AMPH

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
Gene location (Human) Chr. Chromosome 7 (human) Band 7p14.1 Start 38,383,704 bp End 38,631,567 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 A2|13 6.89 cM Start 18,948,205 bp End 19,150,921 bp
RNA expression pattern 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 Biological process • endocytosis • chemical synaptic transmission • membrane organization 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 7: 18.95 – 19.15 Mb
PubMed search

1KY7, 1UTC, 3SOG, 4ATM

273

218038

ENSG00000078053

ENSMUSG00000021314

P49418

Q7TQF7

NM_001635
NM_139316

NM_175007
NM_001289546

NP_001626
NP_647477

NP_001276475
NP_778172

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.

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