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- Q14906081 abstract "Amphiphysin is a protein that in humans is encoded by the AMPH gene.This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff person syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined.Amphiphysin is a brain-enriched protein with an N-terminal lipid interaction, dimerisation and membrane bending BAR domain, a middle clathrin and adaptor binding domain and a C-terminal SH3 domain. In the brain, its primary function is thought to be the recruitment of dynamin to sites of clathrin-mediated endocytosis. There are 2 mammalian amphiphysins with similar overall structure. A ubiquitous splice form of amphiphysin 2 that does not contain clathrin or adaptor interactions is highly expressed in muscle tissue and is involved in the formation and stabilization of the T-tubule network. In other tissues amphiphysin is likely involved in other membrane bending and curvature stabilization events.".
- Q14906081 entrezgene "273".
- Q14906081 wikiPageExternalLink amphiphysin.html.
- Q14906081 wikiPageExternalLink pmidlookup?view=long&pmid=11711432.
- Q14906081 wikiPageExternalLink pmidlookup?view=long&pmid=14645856.
- Q14906081 wikiPageWikiLink Q11367.
- Q14906081 wikiPageWikiLink Q1235785.
- Q14906081 wikiPageWikiLink Q18022741.
- Q14906081 wikiPageWikiLink Q18030587.
- Q14906081 wikiPageWikiLink Q18030588.
- Q14906081 wikiPageWikiLink Q18031477.
- Q14906081 wikiPageWikiLink Q18033481.
- Q14906081 wikiPageWikiLink Q18037240.
- Q14906081 wikiPageWikiLink Q189814.
- Q14906081 wikiPageWikiLink Q29548.
- Q14906081 wikiPageWikiLink Q40397.
- Q14906081 wikiPageWikiLink Q415068.
- Q14906081 wikiPageWikiLink Q420160.
- Q14906081 wikiPageWikiLink Q4778851.
- Q14906081 wikiPageWikiLink Q4834646.
- Q14906081 wikiPageWikiLink Q5383980.
- Q14906081 wikiPageWikiLink Q7187.
- Q14906081 wikiPageWikiLink Q7365.
- Q14906081 wikiPageWikiLink Q8054.
- Q14906081 wikiPageWikiLink Q896177.
- Q14906081 type Biomolecule.
- Q14906081 type Protein.
- Q14906081 type Thing.
- Q14906081 type Q206229.
- Q14906081 type Q8054.
- Q14906081 comment "Amphiphysin is a protein that in humans is encoded by the AMPH gene.This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff person syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms.".
- Q14906081 label "Amphiphysin".