Atlas of Genetics and Cytogenetics in Oncology and Haematology


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APP (amyloid beta (A4) precursor protein)

Identity

Other namesAAA
ABETA
ABPP
AD1
APPI
CTFgamma
CVAP
PN-II
PN2
HGNC (Hugo) APP
LocusID (NCBI) 351
Location 21q21.3
Location_base_pair Starts at 27252861 and ends at 27543138 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)APP   620
Cards
Entrez_Gene (NCBI)APP  351  amyloid beta (A4) precursor protein
GeneCards (Weizmann)APP
Ensembl (Hinxton)ENSG00000142192 [Gene_View]  chr21:27252861-27543138 [Contig_View]  APP [Vega]
ICGC DataPortalENSG00000142192
cBioPortalAPP
AceView (NCBI)APP
Genatlas (Paris)APP
WikiGenes351
SOURCE (Princeton)NM_000484 NM_001136016 NM_001136129 NM_001136130 NM_001136131 NM_001204301 NM_001204302 NM_001204303 NM_201413 NM_201414
Genomic and cartography
GoldenPath (UCSC)APP  -  21q21.3   chr21:27252861-27543138 -  21q21.3   [Description]    (hg19-Feb_2009)
EnsemblAPP - 21q21.3 [CytoView]
Mapping of homologs : NCBIAPP [Mapview]
OMIM104300   104760   605714   
Gene and transcription
Genbank (Entrez)A02759 AB066441 AF282245 AK294534 AK295373
RefSeq transcript (Entrez)NM_000484 NM_001136016 NM_001136129 NM_001136130 NM_001136131 NM_001204301 NM_001204302 NM_001204303 NM_201413 NM_201414
RefSeq genomic (Entrez)AC_000153 NC_000021 NC_018932 NG_007376 NT_011512 NW_001838706 NW_004929426
Consensus coding sequences : CCDS (NCBI)APP
Cluster EST : UnigeneHs.434980 [ NCBI ]
CGAP (NCI)Hs.434980
Alternative Splicing : Fast-db (Paris)GSHG0019603
Alternative Splicing GalleryENSG00000142192
Gene ExpressionAPP [ NCBI-GEO ]     APP [ SEEK ]   APP [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05067 (Uniprot)
NextProtP05067  [Medical]
With graphics : InterProP05067
Splice isoforms : SwissVarP05067 (Swissvar)
Domaine pattern : Prosite (Expaxy)A4_EXTRA (PS00319)    A4_INTRA (PS00320)    BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)   
Domains : Interpro (EBI)Amyloid_glyco [organisation]   Amyloid_glyco_Abeta [organisation]   Amyloid_glyco_Cu-bd [organisation]   Amyloid_glyco_E2_domain [organisation]   Amyloid_glyco_extra [organisation]   Amyloid_glyco_extracell_CS [organisation]   Amyloid_glyco_heparin-bd [organisation]   Amyloid_glyco_intracell_CS [organisation]   APP [organisation]   APP_amyloid_C [organisation]   Prot_inh_Kunz-m [organisation]   Prtase_inh_Kunz-CS [organisation]  
Related proteins : CluSTrP05067
Domain families : Pfam (Sanger)APP_amyloid (PF10515)    APP_Cu_bd (PF12924)    APP_E2 (PF12925)    APP_N (PF02177)    Beta-APP (PF03494)    Kunitz_BPTI (PF00014)   
Domain families : Pfam (NCBI)pfam10515    pfam12924    pfam12925    pfam02177    pfam03494    pfam00014   
Domain families : Smart (EMBL)A4_EXTRA (SM00006)  KU (SM00131)  
DMDM Disease mutations351
Blocks (Seattle)P05067
PDB (SRS)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4MDR   
PDB (PDBSum)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4MDR   
PDB (IMB)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4MDR   
PDB (RSDB)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4MDR   
Human Protein AtlasENSG00000142192 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP05067
HPRD00100
IPIIPI00006608   IPI00394658   IPI00219182   IPI00219183   IPI00412568   IPI00219185   IPI00219186   IPI00219187   IPI00412924   IPI00412681   IPI01014704   IPI00982225   IPI00981582   IPI00914602   
Protein Interaction databases
DIP (DOE-UCLA)P05067
IntAct (EBI)P05067
FunCoupENSG00000142192
BioGRIDAPP
InParanoidP05067
Interologous Interaction database P05067
IntegromeDBAPP
STRING (EMBL)APP
Ontologies - Pathways
Ontology : AmiGOmitotic G2 phase  suckling behavior  platelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  nuclear envelope lumen  cytoplasm  cytoplasm  Golgi apparatus  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  coated pit  mRNA polyadenylation  regulation of translation  protein phosphorylation  cellular copper ion homeostasis  endocytosis  response to oxidative stress  cell adhesion  regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  axonogenesis  blood coagulation  mating behavior  locomotory behavior  axon cargo transport  heparin binding  cholesterol metabolic process  adult locomotory behavior  visual learning  cell surface  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  positive regulation of peptidase activity  positive regulation of G2/M transition of mitotic cell cycle  integral component of membrane  axon midline choice point recognition  neuron remodeling  dendrite development  peptidase activator activity  enzyme binding  platelet activation  extracellular matrix organization  extracellular matrix organization  axon  forebrain development  platelet alpha granule lumen  neuron projection development  neuromuscular junction  acetylcholine receptor binding  ionotropic glutamate receptor signaling pathway  ciliary rootlet  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  regulation of multicellular organism growth  identical protein binding  dendritic spine  dendritic shaft  intracellular membrane-bounded organelle  receptor complex  regulation of protein binding  innate immune response  membrane raft  apical part of cell  synapse  negative regulation of neuron differentiation  positive regulation of mitotic cell cycle  positive regulation of transcription from RNA polymerase II promoter  transition metal ion binding  perinuclear region of cytoplasm  collateral sprouting in absence of injury  regulation of synapse structure and activity  neuromuscular process controlling balance  synaptic growth at neuromuscular junction  spindle midzone  neuron apoptotic process  PTB domain binding  smooth endoplasmic reticulum calcium ion homeostasis  extracellular vesicular exosome  growth factor receptor binding  
Ontology : EGO-EBImitotic G2 phase  suckling behavior  platelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  nuclear envelope lumen  cytoplasm  cytoplasm  Golgi apparatus  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  coated pit  mRNA polyadenylation  regulation of translation  protein phosphorylation  cellular copper ion homeostasis  endocytosis  response to oxidative stress  cell adhesion  regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  axonogenesis  blood coagulation  mating behavior  locomotory behavior  axon cargo transport  heparin binding  cholesterol metabolic process  adult locomotory behavior  visual learning  cell surface  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  positive regulation of peptidase activity  positive regulation of G2/M transition of mitotic cell cycle  integral component of membrane  axon midline choice point recognition  neuron remodeling  dendrite development  peptidase activator activity  enzyme binding  platelet activation  extracellular matrix organization  extracellular matrix organization  axon  forebrain development  platelet alpha granule lumen  neuron projection development  neuromuscular junction  acetylcholine receptor binding  ionotropic glutamate receptor signaling pathway  ciliary rootlet  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  regulation of multicellular organism growth  identical protein binding  dendritic spine  dendritic shaft  intracellular membrane-bounded organelle  receptor complex  regulation of protein binding  innate immune response  membrane raft  apical part of cell  synapse  negative regulation of neuron differentiation  positive regulation of mitotic cell cycle  positive regulation of transcription from RNA polymerase II promoter  transition metal ion binding  perinuclear region of cytoplasm  collateral sprouting in absence of injury  regulation of synapse structure and activity  neuromuscular process controlling balance  synaptic growth at neuromuscular junction  spindle midzone  neuron apoptotic process  PTB domain binding  smooth endoplasmic reticulum calcium ion homeostasis  extracellular vesicular exosome  growth factor receptor binding  
Pathways : BIOCARTAPlatelet Amyloid Precursor Protein Pathway [Genes]    Deregulation of CDK5 in Alzheimers Disease [Genes]    Generation of amyloid b-peptide by PS1 [Genes]   
Pathways : KEGGSerotonergic synapse    Alzheimer's disease   
Protein Interaction DatabaseAPP
Wikipedia pathwaysAPP
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)APP
snp3D : Map Gene to Disease351
SNP (GeneSNP Utah)APP
SNP : HGBaseAPP
Genetic variants : HAPMAPAPP
Exome VariantAPP
1000_GenomesAPP 
ICGC programENSG00000142192 
Somatic Mutations in Cancer : COSMICAPP 
CONAN: Copy Number AnalysisAPP 
Mutations and Diseases : HGMDAPP
Genomic VariantsAPP  APP [DGVbeta]
dbVarAPP
ClinVarAPP
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM104300    104760    605714   
MedgenAPP
GENETestsAPP
Disease Genetic AssociationAPP
Huge Navigator APP [HugePedia]  APP [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneAPP
Homology/Alignments : Family Browser (UCSC)APP
Phylogenetic Trees/Animal Genes : TreeFamAPP
Chemical/Protein Interactions : CTD351
Chemical/Pharm GKB GenePA24910
Clinical trialAPP
Cancer Resource (Charite)ENSG00000142192
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineAPP
iHOPAPP
OncoSearchAPP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:24:09 CEST 2014

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