:
1455:
1452:
1441:
1437:
1431:
1428:
1423:
1417:
1415:
1411:
1406:
1402:
1398:
1394:
1391:(2): 206–12.
1390:
1386:
1379:
1376:
1371:
1367:
1361:
1358:
1353:
1349:
1343:
1340:
1336:
1332:
1327:
1325:
1323:
1319:
1315:
1311:
1306:
1304:
1302:
1298:
1292:
1290:
1288:
1285:therapy with
1283:
1279:
1275:
1271:
1267:
1263:
1255:
1253:
1251:
1250:acidification
1247:
1243:
1239:
1235:
1227:
1225:
1223:
1219:
1215:
1211:
1207:
1203:
1199:
1195:
1187:
1185:
1183:
1179:
1175:
1171:
1167:
1163:
1155:
1150:
1148:
1146:
1142:
1138:
1134:
1130:
1126:
1123:
1119:
1115:
1111:
1099:
1094:
1090:
1086:
1083:
1079:
1072:
1070:
1067:
1063:
1059:
1055:
1052:
1048:
1044:
1037:
1035:
1029:
1025:
1022:
1016:
1014:
1008:
1004:
1001:
997:
990:
988:
982:
978:
975:
969:
967:
961:
957:
954:
952:RefSeq (mRNA)
950:
943:
942:
937:
933:
930:
924:
923:
918:
914:
911:
909:
905:
898:
897:
892:
888:
885:
879:
878:
873:
869:
866:
864:
860:
853:
852:
847:
843:
840:
834:
833:
828:
824:
821:
819:
815:
812:
809:
807:
804:
800:
797:
793:
789:
782:
778:
773:
767:
764:
762:
759:
757:
754:
752:
749:
747:
744:
742:
739:
737:
734:
732:
729:
727:
724:
722:
719:
717:
714:
713:
711:
708:
707:
701:
698:
696:
693:
691:
690:mitochondrion
688:
686:
683:
681:
678:
677:
675:
672:
671:
665:
662:
660:
657:
655:
652:
650:
647:
645:
642:
640:
637:
635:
632:
630:
627:
625:
622:
621:
619:
616:
615:
612:
611:Gene ontology
608:
604:
592:
587:
583:
576:
569:
564:
561:
559:
555:
547:
542:
531:
527:
523:
519:
515:
511:
507:
503:
499:
495:
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487:
482:
479:
469:
465:
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453:
449:
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437:
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429:
425:
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404:
400:
399:
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394:
390:
386:
382:
378:
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365:
361:
357:
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342:
338:
331:
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318:
311:
303:
299:
295:
290:
286:
281:
277:
269:
264:
260:
256:
251:
241:
237:
230:
223:
217:
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196:
192:
187:
183:
178:
174:
170:
166:
162:
158:
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150:
146:
142:
138:
134:
126:
121:
114:
109:
104:
93:
91:
87:
81:
76:
73:
72:
68:
65:
58:
54:
49:
45:
41:
36:
31:
19:
3456:Translocases
3453:
3440:
3427:
3414:
3401:
3391:Transferases
3388:
3375:
3232:Binding site
3046:Glutamate II
2935:
2841:
2790:Exopeptidase
2673:
2438:Sphingolipid
2375:
2321:(6): 312–8.
2318:
2314:
2288:(2): 161–3.
2285:
2281:
2254:
2250:
2221:
2217:
2183:
2179:
2157:(3): 904–8.
2154:
2150:
2114:
2110:
2071:
2067:
2031:(2): 131–5.
2028:
2025:FEBS Letters
2024:
1995:
1991:
1966:
1962:
1937:
1933:
1910:(2): 354–9.
1907:
1903:
1878:
1874:
1846:
1842:
1809:
1805:
1778:
1774:
1735:
1731:
1720:
1685:
1681:
1671:
1646:
1642:
1631:
1598:
1594:
1588:
1563:
1559:
1549:
1512:
1508:
1481:
1467:(6): 594–8.
1464:
1460:
1454:
1443:. Retrieved
1439:
1430:
1388:
1384:
1378:
1369:
1360:
1351:
1342:
1278:ATP synthase
1265:
1259:
1231:
1191:
1181:
1161:
1159:
1140:
1128:
1121:
1113:
1109:
1108:
1031:
1010:
984:
963:
939:
920:
894:
875:
849:
830:
810:
805:
528:ciliary body
524:right kidney
408:
401:
367:105,401,442
354:105,394,018
128:External IDs
83:
3227:Active site
2983:Cathepsin A
2919:Cathepsin C
2879:Dipeptidase
2586:sphingosine
2482:ganglioside
1246:lymphocytes
1234:bone marrow
1194:amino acids
741:proteolysis
106:Identifiers
3499:Categories
3430:Isomerases
3404:Hydrolases
3271:Regulation
2594:Ceramidase
2427:glycolipid
2419:Metabolism
1871:Maruyama K
1445:2017-02-03
1337:, May 2017
1316:, May 2017
1293:References
1222:N-terminus
1202:subtilisin
1178:chromosome
1168:family of
680:melanosome
532:right lung
412:(ortholog)
266:6,619,448
253:6,612,768
149:HomoloGene
3515:EC 3.4.14
3510:Proteases
3309:EC number
3164:: Unknown
2842:Methionyl
2773:proteases
2769:Hydrolase
2564:sulfatide
2512:globoside
1752:0028-4793
1702:0028-3878
1682:Neurology
1663:0028-3878
1643:Neurology
1580:0028-3878
1560:Neurology
1218:sedolisin
1166:sedolisin
1151:Structure
1137:Mutations
1034:NP_034036
1013:NP_000382
987:NM_009906
966:NM_000391
796:Orthologs
157:GeneCards
3333:Kinetics
3257:Cofactor
3220:Activity
2837:Glutamyl
2827:Cystinyl
2822:Aspartyl
2472:ceramide
2337:11339651
2302:11241479
2273:11054422
2238:10965052
2208:23303630
2200:10737126
2171:10679303
2141:25342240
2133:10617131
2098:10330339
2055:41696666
1863:12125808
1834:28786470
1826:10740217
1797:10477428
1711:11314953
1615:11073223
1541:19038966
1473:12698559
1385:Genomics
1333:–
1312:–
1282:lysosome
1240:, lung,
1238:placenta
1228:Function
1133:ACD gene
1116:, is an
1082:Wikidata
775:Sources:
695:lysosome
500:calvaria
3489:Biology
3443:Ligases
3213:Enzymes
2817:Arginyl
2812:Alanine
2430:enzymes
2382:PDBe-KB
2372:UniProt
2357:S53.003
2089:1377895
2047:9989590
2012:9989235
1983:9373149
1954:9295267
1934:Science
1924:8215436
1895:8125298
1623:9550598
1405:9653647
1335:Ensembl
1314:Ensembl
1280:in the
1198:isoform
1188:Protein
1139:in the
908:UniProt
863:Ensembl
802:Species
781:QuickGO
520:decidua
387:pattern
245:11p15.4
145:1336194
113:Aliases
3475:Portal
3417:Lyases
3162:3.4.99
3078:3.4.21
3001:3.4.17
2971:3.4.16
2953:3.4.15
2906:3.4.14
2871:3.4.13
2832:Leucyl
2799:3.4.11
2786:3.4.11
2716:SPTLC1
2629:ASAH2C
2624:ASAH2B
2377:O14773
2353:MEROPS
2335:
2300:
2271:
2236:
2206:
2198:
2169:
2139:
2131:
2096:
2086:
2053:
2045:
2010:
1981:
1952:
1922:
1893:
1861:
1832:
1824:
1795:
1750:
1708:
1700:
1661:
1621:
1613:
1578:
1539:
1471:
1403:
1242:pineal
1118:enzyme
1068:search
1066:PubMed
941:O89023
922:O14773
818:Entrez
558:BioGPS
466:spleen
137:607998
3369:Types
3080:-25:
2788:-19:
2640:Other
2619:ASAH2
2614:ASAH1
2609:ACER3
2604:ACER2
2599:ACER1
2562:From
2540:From
2510:From
2480:From
2204:S2CID
2137:S2CID
2051:S2CID
1830:S2CID
1688:(3).
1619:S2CID
1196:. An
1174:exons
851:12751
811:Mouse
806:Human
777:Amigo
410:Mouse
403:Human
350:Start
285:Mouse
249:Start
182:Human
3461:list
3454:EC7
3448:list
3441:EC6
3435:list
3428:EC5
3422:list
3415:EC4
3409:list
3402:EC3
3396:list
3389:EC2
3383:list
3376:EC1
2779:3.4)
2726:UGCG
2694:CLN8
2689:CLN6
2684:CLN5
2679:CLN3
2370:for
2351:The
2333:PMID
2298:PMID
2269:PMID
2234:PMID
2196:PMID
2167:PMID
2129:PMID
2094:PMID
2043:PMID
2008:PMID
1996:1429
1979:PMID
1963:Gene
1950:PMID
1920:PMID
1891:PMID
1875:Gene
1859:PMID
1822:PMID
1793:PMID
1748:ISSN
1698:ISSN
1659:ISSN
1611:PMID
1576:ISSN
1537:PMID
1469:PMID
1401:PMID
1266:TPP1
1260:The
1244:and
1212:272-
1208:475-
1182:CLN2
1162:TPP1
1156:Gene
1141:TPP1
1129:CLN2
1125:gene
1122:TPP1
832:1200
393:Bgee
341:Band
302:Chr.
240:Band
199:Chr.
161:TPP1
133:OMIM
120:TPP1
90:3EE6
86:3EDY
67:RCSB
64:PDBe
33:TPP1
18:TPP1
2661:NCL
2584:To
2470:To
2446:To
2368:PDB
2323:doi
2290:doi
2259:doi
2255:276
2226:doi
2222:128
2188:doi
2159:doi
2155:268
2119:doi
2084:PMC
2076:doi
2033:doi
2029:443
2000:doi
1971:doi
1967:200
1942:doi
1938:277
1912:doi
1908:306
1883:doi
1879:138
1851:doi
1814:doi
1783:doi
1740:doi
1736:378
1706:PMC
1690:doi
1686:103
1651:doi
1603:doi
1568:doi
1527:hdl
1517:doi
1513:284
1393:doi
1214:Asp
1210:Glu
1206:Ser
363:End
262:End
165:OMA
153:335
141:MGI
57:PDB
3501::
3026:A2
2989:DD
2981::
2777:EC
2771::
2425:,
2421:,
2374::
2331:.
2317:.
2313:.
2296:.
2286:99
2284:.
2267:.
2253:.
2249:.
2232:.
2220:.
2202:.
2194:.
2182:.
2165:.
2153:.
2135:.
2127:.
2115:74
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2109:.
2092:.
2082:.
2072:64
2070:.
2066:.
2049:.
2041:.
2027:.
2023:.
2006:.
1994:.
1977:.
1965:.
1948:.
1936:.
1918:.
1906:.
1889:.
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1857:.
1845:.
1828:.
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1704:.
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1684:.
1680:.
1657:.
1647:69
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1641:.
1617:.
1609:.
1599:21
1597:.
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1558:.
1535:.
1525:.
1511:.
1507:.
1495:^
1465:48
1463:.
1438:.
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1399:.
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1387:.
1368:.
1350:.
1321:^
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1252:.
1236:,
1147:.
1135:.
779:/
369:bp
356:bp
268:bp
255:bp
163:;
159::
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151::
147:;
143::
139:;
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3459:(
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3446:(
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3433:(
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3407:(
3398:)
3394:(
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3205:e
3198:t
3191:v
3041:E
3036:C
3031:B
3021:A
2894:3
2889:2
2884:1
2859:O
2852:2
2847:1
2775:(
2761:e
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1926:.
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