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
375568882023Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy related to primary central nervous system lymphoma: A case report.0
375568882023Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy related to primary central nervous system lymphoma: A case report.0
340189222021Amphiphysin I cleavage by asparagine endopeptidase leads to tau hyperphosphorylation and synaptic dysfunction.7
340189222021Amphiphysin I cleavage by asparagine endopeptidase leads to tau hyperphosphorylation and synaptic dysfunction.7
324762712020AMPH1 functions as a tumour suppressor in ovarian cancer via the inactivation of PI3K/AKT pathway.0
324762712020AMPH1 functions as a tumour suppressor in ovarian cancer via the inactivation of PI3K/AKT pathway.0
301439252019AMPH-1 is a tumor suppressor of lung cancer by inhibiting Ras-Raf-MEK-ERK signal pathway.6
301439252019AMPH-1 is a tumor suppressor of lung cancer by inhibiting Ras-Raf-MEK-ERK signal pathway.6
293572762018Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis.26
293572762018Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis.26
265063082015Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.41
265063082015Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.41
250875592014[Anti-amphiphysin antibody-positive paraneoplastic neurological syndrome with a longitudinally extensive spinal cord lesion of the dorsal column].1
250875592014[Anti-amphiphysin antibody-positive paraneoplastic neurological syndrome with a longitudinally extensive spinal cord lesion of the dorsal column].1
223313042012Human IgG directed against amphiphysin induces anxiety behavior in a rat model after intrathecal passive transfer.18

Citation

Dessen P

AMPH (amphiphysin)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

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