| URN | urn:agi-llid:351 |
|---|---|
| Total Entities | 0 |
| Connectivity | 5746 |
| Name | App |
| Description | amyloid beta (A4) precursor protein |
| Notes | 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, Jul 2008] |
| GO Molecular Function | peptidase activator activity |
|---|---|
| peptidase inhibitor activity | |
| serine-type endopeptidase inhibitor activity | |
| receptor binding | |
| acetylcholine receptor binding | |
| growth factor receptor binding | |
| PTB domain binding | |
| heparin binding | |
| DNA binding | |
| metal ion binding | |
| transition metal ion binding |
| GO Cellular Component | membrane |
|---|---|
| synapse | |
| cell | |
| extracellular region | |
| integral component of membrane | |
| coated pit | |
| integral component of plasma membrane | |
| ciliary rootlet | |
| spindle midzone | |
| platelet alpha granule lumen | |
| receptor complex | |
| cell surface | |
| intracellular | |
| plasma membrane | |
| apical part of cell | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| cytoplasmic vesicle | |
| ER to Golgi transport vesicle | |
| intracellular membrane-bounded organelle | |
| dendritic spine | |
| dendritic shaft | |
| neuron projection | |
| axon | |
| neuromuscular junction |
| GO Biological Process | mating behavior |
|---|---|
| innate immune response | |
| cholesterol metabolic process | |
| blood coagulation | |
| platelet activation | |
| neuromuscular process controlling balance | |
| visual learning | |
| axon midline choice point recognition | |
| forebrain development | |
| synaptic growth at neuromuscular junction | |
| negative regulation of neuron differentiation | |
| neuron projection development | |
| axonogenesis | |
| collateral sprouting in absence of injury | |
| dendrite development | |
| neuron remodeling | |
| adult locomotory behavior | |
| regulation of multicellular organism growth | |
| cell adhesion | |
| mitotic G2 phase | |
| positive regulation of G2-M transition of mitotic cell cycle | |
| axon cargo transport | |
| positive regulation of mitotic cell cycle | |
| regulation of epidermal growth factor-activated receptor activity | |
| nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | |
| Notch signaling pathway | |
| ionotropic glutamate receptor signaling pathway | |
| regulation of synapse structure and activity | |
| platelet degranulation | |
| smooth endoplasmic reticulum calcium ion homeostasis | |
| cellular copper ion homeostasis | |
| apoptotic process | |
| neuron apoptotic process | |
| extracellular matrix organization | |
| response to oxidative stress | |
| locomotory behavior | |
| suckling behavior | |
| positive regulation of transcription from RNA polymerase II promoter | |
| regulation of translation | |
| regulation of gene expression | |
| negative regulation of peptidase activity | |
| negative regulation of endopeptidase activity | |
| mRNA polyadenylation | |
| protein phosphorylation | |
| endocytosis | |
| regulation of protein binding |
| Pathway | Apoptosis |
|---|---|
| Alzheimer's Disease Overview | |
| Ca2+ Toxicity in Alzheimer's Disease | |
| Amyloid beta Formation | |
| Proteins Involved in Pathogenesis of Alzheimer's Disease | |
| APP Processing | |
| Amyloid beta and APP Intracellular Transport in Alzheimer's Disease | |
| Overview of Mitochondrial Dysfunction in Alzheimer's Disease | |
| Metals and Amyloid beta Toxicity | |
| Mitochondrial Respiratory Chain Dysfunction in Alzheimer's Disease | |
| Mitochondria Enlargement and Apoptosis in Alzheimer's Disease | |
| Tricarboxylic Acid Cycle Involvement in Alzheimer's Disease | |
| Multiple Functions of Estrogen in Mitochondria in Alzheimer's Disease | |
| APP and Glutamate Signaling-Related Neuronal Dysfunction in Alzheimer's Disease | |
| Proteins Involved in Pathogenesis of Melanoma | |
| Proteins Involved in Pathogenesis of Glioma | |
| Proteins Involved in Pathogenesis of Astrocytoma | |
| Proteins Involved in Pathogenesis of Cataract | |
| Proteins Involved in Pathogenesis of Neuroblastoma | |
| Proteins Involved in Pathogenesis of Gout | |
| Proteins Involved in Pathogenesis of Amyotrophic Lateral Sclerosis | |
| Proteins Involved in Pathogenesis of Epilepsy | |
| CHRNA7 -> NOS1 production | |
| CHRNA7 -> IL8 production | |
| CHRNA3-B4/A4-B2/A7 -> ion transport | |
| GFs/TNF -> ion channels | |
| NGF/SMAD3/NF-kB Expression Targets | |
| S100B Expression Targets | |
| FGF2/AP-1/CREB/CREBBP/ELK-SRF/MYC Expression Targets | |
| Insulin/ELK-SRF/HIF1A/MYC/SREBF Expression Targets | |
| Insulin/STAT Expression Targets | |
| FGF2/STAT Expression Targets | |
| IL1A Expression Targets | |
| IL1B/PGE2 Expression Targets | |
| EGF/AP-1/ATF Expression Targets | |
| EGF/STAT Expression Targets | |
| HGF/AP-1/CREB/ELK-SRF/MYC Expression Targets | |
| Insulin/CEBPA/CTNNB/FOXA/FOXO Expression Targets | |
| Insulin/MEF/MYOD Expression Targets | |
| TGFB1-ACVRL1 Expression Targets | |
| TGFB1-TGFBR1/AP-1 Expression Targets | |
| EGF/CTNN Expression Targets | |
| Alzheimer disease pathway | |
| Alzheimer disease pathway | |
| Alzheimer disease pathway - Copy | |
| Copy of 'Alzheimer disease pathway' |
| Group | Spindle assembly |
|---|---|
| mating behavior | |
| innate immune response | |
| cholesterol metabolic process | |
| blood coagulation | |
| platelet activation | |
| neuromuscular process controlling balance | |
| visual learning | |
| axon midline choice point recognition | |
| forebrain development | |
| synaptic growth at neuromuscular junction | |
| negative regulation of neuron differentiation | |
| neuron projection development | |
| axonogenesis | |
| collateral sprouting in absence of injury | |
| dendrite development | |
| neuron remodeling | |
| adult locomotory behavior | |
| regulation of multicellular organism growth | |
| cell adhesion | |
| mitotic G2 phase | |
| positive regulation of G2-M transition of mitotic cell cycle | |
| axon cargo transport | |
| positive regulation of mitotic cell cycle | |
| regulation of epidermal growth factor-activated receptor activity | |
| nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | |
| Notch signaling pathway | |
| ionotropic glutamate receptor signaling pathway | |
| regulation of synapse structure and activity | |
| platelet degranulation | |
| smooth endoplasmic reticulum calcium ion homeostasis | |
| cellular copper ion homeostasis | |
| apoptotic process | |
| neuron apoptotic process | |
| extracellular matrix organization | |
| response to oxidative stress | |
| locomotory behavior | |
| suckling behavior | |
| positive regulation of transcription from RNA polymerase II promoter | |
| regulation of translation | |
| regulation of gene expression | |
| peptidase activator activity | |
| peptidase inhibitor activity | |
| serine-type endopeptidase inhibitor activity | |
| negative regulation of peptidase activity | |
| negative regulation of endopeptidase activity | |
| mRNA polyadenylation | |
| protein phosphorylation | |
| endocytosis | |
| regulation of protein binding | |
| receptor binding | |
| acetylcholine receptor binding | |
| growth factor receptor binding | |
| PTB domain binding | |
| heparin binding | |
| DNA binding | |
| metal ion binding | |
| transition metal ion binding | |
| membrane | |
| synapse | |
| cell | |
| extracellular region | |
| integral component of membrane | |
| coated pit | |
| integral component of plasma membrane | |
| ciliary rootlet | |
| spindle midzone | |
| platelet alpha granule lumen | |
| receptor complex | |
| cell surface | |
| intracellular | |
| plasma membrane | |
| apical part of cell | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| cytoplasmic vesicle | |
| ER to Golgi transport vesicle | |
| intracellular membrane-bounded organelle | |
| dendritic spine | |
| dendritic shaft | |
| neuron projection | |
| axon | |
| neuromuscular junction | |
| Genes with Mutations Associated with Alzheimer's Disease | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 351 |
|---|---|
| 11820 |
| Cell Localization | Nucleus |
|---|---|
| Membrane | |
| Clathrin-coated pit |
| GO ID | 0003677 |
|---|---|
| 0051425 | |
| 0033130 | |
| 0070851 | |
| 0008201 | |
| 0016504 | |
| 0005102 | |
| 0004867 | |
| 0046914 | |
| 0007219 | |
| 0008344 | |
| 0008088 | |
| 0016199 | |
| 0007409 | |
| 0007596 | |
| 0007155 | |
| 0006878 | |
| 0008203 | |
| 0048669 | |
| 0016358 | |
| 0006897 | |
| 0030198 | |
| 0030900 | |
| 0045087 | |
| 0035235 | |
| 0007626 | |
| 0006378 | |
| 0007617 | |
| 0000085 | |
| 0045665 | |
| 0050885 | |
| 0051402 | |
| 0031175 | |
| 0016322 | |
| 0035872 | |
| 0030168 | |
| 0002576 | |
| 0010971 | |
| 0045931 | |
| 0045944 | |
| 0006468 | |
| 0007176 | |
| 0040014 | |
| 0043393 | |
| 0050803 | |
| 0006417 | |
| 0006979 | |
| 0051563 | |
| 0001967 | |
| 0051124 | |
| 0008542 | |
| 0005794 | |
| 0045177 | |
| 0030424 | |
| 0009986 | |
| 0035253 | |
| 0005905 | |
| 0005737 | |
| 0005829 | |
| 0043198 | |
| 0043197 | |
| 0005576 | |
| 0016021 | |
| 0005887 | |
| 0043231 | |
| 0031594 | |
| 0048471 | |
| 0005886 | |
| 0031093 | |
| 0051233 | |
| 0045202 | |
| 0046872 | |
| 0030414 | |
| 0006915 | |
| 0010951 | |
| 0010466 | |
| 0010468 | |
| 0030134 | |
| 0005623 | |
| 0031410 | |
| 0005783 | |
| 0005622 | |
| 0016020 | |
| 0043005 | |
| 0043235 |
| Alias | AAA |
|---|---|
| AD1 | |
| PN2 | |
| ABPP | |
| APPI | |
| CVAP | |
| ABETA | |
| PN-II | |
| CTFgamma | |
| amyloid beta A4 protein | |
| preA4 | |
| protease nexin-II | |
| peptidase nexin-II | |
| beta-amyloid peptide | |
| alzheimer disease amyloid protein | |
| cerebral vascular amyloid peptide | |
| Ag | |
| Adap | |
| betaApp | |
| E030013M08Rik | |
| appican | |
| protease nexin II | |
| amyloidogenic glycoprotein | |
| alzheimer disease amyloid A4 protein homolog | |
| APP-beta | |
| Gamma-CTF 50 | |
| Gamma-CTF 57 | |
| Gamma-CTF 59 | |
| E030013M08 | |
| Gamma-secretase C-terminal fragment 57 | |
| Gamma-secretase C-terminal fragment 50 | |
| RIKEN cDNA E030013M08 gene | |
| Gamma-secretase C-terminal fragment 59 | |
| PN-2 | |
| beta amyloid | |
| appicans | |
| sAPP-beta | |
| S-APP-beta | |
| sAPP-alpha | |
| S-APP-alpha | |
| proteinase nexin PN-2 | |
| proteinase nexin II | |
| protease nexin PN-2 | |
| human mRNA for amyloid A4 precursor of Alzheimer's disease | |
| protease nexin 2 | |
| P3(42) | |
| P3(40) | |
| OTTHUMP00000096096 | |
| proteinase nexin 2 | |
| Abeta(x-40) | |
| AID 50 | |
| Abeta42 | |
| Abeta25-35 | |
| Abeta2-42 | |
| Abeta1-42 | |
| AID 57 | |
| Abeta(x-42) | |
| AbetaPP | |
| A4_RAT | |
| A4_HUMAN | |
| a4 amyloid | |
| A beta PP | |
| APP-alpha | |
| Abeta1-40 | |
| Amyloid intracellular domain 57 | |
| APP | |
| amyloid protein | |
| Abeta40 | |
| Amyloid intracellular domain 59 | |
| AID 59 | |
| Amyloid intracellular domain 50 | |
| amyloid beta-peptide | |
| amyloid beta(Abeta)-protein | |
| AL024401 | |
| amyloid beta | |
| Alzheimer's disease amyloid protein | |
| Alzheimer's disease amyloid beta protein | |
| Alzheimer's disease amyloid A4 protein precursor | |
| amyloid beta (A4) precursor protein | |
| amyloid precursor protein |
| Mouse chromosome position | 16 46.92 cM |
|---|
| OMIM ID | 104760 |
|---|---|
| 104300 | |
| 605714 |
| Hugo ID | 620 |
|---|
| Human chromosome position | 21q21.3 |
|---|
| Swiss-Prot Accession | P05067 |
|---|---|
| B4DGD0 | |
| E9PG40 | |
| B4DJT9 | |
| E9PEV0 | |
| P12023 | |
| Q3TWF3 | |
| Q6GR78 | |
| B2R5V1 | |
| B4DII8 | |
| D3DSD1 | |
| D3DSD2 | |
| D3DSD3 | |
| P09000 | |
| P78438 | |
| Q13764 | |
| Q13778 | |
| Q13793 | |
| Q16011 | |
| Q16014 | |
| Q16019 | |
| Q16020 | |
| Q6GSC0 | |
| Q8WZ99 | |
| Q9BT38 | |
| Q9UC33 | |
| Q9UCA9 | |
| Q9UCB6 | |
| Q9UCC8 | |
| Q9UCD1 | |
| Q9UQ58 | |
| P97487 | |
| P97942 | |
| Q99K32 |
| PIR ID | S01442 |
|---|---|
| S02260 | |
| A27485 | |
| A32282 | |
| S04855 |
| Unigene ID | Hs.434980 |
|---|---|
| Mm.277585 | |
| Mm.489029 | |
| Mm.490986 |
| KEGG ID | hsa:351 |
|---|---|
| mmu:11820 |
| Swiss-Prot ID | A4_HUMAN |
|---|---|
| A4_MOUSE |
| Ensembl ID | ENSG00000142192 |
|---|---|
| ENSP00000284981 | |
| ENST00000346798 | |
| ENSP00000346129 | |
| ENST00000354192 | |
| ENSP00000351796 | |
| ENST00000358918 | |
| ENSP00000350578 | |
| ENST00000357903 | |
| ENSP00000345463 | |
| ENST00000348990 | |
| ENSMUSG00000022892 | |
| ENSMUSP00000005406 | |
| ENSMUST00000005406 |
| Homologene ID | 131156 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus |
| MGI ID | 88059 |
|---|
| MedScan ID | 351 |
|---|