Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	273
Gene name	Amphiphysin
Gene symbol	AMPH
Synonyms (NCBI Gene)	AMPH1
Chromosome	7
Chromosome location	7p14.1
Summary	This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this

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miRTarBase ID	miRNA	Experiments	Reference
MIRT052112	hsa-let-7b-5p	CLASH	23622248
MIRT052112	hsa-let-7b-5p	CLASH	23622248
MIRT780644	hsa-miR-129-5p	CLIP-seq
MIRT780645	hsa-miR-3652	CLIP-seq
MIRT780646	hsa-miR-4423-3p	CLIP-seq
MIRT780647	hsa-miR-4430	CLIP-seq
MIRT780648	hsa-miR-4505	CLIP-seq
MIRT780649	hsa-miR-450b-5p	CLIP-seq
MIRT780650	hsa-miR-4643	CLIP-seq
MIRT780651	hsa-miR-4659a-5p	CLIP-seq
MIRT780652	hsa-miR-4659b-5p	CLIP-seq
MIRT780653	hsa-miR-4776-3p	CLIP-seq
MIRT780654	hsa-miR-4803	CLIP-seq
MIRT780655	hsa-miR-507	CLIP-seq
MIRT780656	hsa-miR-557	CLIP-seq
MIRT780657	hsa-miR-570	CLIP-seq
MIRT780658	hsa-miR-600	CLIP-seq
MIRT780657	hsa-miR-570	CLIP-seq
MIRT2473789	hsa-miR-493	CLIP-seq
MIRT2473790	hsa-miR-548ac	CLIP-seq
MIRT2473791	hsa-miR-548ae	CLIP-seq
MIRT2473792	hsa-miR-548aj	CLIP-seq
MIRT2473793	hsa-miR-548am	CLIP-seq
MIRT2473794	hsa-miR-548d-3p	CLIP-seq
MIRT2473795	hsa-miR-548x	CLIP-seq
MIRT2473796	hsa-miR-548z	CLIP-seq
MIRT2674979	hsa-miR-3120-3p	CLIP-seq
MIRT780645	hsa-miR-3652	CLIP-seq
MIRT780647	hsa-miR-4430	CLIP-seq
MIRT780648	hsa-miR-4505	CLIP-seq
MIRT2674980	hsa-miR-4522	CLIP-seq
MIRT780653	hsa-miR-4776-3p	CLIP-seq
MIRT2473789	hsa-miR-493	CLIP-seq
MIRT2473790	hsa-miR-548ac	CLIP-seq
MIRT2473791	hsa-miR-548ae	CLIP-seq
MIRT2473792	hsa-miR-548aj	CLIP-seq
MIRT2473793	hsa-miR-548am	CLIP-seq
MIRT2473794	hsa-miR-548d-3p	CLIP-seq
MIRT2473795	hsa-miR-548x	CLIP-seq
MIRT2473796	hsa-miR-548z	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17762867, 20946875, 21044950, 25416956, 27956147, 31413325, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005543	Function	Phospholipid binding	IBA
GO:0005543	Function	Phospholipid binding	IDA	22750946
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006897	Process	Endocytosis	TAS	9182667
GO:0007268	Process	Chemical synaptic transmission	TAS	9182667
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008021	Component	Synaptic vesicle	TAS	1628617
GO:0015629	Component	Actin cytoskeleton	TAS	9182667
GO:0016020	Component	Membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031256	Component	Leading edge membrane	IDA	22750946
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0048488	Process	Synaptic vesicle endocytosis	IBA

MIM	HGNC	e!Ensembl
600418	471	ENSG00000078053

P49418

Protein name

Amphiphysin

Protein function

May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.

PDB

1KY7 , 1UTC , 3SOG , 4ATM , 5M5S , 5M61

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03114	BAR	13 → 233	BAR domain	Domain
PF14604	SH3_9	629 → 692	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Neurons, certain endocrine cell types and spermatocytes.

Sequence

MADIKTGIFAKNVQKRLNRAQEKVLQKLGKADETKDEQFEEYVQNFKRQEAEGTRLQREL
RGYLAAIKGMQEASMKLTESLHEVYEPDWYGREDVKMVGEKCDVLWEDFHQKLVDGSLLT
LDTYLGQFPDIKNRIAKRSRKLVDYDSARHHLEALQSSKRKDESRISKAEEEFQKAQKVF
EEFNVDLQEELPSLWSRRVGFYVNTFKNVSSLEAKFHKEIAVLCHKLYEVMTKLGDQHAD
KAFTIQGAPSDSGPLRIAKTPSPPEEPSPLPSPTASPNHTLAPASPAPARPRSPSQTRKG
PPVPPLPKVTPTKELQQENIISFFEDNFVPEISVTTPSQNEVPEVKKEETLLDLDFDPFK
PEVTPAGSAGVTHSPMSQTLPWDLWTTSTDLVQPASGGSFNGFTQPQDTSLFTMQTDQSM
ICNLAESEQAPPTEPKAEEPLAAVTPAVGLDLGMDTRAEEPVEEAVIIPGADADAAVGTL
VSAAEGAPGEEAEAEKATVPAGEGVSLEEAKIGTETTEGAESAQPEAEELEATVPQEKVI
PSVVIEPASNHEEEGENEITIGAEPKETTEDAAPPGPTSETPELATEQKPIQDPQPTPSA
PAMGAADQLASAREASQELPPGFLYKVETLHDFEAANSDELTLQRGDVVLVVPSDSEADQ
DAGWLVGVKESDWLQYRDLATYKGLFPENFTRRLD

Sequence length

695

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Fc gamma R-mediated phagocytosis		Clathrin-mediated endocytosis

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Lung cancer	Benign	rs17171345	RCV005903532
Thymoma	Benign	rs17171345	RCV005903531

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Stimulate	29870637
Breast Neoplasms	Associate	36685551
Carcinoid Tumor	Stimulate	36685551
Carcinoma Ductal	Associate	34031061
Encephalitis	Stimulate	36685551
Lymphoma Follicular	Associate	19530241
Paraneoplastic Syndromes	Associate	18971449
Paraneoplastic Syndromes	Stimulate	36685551
Paraneoplastic Syndromes Nervous System	Associate	36685551
Progressive Encephalomyelitis with Rigidity	Associate	39213470
Small Cell Lung Carcinoma	Associate	34031061
Stiff Person Syndrome	Associate	18971449, 29870637, 34031061, 36685551
Stomach Diseases	Associate	26269563

AMPH (amphiphysin)