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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''HSPA9''
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 product encoded by this gene belongs to the
heat shock protein 70
The 70 kilodalton heat shock proteins (Hsp70s or DnaK) are a family of conserved ubiquitously expressed heat shock proteins. Proteins with similar structure exist in virtually all living organisms. Intracellularly localized Hsp70s are an import ...
family which contains both heat-inducible and
constitutively expressed
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. The ...
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 r ...
. It may also act as a
chaperone.
Interactions
HSPA9 has been shown to
interact
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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- glyco ...
and
P53
p53, also known as Tumor protein P53, cellular tumor antigen p53 (UniProt name), or transformation-related protein 53 (TRP53) is a regulatory protein that is often mutated in human cancers. The p53 proteins (originally thought to be, and often s ...
.
Clinical relevance and genetic deficiency
In 2015, a group around
Andrea Superti-Furga
Andrea Superti-Furga (born 1959 in Milan) is a Swiss-Italian pediatrician, geneticist and molecular biologist. He is the head of the Division of Genetic Medicine at the Lausanne University Hospital (CHUV) and a professor at the Faculty of Medicin ...
showed that biallelic variants in the ''HSPA9'' gene may result in a combination of
congenital malformation
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities c ...
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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