Wiskott–Aldrich syndrome protein family member 1, also known as WASP-family verprolin homologous protein 1 (WAVE1), 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, respon ...
that in humans is encoded by the ''WASF1''
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
The protein encoded by this gene, a member of the Wiskott–Aldrich syndrome protein (WASP) family, plays a critical role downstream of
Rac
RAC or Rac may refer to:
Organizations
* Radio Amateurs of Canada
* RATCH-Australia Corporation, electricity generator
* Refugee Action Collective (Victoria), Melbourne, Australia
* Religious Action Center of Reform Judaism, US
* Rent-A-Center, ...
, a Rho-family small
GTPase
GTPases are a large family of hydrolase enzymes that bind to the nucleotide guanosine triphosphate (GTP) and hydrolyze it to guanosine diphosphate (GDP). The GTP binding and hydrolysis takes place in the highly conserved P-loop "G domain", a ...
, through its involvement in the
WAVE regulatory complex The WAVE regulatory complex (WRC, SCAR complex) is a five-subunit protein complex in the Wiskott-Aldrich syndrome protein (WASP) family involved in the formation of the actin cytoskeleton through interaction with the Arp2/3 complex. The holocomplex ...
in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an
actin nucleation core
An actin nucleation core is a protein trimer with three actin monomers. It is called a nucleation core because it leads to the energetically favorable elongation reaction once a tetramer is formed from a trimer. Actin protein dimers and trimer ...
Arp2/3 complex
Arp2/3 complex (Actin Related Protein 2/3 complex) is a seven-subunit protein complex that plays a major role in the regulation of the actin cytoskeleton. It is a major component of the actin cytoskeleton and is found in most actin cytoskeleton ...
while enhancing actin polymerization in vitro.
Clinical significance
Wiskott–Aldrich syndrome
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the ecz ...
is a
disease of the immune system, likely due to defects in regulation of
actin
Actin is a protein family, family of Globular protein, globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in myofibril, muscle fibrils. It is found in essentially all Eukaryote, eukaryotic cel ...
cytoskeleton
The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane and is comp ...
.
Interactions
WASF1 has been shown to
interact with
BAIAP2
Brain-specific angiogenesis inhibitor 1-associated protein 2 is a protein that in humans is encoded by the ''BAIAP2'' gene.
Function
The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor ( BAI1)-bindin ...
and
Profilin 1.
References
Further reading
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