Amphiphysin is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''AMPH''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with
stiff person syndrome
Stiff-person syndrome (SPS), also known as stiff-man syndrome (SMS), is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. The stiffness primarily affects the truncal muscles and is superimposed by s ...
who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined.
Amphiphysin is a brain-enriched
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
with an N-terminal
lipid
Lipids are a broad group of naturally-occurring molecules which includes fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E and K), monoglycerides, diglycerides, phospholipids, and others. The functions of lipids includ ...
interaction, dimerisation and
membrane
A membrane is a selective barrier; it allows some things to pass through but stops others. Such things may be molecules, ions, or other small particles. Membranes can be generally classified into synthetic membranes and biological membranes. ...
bending
BAR domain
In molecular biology, BAR domains are highly conserved protein dimerisation domains that occur in many proteins involved in membrane dynamics in a cell. The BAR domain is banana-shaped and binds to membrane via its concave face. It is cap ...
, a middle
clathrin
Clathrin is a protein that plays a major role in the formation of coated vesicles. Clathrin was first isolated and named by Barbara Pearse in 1976. It forms a triskelion shape composed of three clathrin heavy chains and three light chains. When ...
and adaptor binding domain and a C-terminal SH3 domain. In the brain, its primary function is thought to be the recruitment of
dynamin
Dynamin is a GTPase responsible for endocytosis in the eukaryotic cell. Dynamin is part of the "dynamin superfamily
Dynamin Superfamily Protein (DSP) is a protein superfamily includes classical dynamins, GBPs, Mx proteins, OPA1, mitofusins i ...
to sites of clathrin-mediated
endocytosis. There are 2 mammalian amphiphysins with similar overall structure. A ubiquitous splice form of amphiphysin-2 (
BIN1
Myc box-dependent-interacting protein 1, also known as Bridging Integrator-1 and Amphiphysin-2 is a protein that in humans is encoded by the ''BIN1'' gene.
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which w ...
) that does not contain clathrin or adaptor interactions is highly expressed in
muscle tissue and is involved in the formation and stabilization of the T-tubule network. In other tissues amphiphysin is likely involved in other membrane bending and curvature stabilization events.
Interactions
Amphiphysin has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
DNM1
Dynamin-1 is a protein that in humans is encoded by the ''DNM1'' gene.
Function
This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and s ...
,
Phospholipase D1
Phospholipase D1 (PLD1) is an enzyme that in humans is encoded by the ''PLD1'' gene, though analogues are found in plants, fungi, prokaryotes, and even viruses.
History
The possibility of PLD1 was first mentioned in 1947 by authors Hanahan and C ...
,
CDK5R1
Cyclin-dependent kinase 5 activator 1 is an enzyme that in humans is encoded by the ''CDK5R1'' gene.
Function
The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is ...
,
PLD2
Phospholipase D2 is an enzyme that in humans is encoded by the ''PLD2'' gene.
Function
Phosphatidylcholine (PC)-specific phospholipases D (PLDs) catalyze the hydrolysis of PC to produce phosphatidic acid and choline. Activation of PC-specifi ...
,
[ ]CABIN1
Calcineurin-binding protein cabin-1 is a protein that in humans is encoded by the ''CABIN1'' gene.
Function
Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds ...
SH3GL2
Endophilin-A1 is a protein that in humans is encoded by the ''SH3GL2'' gene.
Interactions
SH3GL2 has been shown to interact
Advocates for Informed Choice, doing business as, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)( ...
.
See also
* AP180
* Epsin Epsins are a family of highly conserved membrane proteins that are important in creating membrane curvature. Epsins contribute to membrane deformations like endocytosis, and block vesicle formation during mitosis.
Structure
Epsin contains vari ...
References
Further reading
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External links
Bringing your curves to the bar, amphiphysin home page
* {{UCSC gene info, AMPH
Proteins