Amphiphysin

Amphiphysin
Rendering of 1KY7
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1KY7, 1UTC, 3SOG, 4ATM
Identifiers
Symbols	AMPH ; AMPH1
External IDs	OMIM: 600418 MGI: 103574 HomoloGene: 121585 GeneCards: AMPH Gene
Gene ontology Molecular function • protein binding • phospholipid binding Cellular component • synaptic vesicle • actin cytoskeleton • cell junction • synaptic vesicle membrane • leading edge membrane Biological process • endocytosis • synaptic transmission • learning • synaptic vesicle endocytosis Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE AMPH 205257 s at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	273	218038
Ensembl	ENSG00000078053	ENSMUSG00000021314
UniProt	P49418	Q7TQF7
RefSeq (mRNA)	NM_001635	NM_001289546
RefSeq (protein)	NP_001626	NP_001276475
Location (UCSC)	Chr 7: 38.38 – 38.63 Mb	Chr 13: 18.95 – 19.15 Mb
PubMed search	[1]	[2]

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.

Interactions

Amphiphysin has been shown to interact with DNM1, Phospholipase D1, CDK5R1, PLD2, CABIN1 and SH3GL2.

See also

• AP180
• Epsin

Further reading

• Review.

External links

• Bringing your curves to the bar, amphiphysin home page