Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 8, mRNA.
| RefSeq Version | NM_001204301.1, 324021737 |
| Length | 3594 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 8, mRNA. |
| Product | amyloid beta A4 protein isoform h precursor |
| Comment | Summary: This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (8) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (h, also known as L-APP752) has the same N- and C-termini but is shorter compared to isoform a. No full-length transcript is available for this transcript; however, it is supported by PMID:1429732 and other publications. |
| RefSeq | NP_001191230.1 |
| CDS | 201..2459 | Exon (1) | 1..257 | Exon (2) | 1..257 | Exon (3) | 258..425 | Exon (4) | 426..555 | Exon (5) | 556..668 | Exon (6) | 669..862 | Exon (7) | 863..1065 | Exon (8) | 1066..1233 | Exon (9) | 1234..1290 | Exon (10) | 1291..1424 | Exon (11) | 1425..1499 | Exon (12) | 1500..1658 | Exon (13) | 1659..1787 | Exon (14) | 1788..1887 | Exon (15) | 1888..2109 | Exon (16) | 2110..2210 | Exon (17) | 2211..2357 | Exon (18) | 2358..3579 |
| Translation | MLPGLALLLLAAWTARALEVPTDGNAGLLAEPQIAMFCGRLNMHMNVQNGKWDSDPSGTK
TCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGRKQCKTHPHFVIPYRCLVG
EFVSDALLVPDKCKFLHQERMDVCETHLHWHTVAKETCSEKSTNLHDYGMLLPCGIDKFR
GVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYADGSEDKVVEVAEEEEVAEVEEE
EADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTTTTTTESVEEVVREVCSEQAETGPC
RAMISRWYFDVTEGKCAPFFYGGCGGNRNNFDTEEYCMAVCGSAMSQSLLKTTQEPLARD
PVKLPTTAASTPDAVDKYLETPGDENEHAHFQKAKERLEAKHRERMSQVMREWEEAERQA
KNLPKADKKAVIQHFQEKVESLEQEAANERQQLVETHMARVEAMLNDRRRLALENYITAL
QAVPPRPRHVFNMLKKYVRAEQKDRQHTLKHFEHVRMVDPKKAAQIRSQVMTHLRVIYER
MNQSLSLLYNVPAVAEEIQDEVDELLQKEQNYSDDVLANMISEPRISYGNDALMPSLTET
KTTVELLPVNGEFSLDDLQPWHSFGADSVPANTENEGSGLTNIKTEEISEVKMDAEFRHD
SGYEVHHQKLVFFAEDVGSNKGAIIGLMVGGVVIATVIVITLVMLKKKQYTSIHHGVVEV
DAAVTPEERHLSKMQQNGYENPTYKFFEQMQN
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| Position | Chain | Variation | Link |
| Gene Symbol | APP |
| Gene Synonym | AAA; ABETA; ABPP; AD1; APPI; CTFgamma; CVAP; PN2 |
| Chromosome | 21 |
| Locus Map | 21q21.3 |
| All Transcripts | NM_001204301 , NM_001204302 , NM_001204303 , NM_001136130 , NM_001136129 , NM_000484 , NM_201413 , NM_201414 , NM_001136016 , NM_001136131 |
| Title | Bioluminescence imaging of Abeta deposition in bigenic mouse models of Alzheimer's disease . |
| Author | Watts,J.C., Giles,K., Grillo,S.K., Lemus,A., DeArmond,S.J. and Prusiner,S.B. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 108 (6), 2528-2533 (2011) |
| Title | Abeta40(L17A/F19A) mutant diminishes the aggregation and neurotoxicity of Abeta40 . |
| Author | Chen,Y.R., Huang,H.B., Lo,C.J., Wang,C.C., Su,C.L., Liu,H.T., Shiao,M.S., Lin,T.H. and Chen,Y.C. |
| Journal | Biochem. Biophys. Res. Commun. 405 (1), 91-95 (2011) |
| Title | In vivo fibrillar beta-amyloid detected using [11C]PiB positron emission tomography and neuropathologic assessment in older adults . |
| Author | Sojkova,J., Driscoll,I., Iacono,D., Zhou,Y., Codispoti,K.E., Kraut,M.A., Ferrucci,L., Pletnikova,O., Mathis,C.A., Klunk,W.E., O'Brien,R.J., Wong,D.F., Troncoso,J.C. and Resnick,S.M. |
| Journal | Arch. Neurol. 68 (2), 232-240 (2011) |
| Title | Association of plasma beta-amyloid level and cognitive reserve with subsequent cognitive decline . |
| Author | Yaffe,K., Weston,A., Graff-Radford,N.R., Satterfield,S., Simonsick,E.M., Younkin,S.G., Younkin,L.H., Kuller,L., Ayonayon,H.N., Ding,J. and Harris,T.B. |
| Journal | JAMA 305 (3), 261-266 (2011) |
| Title | Stoichiometry and affinity of the human serum albumin-Alzheimer's Abeta peptide interactions . |
| Author | Milojevic,J. and Melacini,G. |
| Journal | Biophys. J. 100 (1), 183-192 (2011) |
| Title | More missense in amyloid gene . |
| Author | Carter,D.A., Desmarais,E., Bellis,M., Campion,D., Clerget-Darpoux,F., Brice,A., Agid,Y., Jaillard-Serradt,A. and Mallet,J. |
| Journal | Nat. Genet. 2 (4), 255-256 (1992) |
| Title | Schizophrenia scepticism . |
| Author | Mant,R., Asherson,P., Gill,M., McGuffin,P., Owen,M., Wert,S.E., Gregory,R.J., Smith,A.E., Cohn,J.A., Wilson,J.M. et al. |
| Journal | Nat. Genet. 2 (1), 12 (1992) |
| Title | A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid . |
| Author | Mullan,M., Crawford,F., Axelman,K., Houlden,H., Lilius,L., Winblad,B. and Lannfelt,L. |
| Journal | Nat. Genet. 1 (5), 345-347 (1992) |
| Title | Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia . |
| Author | Jones,C.T., Morris,S., Yates,C.M., Moffoot,A., Sharpe,C., Brock,D.J. and St Clair,D. |
| Journal | Nat. Genet. 1 (4), 306-309 (1992) |
| Title | Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene . |
| Author | Hendriks,L., van Duijn,C.M., Cras,P., Cruts,M., Van Hul,W., van Harskamp,F., Warren,A., McInnis,M.G., Antonarakis,S.E., Martin,J.J. et al. |
| Journal | Nat. Genet. 1 (3), 218-221 (1992) |
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