AMPH (amphiphysin)

Gene

• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 600418
• HGNC: 471
• e!Ensembl: ENSG00000078053

Protein

• UniProt ID: 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

Pathways

KEGG:

Endocytosis
Fc gamma R-mediated phagocytosis

Reactome:

Clathrin-mediated endocytosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	23871436		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25497732		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28910145, 29211967, 30575407		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31624089, 7757077, 9513187		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune Nervous System Disorder	BEFREE	7757077		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	BEFREE	17676042, 21129173		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30699853		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29937937, 30143925, 9513187		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29870637	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36685551	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	36685551	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	34031061	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30143925		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	20434914, 20927630, 23754947, 25262827, 29130937, 30894500		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	11879655		★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	BEFREE	30894500		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16733250		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29097081		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	36685551	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	17914114		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	11879655		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16671079		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19530241	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	19530241		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29937937, 30143925, 9513187		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30143925		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	8782822, 9513187		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30143925		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23754947, 24569368, 26506308		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	BEFREE	17676042, 21129173		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	25262827		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29937937, 30143925		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31624089		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31685299		★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	31819629		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31819629		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	18971449	Associate	★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	36685551	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	31624089		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34031061	Associate	★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	29097081, 31000408		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26269563	Associate	★☆☆☆☆ Found in Text Mining only