AP2M1
Summary: This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| adaptor related protein complex 2 subunit mu 1 | MIM:601024 | Ensembl:ENSG00000161203 | HGNC:HGNC:564 | PA24855 | 3q27.1 |
Gene Categories:
TRANSPORTERGO terms in AP2M1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006886 | intracellular protein transport |
| BP | IMP | GO:0016050 | vesicle organization |
| BP | TAS | GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II |
| BP | IMP | GO:0031623 | receptor internalization |
| BP | TAS | GO:0032802 | low-density lipoprotein particle receptor catabolic process |
| BP | TAS | GO:0034383 | low-density lipoprotein particle clearance |
| BP | TAS | GO:0048013 | ephrin receptor signaling pathway |
| BP | TAS | GO:0050690 | regulation of defense response to virus by virus |
| BP | TAS | GO:0060071 | Wnt signaling pathway, planar cell polarity pathway |
| BP | TAS | GO:0061024 | membrane organization |
| BP | TAS | GO:0072583 | clathrin-dependent endocytosis |
| BP | IMP | GO:0097494 | regulation of vesicle size |
| BP | IMP | GO:1903077 | negative regulation of protein localization to plasma membrane |
| CC | TAS | GO:0005765 | lysosomal membrane |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0030122 | AP-2 adaptor complex |
| CC | TAS | GO:0030666 | endocytic vesicle membrane |
| CC | TAS | GO:0030669 | clathrin-coated endocytic vesicle membrane |
| CC | TAS | GO:0036020 | endolysosome membrane |
| CC | NAS | GO:0045334 | clathrin-coated endocytic vesicle |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IDA | GO:0005048 | signal sequence binding |
| MF | TAS | GO:0005215 | transporter activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008289 | lipid binding |
| MF | TAS | GO:0035615 | clathrin adaptor activity |
| MF | IPI | GO:0044325 | ion channel binding |
| MF | ISS | GO:0050750 | low-density lipoprotein particle receptor binding |
Gene expression in normal tissue: AP2M1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AP2M1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-157858 | Gap junction trafficking and regulation |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162906 | HIV Infection |
| reactome | R-HSA-162909 | Host Interactions of HIV factors |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-164938 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters |
| reactome | R-HSA-164939 | Nef mediated downregulation of CD28 cell surface expression |
| reactome | R-HSA-164952 | The role of Nef in HIV-1 replication and disease pathogenesis |
| reactome | R-HSA-166520 | Signaling by NTRKs |
| reactome | R-HSA-166520 | Signaling by NTRKs |
| reactome | R-HSA-167590 | Nef Mediated CD4 Down-regulation |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| reactome | R-HSA-177504 | Retrograde neurotrophin signalling |
| reactome | R-HSA-177504 | Retrograde neurotrophin signalling |
| reactome | R-HSA-182218 | Nef Mediated CD8 Down-regulation |
| reactome | R-HSA-187037 | Signaling by NTRK1 (TRKA) |
| reactome | R-HSA-187037 | Signaling by NTRK1 (TRKA) |
| reactome | R-HSA-190828 | Gap junction trafficking |
| reactome | R-HSA-190873 | Gap junction degradation |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-196025 | Formation of annular gap junctions |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-2132295 | MHC class II antigen presentation |
| reactome | R-HSA-2682334 | EPH-Ephrin signaling |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-3858494 | Beta-catenin independent WNT signaling |
| reactome | R-HSA-3928665 | EPH-ephrin mediated repulsion of cells |
| reactome | R-HSA-399719 | Trafficking of AMPA receptors |
| reactome | R-HSA-399721 | Glutamate binding, activation of AMPA receptors and synaptic plasticity |
| reactome | R-HSA-4086400 | PCP/CE pathway |
| reactome | R-HSA-416993 | Trafficking of GluR2-containing AMPA receptors |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-437239 | Recycling pathway of L1 |
| reactome | R-HSA-437239 | Recycling pathway of L1 |
| reactome | R-HSA-5099900 | WNT5A-dependent internalization of FZD4 |
| reactome | R-HSA-5140745 | WNT5A-dependent internalization of FZD2, FZD5 and ROR2 |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5663205 | Infectious disease |
| reactome | R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| reactome | R-HSA-8856828 | Clathrin-mediated endocytosis |
| reactome | R-HSA-8866427 | VLDLR internalisation and degradation |
| reactome | R-HSA-8964038 | LDL clearance |
| reactome | R-HSA-8964043 | Plasma lipoprotein clearance |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| biocarta | barrestinpathway | -arrestins in gpcr desensitization |
| biocarta | ndkdynaminpathway | endocytotic role of ndk phosphins and dynamin |
| pid | arf_3pathway | Arf1 pathway |
| netpath | Pathway_Ghrelin | Ghrelin |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04721 | Synaptic vesicle cycle - Homo sapiens (human) |
| kegg | hsa04961 | Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human) |
| kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
| wikipathways | WP2267 | Synaptic Vesicle Pathway |
| wikipathways | WP4159 | GABA receptor Signaling |
| wikipathways | WP437 | EGF-EGFR Signaling Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AP2M1
CLASSFICATION
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