AMPH (amphiphysin)

2003-06-01  

Identity

HGNC
LOCATION
7p14.1
LOCUSID
ALIAS
AMPH1
FUSION GENES

Other Information

Locus ID:

NCBI: 273
MIM: 600418
HGNC: 471
Ensembl: ENSG00000078053

Variants:

dbSNP: 273
ClinVar: 273
TCGA: ENSG00000078053
COSMIC: AMPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078053ENST00000325590P49418
ENSG00000078053ENST00000356264P49418
ENSG00000078053ENST00000441628H0Y7T8
ENSG00000078053ENST00000450124H0Y5S4

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Fc gamma R-mediated phagocytosisKEGGko04666
Fc gamma R-mediated phagocytosisKEGGhsa04666
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
182069072008Characterization of domain-peptide interaction interface: a case study on the amphiphysin-1 SH3 domain.34
265063082015Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.21
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
167332502006Phosphorylation of amphiphysin I by minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase, a kinase implicated in Down syndrome.17
293572762018Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis.10
223313042012Human IgG directed against amphiphysin induces anxiety behavior in a rat model after intrathecal passive transfer.8
229758462012Amphiphysin-1 protein level changes associated with tau-mediated neurodegeneration.8
166710792006Antiamphiphysin-positive stiff-person syndrome associated with small cell lung cancer.6
188143092008Modeling and prediction of binding affinities between the human amphiphysin SH3 domain and its peptide ligands using genetic algorithm-Gaussian processes.4

Citation

Dessen P

AMPH (amphiphysin)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/633/amph