Mitochondrial 70kDa heat shock protein (mtHsp70), also known as mortalin, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''HSPA9''
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
The product encoded by this gene belongs to the
heat shock protein 70 family which contains both heat-inducible and
constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein plays a role in the control of
cell proliferation
Cell proliferation is the process by which ''a cell grows and divides to produce two daughter cells''. Cell proliferation leads to an exponential increase in cell number and is therefore a rapid mechanism of tissue growth. Cell proliferation ...
. It may also act as a
chaperone.
Interactions
HSPA9 has been shown to
interact with
FGF1
Fibroblast growth factor 1 (FGF-1) also known as acidic fibroblast growth factor (aFGF), is a growth factor and signaling protein encoded by the ''FGF1'' gene. It is synthesized as a 155 amino acid polypeptide, whose mature form is a non- glyc ...
and
P53
p53, also known as tumor protein p53, cellular tumor antigen p53 (UniProt name), or transformation-related protein 53 (TRP53) is a regulatory transcription factor protein that is often mutated in human cancers. The p53 proteins (originally thou ...
.
Clinical relevance and genetic deficiency
In 2015, a group around
Andrea Superti-Furga showed that biallelic variants in the ''HSPA9'' gene may result in a combination of
congenital malformation
A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...
s called the EVEN-PLUS syndrome.
These genetic variants have been shown to interfere with normal HSPA9 function
References
Further reading
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External links
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PDBe-KBprovides an overview of all the structure information available in the PDB for Human Stress-70 protein, mitochondrial
Heat shock proteins
Molecular chaperones
Mitochondrial proteins
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