Gene Report

Basic Information

Approved Symbol	AMPH
Approved Name	amphiphysin
Previous Name	amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"
Location	7p14-p13
Position	chr7:38423297-38671167 (-)
External Links	Entrez Gene: 273 Ensembl: ENSG00000078053 UCSC: uc003tgu.3 HGNC ID: 471
No. of Studies (Positive/Negative)	1(1/0)
Type	Literature-origin; Protein mapped

Positive relationships between AMPH and MDD (count: 1)

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
AMPH	Guilloux JP, 2012	patients and normal controls		genes significantly affected in female MDD subjects genes significantly affected in female MDD subjects

Positive relationships between AMPH and other components at different levels (count: 0)

Positive relationship network of AMPH in MK4MDD

Network loading ...

Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Negative relationships between AMPH and MDD (count: 0)

Negative relationships between AMPH and other components at different levels (count: 0)

AMPH related SNPs in MK4MDD (count: 0)

AMPH related proteins in MK4MDD (count: 1)

Approved Name	UniportKB	No. of Studies (Positive/Negative)	Source
Amphiphysin	P49418	1(1/0)	Literature-origin

AMPH related GO terms (count: 10)

ID	Name	Type	Evidence
Literature-origin GO terms
GO:0008021	synaptic vesicle	cellular component	TAS[1628617]
GO:0030054	cell junction	cellular component	IEA
GO:0007268	synaptic transmission	biological process	TAS[9182667]

ID	Name	Type	Evidence
Gene mapped GO terms
GO:0015629	actin cytoskeleton	cellular component	TAS[9182667]
GO:0019904	protein domain specific binding	molecular function	IEA
GO:0030672	synaptic vesicle membrane	cellular component	IEA
GO:0005515	protein binding	molecular function	IPI
GO:0007612	learning	biological process	IEA
GO:0006897	endocytosis	biological process	TAS[9182667]
GO:0048488	synaptic vesicle endocytosis	biological process	IEA

AMPH related KEGG pathways (count: 1)

ID	Name	Brief Description	Full Description
Gene mapped KEGG pathways
hsa04666	fc gamma_r_mediated_phagocytosis	Fc gamma R-mediated phagocytosis	Phagocytosis plays an essential role in host-defense mechani...... Phagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes take part in this process in higher organisms. After opsonization with antibodies (IgG), foreign extracellular materials are recognized by Fc gamma receptors. Cross-linking of Fc gamma receptors initiates a variety of signals mediated by tyrosine phosphorylation of multiple proteins, which lead through the actin cytoskeleton rearrangements and membrane remodeling to the formation of phagosomes. Nascent phagosomes undergo a process of maturation that involves fusion with lysosomes. The acquisition of lysosomal proteases and release of reactive oxygen species are crucial for digestion of engulfed materials in phagosomes. More...

AMPH related BioCarta pathways (count: 1)

ID	Name	Brief Description	Full Description
Gene mapped BioCarta pathways
NDKDYNAMIN_PATHWAY	ndkdynamin pathway	Endocytotic role of NDK, Phosphins and Dynamin	Reliable neurotransmitter release requires the presence of s...... Reliable neurotransmitter release requires the presence of sufficent numbers of synaptic vesicles. The process of synaptic vesicle endocytosis (SVE) is coordinated by a group of proteins called dephosphins. The current set of seven known dephosphins are nerve treminal proteins with little or no structural hoimology but satisfy two essential criteria: they are essential for SVE and they are rapidly and coordinately dephosphorlyated in response to a calcium influx through voltage-dependent calicium channels. The calicium signal is mediated by calmodulin (CaM) and calcineurin. Each dephosphin plays an essential role in overlapping phases or segments of the cycle. The four phases of SVE are nucleation, invagination, fission and uncoating. In this diagram the internalization of the vesicle is the uncoating step. In order to illustrate the complexity of this process the initial display of the protein is labelled with a name and a number. This number is then used at the decloaking or uncoating step to show the release and seperation of the various factors. Each step in the process has a different set of complex components. The components are shown in highlighted boxes above. The nucleation phase initiates with the activation of CaM/Calcineurin and the subsequent dephosphorylation of AP180. AP180 and clathrin are then recruited to the membrane by AP2 and PtdIns(4,5)P2 (comma shaped molecule in the diagram). Nucleation is completed by the addition of epsin and eps15. Invagination proceeds with the formation of the amphiphysin1/2 heterodimer and its addition to the maturing vesicle surface complexes. The final components, dynamin and synaptojanin, are recruited to the budding vesicle by the amphiphysin1/2 heterodimer. Dynamin forms a complete ring around the vesicle neck and completes fission via its PtdIns(4,5)P2 stimulated GTPase activity. After internalization the vesicle is quickly uncoated, in a process believed to be mediated by synaptojanin, and is accompnied by the disassembly of clathrin. More...

AMPH related Reactome pathways (count: 0)

AMPH related interactors from protein-protein interaction data in HPRD (count: 17)

Gene	Interactor	Interactor in MK4MDD?	Experiment Type	PMID
AMPH	AMPH	Yes	in vitro;in vivo	10899172 , 14529717
AMPH	SH3GLB1	No	in vitro	12456676
AMPH	CLTC	No	in vitro;in vivo	9280305 , 9603201 , 9195986
AMPH	CDK5	No	in vitro	11113134
AMPH	NECAP1	No	in vitro;in vivo	17762867
AMPH	PLD2	No	in vitro	10764771
AMPH	SYNJ1	No	in vitro	10542231 , 14704270
AMPH	SYN1	Yes	in vitro;in vivo	10899172
AMPH	VTN	No	in vitro	12565847
AMPH	BIN1	Yes	in vitro;in vivo	9348539
AMPH	AP2A2	No	in vitro	8552632 , 9195986 , 10748223
AMPH	CABIN1	No	in vitro;in vivo	10931822
AMPH	SH3GL2	No	in vitro	9315708
AMPH	CDK1	No	in vitro	11113134
AMPH	DNM2	No	in vitro	15834155 , 16696976
AMPH	DNM1	No	in vitro	10899172 , 11877424 , 9694653 , 9148966 , 9348539 , 15834155
AMPH	CDK5R1	No	in vitro;in vivo	11113134

Gene Report

Literature-origin GO terms

Gene mapped GO terms

Gene mapped KEGG pathways

Gene mapped BioCarta pathways