amphiphysin (AMPH, AMPH1)

Function

• may participate in mechanisms of regulated exocytosis in synapses & certain endocrine cell types
• may control properties of membrane associated cytoskeleton
• heterodimer with BIN1
• binds SH3GLB1 & AP2A2
• interacts with AP2B1

Structure

• contains 1 BAR domain
• contains 1 SH3 domain

Compartment

• cytoplasmic vesicle, secretory vesicle
• synaptic vesicle membrane
• peripheral membrane protein; cytoplasmic side
• cytoplasm, cytoskeleton

Alternative splicing

named isoforms=2

Expression

• expressed in neurons, certain endocrine cell types & spermatocytes

Pathology

• antibodies against AMPH are detected in patients with stiff-man syndrome

More general terms

• cytoskeletal protein
• antigen
• phosphoprotein

Additional terms

• anti-amphiphysin antibody

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=273
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:273
• OMIM: https://mirror.omim.org/entry/600418
• UniProt: http://www.uniprot.org/uniprot/P49418.html