Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.
| RefSeq Version | NM_006310.3, 158937235 |
| Length | 4364 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA. |
| Product | puromycin-sensitive aminopeptidase |
| Comment | Summary: This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq]. CCDS Note: Experimental evidence (N-terminal protein sequencing; PubMed ID 10978616) shows a peptide starting at Pro-46, suggesting that the downstream ATG (coding for Met-45) is used. |
| RefSeq | NP_006301.3 |
| CDS | 224..2983 | Exon (1) | 1..478 | Exon (2) | 1..478 | Exon (3) | 479..563 | Exon (4) | 564..641 | Exon (5) | 642..763 | Exon (6) | 764..871 | Exon (7) | 872..1072 | Exon (8) | 1073..1169 | Exon (9) | 1170..1203 | Exon (10) | 1204..1318 | Exon (11) | 1319..1483 | Exon (12) | 1484..1588 | Exon (13) | 1589..1649 | Exon (14) | 1650..1759 | Exon (15) | 1760..1823 | Exon (16) | 1824..1963 | Exon (17) | 1964..2098 | Exon (18) | 2099..2318 | Exon (19) | 2319..2461 | Exon (20) | 2462..2518 | Exon (21) | 2519..2626 | Exon (22) | 2627..2782 | Exon (23) | 2783..2830 | Exon (24) | 2831..4339 |
| Translation | MWLAAAAPSLARRLLFLGPPPPPLLLLVFSRSSRRRLHSLGLAAMPEKRPFERLPADVSP
INYSLCLKPDLLDFTFEGKLEAAAQVRQATNQIVMNCADIDIITASYAPEGDEEIHATGF
NYQNEDEKVTLSFPSTLQTGTGTLKIDFVGELNDKMKGFYRSKYTTPSGEVRYAAVTQFE
ATDARRAFPCWDEPAIKATFDISLVVPKDRVALSNMNVIDRKPYPDDENLVEVKFARTPV
MSTYLVAFVVGEYDFVETRSKDGVCVRVYTPVGKAEQGKFALEVAAKTLPFYKDYFNVPY
PLPKIDLIAIADFAAGAMENWGLVTYRETALLIDPKNSCSSSRQWVALVVGHELAHQWFG
NLVTMEWWTHLWLNEGFASWIEYLCVDHCFPEYDIWTQFVSADYTRAQELDALDNSHPIE
VSVGHPSEVDEIFDAISYSKGASVIRMLHDYIGDKDFKKGMNMYLTKFQQKNAATEDLWE
SLENASGKPIAAVMNTWTKQMGFPLIYVEAEQVEDDRLLRLSQKKFCAGGSYVGEDCPQW
MVPITISTSEDPNQAKLKILMDKPEMNVVLKNVKPDQWVKLNLGTVGFYRTQYSSAMLES
LLPGIRDLSLPPVDRLGLQNDLFSLARAGIISTVEVLKVMEAFVNEPNYTVWSDLSCNLG
ILSTLLSHTDFYEEIQEFVKDVFSPIGERLGWDPKPGEGHLDALLRGLVLGKLGKAGHKA
TLEEARRRFKDHVEGKQILSADLRSPVYLTVLKHGDGTTLDIMLKLHKQADMQEEKNRIE
RVLGATLLPDLIQKVLTFALSEEVRPQDTVSVIGGVAGGSKHGRKAAWKFIKDNWEELYN
RYQGGFLISRLIKLSVEGFAVDKMAGEVKAFFESHPAPSAERTIQQCCENILLNAAWLKR
DAESIHQYLLQRKASPPTV
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| Position | Chain | Variation | Link |
| complement(45) | - | t, g | dbSNP:2611985 |
| complement(57) | - | c, a | dbSNP:2611984 |
| complement(105) | - | g, a | dbSNP:2611983 |
| complement(149) | - | c, a | dbSNP:78973605 |
| complement(220) | - | t, c | dbSNP:28619171 |
| complement(254) | - | t, c | dbSNP:62075980 |
| 411 | + | a, g | dbSNP:28482949 |
| complement(646) | - | t, c | dbSNP:77925372 |
| complement(712) | - | t, c | dbSNP:2661174 |
| complement(794..795) | - | , tcaacatt | dbSNP:11280215 |
| complement(804) | - | g, c | dbSNP:2611877 |
| 818 | + | a, g | dbSNP:66554951 |
| 1022 | + | c, t | dbSNP:3968300 |
| 1051 | + | a, g | dbSNP:4060752 |
| 1066 | + | a, g | dbSNP:3968301 |
| complement(1188) | - | t, c | dbSNP:1809279 |
| 1285 | + | c, t | dbSNP:2644321 |
| complement(1337) | - | g, a | dbSNP:2610295 |
| 1521 | + | g, t | dbSNP:76398682 |
| complement(1559) | - | g, a | dbSNP:11544247 |
| 1789 | + | c, g | dbSNP:79778933 |
| complement(2840) | - | g, c | dbSNP:34598464 |
| 2958 | + | a, g | dbSNP:117995449 |
| 3044 | + | c, t | dbSNP:111492806 |
| 3180 | + | a, c | dbSNP:80136085 |
| 3309..3310 | + | , g | dbSNP:34314592 |
| 3476 | + | a, g | dbSNP:1801416 |
| 3489 | + | , t | dbSNP:111944725 |
| 3501 | + | , t | dbSNP:57585141 |
| 3611 | + | a, c | dbSNP:76443199 |
| 3835 | + | c, t | dbSNP:17609248 |
| 3926 | + | c, t | dbSNP:17677508 |
| 4081..4082 | + | , cta | dbSNP:80256006 |
| 4081 | + | a, c | dbSNP:78243556 |
| 4082..4083 | + | , cta | dbSNP:71712895 |
| 4084..4085 | + | , cta | dbSNP:3065062 |
| 4085 | + | a, c | dbSNP:80040289 |
| 4089 | + | g, t | dbSNP:115676165 |
| 4105 | + | c, g | dbSNP:3809866 |
| complement(4160) | - | g, a | dbSNP:3087904 |
| Gene Symbol | NPEPPS |
| Gene Synonym | AAP-S; MP100; PSA |
| Chromosome | 17 |
| Locus Map | 17q21 |
| All Transcripts | NM_006310 |
| Title | Involvement of puromycin-sensitive aminopeptidase in proteolysis of tau protein in cultured cells, and attenuated proteolysis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) mutant tau . |
| Author | Yanagi,K., Tanaka,T., Kato,K., Sadik,G., Morihara,T., Kudo,T. and Takeda,M. |
| Journal | Psychogeriatrics 9 (4), 157-166 (2009) |
| Title | Cobalt chloride-induced downregulation of puromycin-sensitive aminopeptidase suppresses the migration and invasion of PC-3 cells . |
| Author | Lee,S.H. and Kim,H.G. |
| Journal | J. Microbiol. Biotechnol. 19 (5), 530-536 (2009) |
| Title | Large-scale mapping of human protein-protein interactions by mass spectrometry . |
| Author | Ewing,R.M., Chu,P., Elisma,F., Li,H., Taylor,P., Climie,S., McBroom-Cerajewski,L., Robinson,M.D., O'Connor,L., Li,M., Taylor,R., Dharsee,M., Ho,Y., Heilbut,A., Moore,L., Zhang,S., Ornatsky,O., Bukhman,Y.V., Ethier,M., Sheng,Y., Vasilescu,J., Abu-Farha,M., Lambert,J.P., Duewel,H.S., Stewart,I.I., Kuehl,B., Hogue,K., Colwill,K., Gladwish,K., Muskat,B., Kinach,R., Adams,S.L., Moran,M.F., Morin,G.B., Topaloglou,T. and Figeys,D. |
| Journal | Mol. Syst. Biol. 3, 89 (2007) |
| Title | Analysis of conserved residues of the human puromycin-sensitive aminopeptidase . |
| Author | Thompson,M.W. and Hersh,L.B. |
| Journal | Peptides 24 (9), 1359-1365 (2003) |
| Title | Human puromycin-sensitive aminopeptidase: cloning of 3' UTR, evidence for a polymorphism at a.a. 140 and refined chromosomal localization to 17q21 . |
| Author | Bauer,W.O., Nanda,I., Beck,G., Schmid,M. and Jakob,F. |
| Journal | Cytogenet. Cell Genet. 92 (3-4), 221-224 (2001) |
| Title | cDNA cloning and molecular characterization of human brain metalloprotease MP100: a beta-secretase candidate? . |
| Author | Huber,G., Thompson,A., Gruninger,F., Mechler,H., Hochstrasser,R., Hauri,H.P. and Malherbe,P. |
| Journal | J. Neurochem. 72 (3), 1215-1223 (1999) |
| Title | Cloning of the human puromycin-sensitive aminopeptidase and evidence for expression in neurons . |
| Author | Tobler,A.R., Constam,D.B., Schmitt-Graff,A., Malipiero,U., Schlapbach,R. and Fontana,A. |
| Journal | J. Neurochem. 68 (3), 889-897 (1997) |
| Title | Puromycin-sensitive aminopeptidase. Sequence analysis, expression, and functional characterization . |
| Author | Constam,D.B., Tobler,A.R., Rensing-Ehl,A., Kemler,I., Hersh,L.B. and Fontana,A. |
| Journal | J. Biol. Chem. 270 (45), 26931-26939 (1995) |
| Title | Immunocytochemical comparison of cultured normal epithelial prostatic cells with prostatic tissue sections . |
| Author | Cussenot,O., Berthon,P., Cochand-Priollet,B., Maitland,N.J. and Le Duc,A. |
| Journal | Exp. Cell Res. 214 (1), 83-92 (1994) |
| Title | Studies on the tissue distribution of the puromycin-sensitive enkephalin-degrading aminopeptidases . |
| Author | McLellan,S., Dyer,S.H., Rodriguez,G. and Hersh,L.B. |
| Journal | J. Neurochem. 51 (5), 1552-1559 (1988) |
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