Epidermal growth factor receptor kinase substrate 8 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''EPS8''
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 ba ...
.
Function
This gene encodes a member of the EPS8 family. This protein contains one
PH domain
In chemistry, pH (), historically denoting "potential of hydrogen" (or "power of hydrogen"), is a scale used to specify the acidity or basicity of an aqueous solution. Acidic solutions (solutions with higher concentrations of ions) are mea ...
and one
SH3 domain
The SRC Homology 3 Domain (or SH3 domain) is a small protein domain of about 60 amino acid residues. Initially, SH3 was described as a conserved sequence in the viral adaptor protein v-Crk. This domain is also present in the molecules of phos ...
. It functions as part of the
EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated
actin
Actin is a family of globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in muscle fibrils. It is found in essentially all eukaryotic cells, where it may be present at a concentration of over ...
remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.
Clinical significance
Mutations in EPS8 cause
congenital deafness
Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spoken la ...
.
Interactions
EPS8 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:
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ABI1
Abl interactor 1 also known as Abelson interactor 1 (Abi-1) is a protein that in humans is encoded by the ''ABI1'' gene.
Function
Abl interactor 1 has been found to form a complex with EPS8 and SOS1, and is thought to be involved in the trans ...
,
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 ...
,DVL1
Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the ''DVL1'' gene.
Function
DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell p ...
,SHC1
SHC-transforming protein 1 is a protein that in humans is encoded by the ''SHC1'' gene. SHC has been found to be important in the regulation of apoptosis and drug resistance in mammalian cells.
SCOP classifies the 3D structure as belonging to th ...
SOS1
Son of sevenless homolog 1 is a protein that in humans is encoded by the ''SOS1'' gene.
Function
SOS1 is a guanine nucleotide exchange factor (GEF) which interacts with RAS proteins to phosphorylate GDP into GTP, or from an inactive state to an ...
,
References
Further reading
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{{PDB Gallery, geneid=2059