Amphiphysin

Amphiphysin is a protein that in humans is encoded by the AMPH gene.^[5][6]

AMPH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1KY7, 1UTC, 3SOG, 4ATM
Identifiers
Aliases	AMPH, AMPH1, amphiphysin
External IDs	OMIM: 600418; MGI: 103574; HomoloGene: 121585; GeneCards: AMPH; OMA:AMPH - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p14.1 Start 38,383,704 bp[1] End 38,631,420 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A2|13 6.89 cM Start 19,132,375 bp[2] End 19,335,091 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus endothelial cell frontal pole paraflocculus of cerebellum pons Brodmann area 10 cerebellar vermis orbitofrontal cortex Brodmann area 46 superior frontal gyrus Top expressed in saccule amygdala otic vesicle piriform cortex barrel cortex hippocampus proper pontine nuclei dentate gyrus dentate gyrus of hippocampal formation granule cell otic placode More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding phospholipid binding Cellular component actin cytoskeleton cytoplasm cell junction synapse synaptic vesicle membrane cytoskeleton membrane cytoplasmic vesicle synaptic vesicle leading edge membrane cytosol plasma membrane Biological process endocytosis chemical synaptic transmission membrane organization synaptic vesicle endocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 273 218038 Ensembl ENSG00000078053 ENSMUSG00000021314 UniProt P49418 Q7TQF7 RefSeq (mRNA) NM_001635 NM_139316 NM_175007 NM_001289546 RefSeq (protein) NP_001626 NP_647477 NP_001276475 NP_778172 Location (UCSC) Chr 7: 38.38 – 38.63 Mb Chr 13: 19.13 – 19.34 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

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 (BIN1) 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.

Interactions

Amphiphysin has been shown to interact with DNM1,^{[7][8][9][10][11]} Phospholipase D1,^[12] CDK5R1,^[13] PLD2,^[12] CABIN1^[14] and SH3GL2.^[7][15]

See also

• AP180
• Epsin