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Protein Ontology Report - APP

PR:000004168 - http://purl.obolibrary.org/obo/PR_000004168
Ontology Information
PRO ID PR:000004168 Show OBO stanza / PAF
PRO name amyloid-beta precursor protein
Synonyms
PRO-short-label: APP
EXACT: ABPP; AG; APPI; CVAP; PN-II; PreA4; alzheimer disease amyloid A4 protein homolog; alzheimer disease amyloid protein; amyloid beta A4 protein; amyloid precursor protein; amyloid-beta A4 protein; amyloidogenic glycoprotein; cerebral vascular amyloid peptide; protease nexin-II
Gene-based: A4; AD1
Definition A protein that is a translation product of the human APP gene or a 1:1 ortholog thereof. [PRO:DNx]
Comment Requested by=Alzforum.
PRO Category gene
Parent PR:000000001 protein
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 4
sequence 10 organism-sequence 79
modification 46 organism-modification 16
union 0
Term Hierarchy Visualization DAG     OLS     Cytoscape

Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000025601
hAPP/var:KM670/671NL
Lys-670, CHEBI:50347|Met-671, CHEBI:30006
associated_with_disease_progression DOID:10652 Alzheimer's disease UniProtKB_VAR:VAR_000015
PR:000036991
hAPP/var:M722K
Met-722, CHEBI:29967
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-m722k
PR:000036990
hAPP/var:I716M
Ile-716, CHEBI:16044
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-i716m
PR:000037518
hAPP/var:A673V
Ala-673, CHEBI:30015
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-a673v
PR:000037519
hAPP/var:D678H
Asp-678, CHEBI:29979
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-d678h-taiwanese
PR:000025571
hAPP/var:I716V
Ile-716, CHEBI:30015
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:9328472, UniProtKB_VAR:VAR_000020
PR:000025576
hAPP/var:L723P
Leu-723, CHEBI:50342
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:10665499, UniProtKB_VAR:VAR_010109
PR:000025570
hAPP/var:V715M
Val-715, CHEBI:16044
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:10097173, UniProtKB_VAR:VAR_010108
PR:000025598
hAPP/var:K724N
Lys-724, CHEBI:50347
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-k724n-belgian
PR:000025573
hAPP/var:V717G
Val-717, CHEBI:29947
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:1944558, PMID:8476439, UniProtKB_VAR:VAR_000022
PR:000025591
hAPP/var:A673T
Ala-673, CHEBI:30013
associated_with_disease_suppression DOID:10652 Alzheimer's disease Alzforum:app-a673t-icelandic
PR:000025572
hAPP/var:V717F
Val-717, CHEBI:29997
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:1925564, PMID:8267572, PMID:8290042, PMID:8476439, UniProtKB_VAR:VAR_000023
PR:000025574
hAPP/var:V717I
Val-717, CHEBI:30009
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:10631141, PMID:1671712, PMID:1678058, PMID:1908231, PMID:8267572, PMID:8476439, PMID:8577393, UniProtKB_VAR:VAR_000021
PR:000025575
hAPP/var:V717L
Val-717, CHEBI:30006
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:10867787, UniProtKB_VAR:VAR_014219
PR:000037520
hAPP/var:K687N
Lys-687, CHEBI:50347
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-k687n
PR:000025597
hAPP/var:T719P
Thr-719, CHEBI:50342
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-t719p
PR:000025596
hAPP/var:I716T
Ile-716, CHEBI:30013
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-i716t
PR:000025595
hAPP/var:I716F
Ile-716, CHEBI:29997
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-i716f-iberian
PR:000025594
hAPP/var:V715A
Val-715, CHEBI:46217
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-v715a-german
PR:000025599
hAPP/var:E682K
Glu-682, CHEBI:29967
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-e682k-leuven
PR:000025602
hAPP/var:E693del
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-e693del-osaka
PR:000025568
hAPP/var:T714A
Thr-714, CHEBI:46217
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:12034808, UniProtKB_VAR:VAR_032277
PR:000025569
hAPP/var:T714I
Thr-714, CHEBI:30009
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:11063718, PMID:15668448, UniProtKB_VAR:VAR_014218
PR:000025566
hAPP/var:L705V
Leu-705, CHEBI:30015
associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy PMID:16178030, UniProtKB_VAR:VAR_032276
PR:000025567
hAPP/var:A713T
Ala-713, CHEBI:30013
associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy Alzforum:app-a713t
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:1303275, PMID:15365148, UniProtKB_VAR:VAR_000019
PR:000025564
hAPP/var:E693Q
Glu-693, CHEBI:30011
associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy PMID:2111584, UniProtKB_VAR:VAR_000017
PR:000025565
hAPP/var:D694N
Asp-694, CHEBI:50347
associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy PMID:11409420, PMID:12654973, UniProtKB_VAR:VAR_014217
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-d694n-iowa
PR:000025562
hAPP/var:E693G
Glu-693, CHEBI:29947
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:11528419, PMID:1415269, UniProtKB_VAR:VAR_014215
PR:000025563
hAPP/var:E693K
Glu-693, CHEBI:29967
associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy UniProtKB_VAR:VAR_014216
PR:000025560
hAPP/var:D678N
Asp-678, CHEBI:50347
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:15201367, UniProtKB_VAR:VAR_044424
PR:000025561
hAPP/var:A692G
Ala-692, CHEBI:29947
associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:11311152, PMID:1303239, PMID:9754958, UniProtKB_VAR:VAR_000016

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