Epidermal growth factor receptor kinase substrate 8 is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''EPS8''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
This gene encodes a member of the EPS8 family. This protein contains one
PH domain
Pleckstrin homology domain (PH domain) or (PHIP) is a protein domain of approximately 120 amino acids that occurs in a wide range of proteins involved in intracellular signaling or as constituents of the cytoskeleton.
This domain can bind phosph ...
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 ph ...
. 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 ...
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 spok ...
.
Interactions
EPS8 has been shown to
interact with:
*
ABI1,
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 regulate ...
,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
A ( or ) was a poet as represented in Old ...
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 protein, Ras proteins to phosphorylate GDP into GTP, or from an inacti ...
,
References
Further reading
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{{PDB Gallery, geneid=2059