AP2M1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
AP2M1
Official Name
adaptor related protein complex 2 subunit mu 1 [Source:HGNC Symbol;Acc:HGNC:564]
Ensembl ID
ENSG00000161203
Bio databases IDs NCBI: 1173 Ensembl: ENSG00000161203
Aliases adaptor related protein complex 2 subunit mu 1, clathrin-associated/assembly/adaptor protein, medium 1, plasma membrane adaptor AP-2 50kDA protein, clathrin coat adaptor protein AP50, clathrin adaptor complex AP2, mu subunit, HA2 50 kDA subunit, clathrin assembly protein complex 2 medium chain, AP-2 mu 2 chain
Synonyms adaptor-related protein complex 2, mu 1 subunit, adaptor related protein complex 2 subunit mu 1, AP2M, AP2 mu, Ap2 Mu1, AP2 MU2, AP-2 mu2 subunit, AP50, CLAPM1, MRD60, mu2, Mu2 adaptin, Mu 2 subunit of AP-2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AP2M1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • activation domain
  • tyrosine binding pocket
  • AP_MHD_Cterm
  • protein binding activity, bridging
  • ion channel binding
  • Adaptor complexes medium subunit family
  • linker domain
  • protein domain specific binding
  • protein binding
  • low-density lipoprotein receptor binding
  • Longin-like domains
  • signal sequence binding

Pathways

Biological processes and signaling networks where the AP2M1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • autosomal dominant intellectual developmental disorder with seizures type 60
  • complex neurodevelopmental disorder
  • infection by HIV-1
regulated by
  • insulin
  • IFNG
  • PP2A
  • ST1926
  • Immunoglobulin
  • WNT3A
  • folic acid
  • CTLA4
  • (2R,6R)-hydroxynorketamine
  • LAMP2
regulates
  • LDLR
  • phosphatidylinositol 4,5-bisphosphate
  • TP53
  • AP2
  • protein-protein complex
  • APP
  • proinsulin
  • cyclic AMP
  • CD4
  • BST2
role in cell
  • necrosis
  • expression in
  • apoptosis
  • degradation in
  • phosphorylation in
  • migration
  • accumulation in
  • replication in
  • downregulation in
  • function in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • glutaminergic synapse
  • endocytic vesicle membrane
  • cellular membrane
  • Plasma Membrane
  • cytosol
  • lysosome membrane
  • endosomal membrane
  • synaptic vesicles
  • synapse
  • secretory granules
  • clathrin-coated pits
  • clathrin-coated vesicles
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human AP2M1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • clathrin-mediated endocytosis
  • vesicle-mediated transport
  • membrane budding
  • macromolecular complex assembly
  • positive regulation of receptor internalization
  • synaptic vesicle endocytosis
  • positive regulation of synaptic vesicle endocytosis
  • intracellular protein transport
  • receptor internalization

Cellular Component

Where in the cell the gene product is active
  • endolysosome membrane
  • clathrin-coated endocytic vesicle
  • lysosomal membrane
  • plasma membrane
  • internal side of plasma membrane
  • clathrin-coated endocytic vesicle membrane
  • extracellular vesicular exosome
  • coated pit
  • cytoplasmic vesicle
  • cytosol
  • AP-2 adaptor complex
  • endocytic vesicle membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • low-density lipoprotein particle receptor binding
  • clathrin adaptor activity
  • lipid binding
  • signal sequence binding
  • ion channel binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.