This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sig
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
AP-2 complex subunit alpha-1 (100 kDa coated vesicle protein A) (Adaptor protein complex AP-2 subunit alpha-1) (Adaptor-related protein complex 2 subunit alpha-1) (Alpha-adaptin A) (Alpha1-adaptin) (Clathrin assembly protein complex 2 alpha-A large chain)
Protein function
Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be invo
TISSUE SPECIFICITY: Expressed in the brain (at protein level) (PubMed:23676497). Isoform A: Expressed in forebrain, skeletal muscle, spinal cord, cerebellum, salivary gland, heart and colon. Isoform B: Widely expressed in tissues and also in breast cancer
["Endocytosis","Synaptic vesicle cycle","Endocrine and other factor-regulated calcium reabsorption","MHC class II antigen presentation","VLDLR internalisation and degradation","Clathrin-mediated endocytosis","Retrograde neurotrophin signalling","Cargo recognition for clathrin-mediated endocytosis","Recycling pathway of L1","EPH-ephrin mediated repulsion of cells","LDL clearance","Nef Mediated CD4 Down-regulation"]
["Endocytosis","Synaptic vesicle cycle","Endocrine and other factor-regulated calcium reabsorption","MHC class II antigen presentation","VLDLR internalisation and degradation","Clathrin-mediated endocytosis","Retrograde neurotrophin signalling","Cargo recognition for clathrin-mediated endocytosis","Recycling pathway of L1","EPH-ephrin mediated repulsion of cells","LDL clearance","Nef Mediated CD4 Down-regulation"]
["Endocytosis","Synaptic vesicle cycle","Endocrine and other factor-regulated calcium reabsorption","MHC class II antigen presentation","VLDLR internalisation and degradation","Clathrin-mediated endocytosis","Retrograde neurotrophin signalling","Cargo recognition for clathrin-mediated endocytosis","Recycling pathway of L1","EPH-ephrin mediated repulsion of cells","LDL clearance","Nef Mediated CD4 Down-regulation"]
["Endocytosis","Synaptic vesicle cycle","Endocrine and other factor-regulated calcium reabsorption","MHC class II antigen presentation","VLDLR internalisation and degradation","Clathrin-mediated endocytosis","Retrograde neurotrophin signalling","Cargo recognition for clathrin-mediated endocytosis","Recycling pathway of L1","EPH-ephrin mediated repulsion of cells","LDL clearance","Nef Mediated CD4 Down-regulation"]
["Endocytosis","Synaptic vesicle cycle","Endocrine and other factor-regulated calcium reabsorption","MHC class II antigen presentation","VLDLR internalisation and degradation","Clathrin-mediated endocytosis","Retrograde neurotrophin signalling","Cargo recognition for clathrin-mediated endocytosis","Recycling pathway of L1","EPH-ephrin mediated repulsion of cells","LDL clearance","WNT5A-dependent internalization of FZD4"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to AP2A1 (see Related Genes above), that are NOT already directly curated for AP2A1 itself -- a lead worth checking, not a confirmed association.