cAMP-dependent protein kinase type I-alpha regulatory subunit 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 ''PRKAR1A''
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
cAMP
Camp may refer to:
Outdoor accommodation and recreation
* Campsite or campground, a recreational outdoor sleeping and eating site
* a temporary settlement for nomads
* Camp, a term used in New England, Northern Ontario and New Brunswick to descri ...
is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase A (
PKA), which transduces the signal through
phosphorylation
In chemistry, phosphorylation is the attachment of a phosphate group to a molecule or an ion. This process and its inverse, dephosphorylation, are common in biology and could be driven by natural selection. Text was copied from this source, wh ...
of different target proteins. The inactive holoenzyme of PKA is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of PKA have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids Three alternatively spliced transcript variants encoding the same protein have been observed.
Clinical significance
Functional null mutations in this gene cause
Carney complex
Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity. It is distinct from Carney's triad ...
(CNC), an autosomal dominant multiple neoplasia syndrome. This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2.
Mutation of PRKAR1A leads to the Carney complex, associating multiple endocrine tumors.
Interactions
PRKAR1A has been shown to
interact
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with:
*
AKAP10,
*
AKAP1
A kinase anchor protein 1, mitochondrial is an enzyme that in humans is encoded by the ''AKAP1'' gene.
Function
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins that have the common function of binding to the ...
,
*
AKAP4
A-kinase anchor protein 4 is a scaffold protein that in humans is encoded by the ''AKAP4'' gene. It involves in the intracellular signalling of protein kinase -A. AKAP4 is called as cancer /testis antigen (CTA), it belongs to a class of tumour lin ...
,
*
ARFGEF1
Brefeldin A-inhibited guanine nucleotide-exchange protein 1 is a protein that in humans is encoded by the ''ARFGEF1'' gene.
Function
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein enc ...
,
*
ARFGEF2,
[
* Grb2,]MYO7A
Myosin VIIA is protein that in humans is encoded by the ''MYO7A'' gene. Myosin VIIA is a member of the unconventional myosin superfamily of proteins. Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inor ...
,UBE2M
NEDD8-conjugating enzyme Ubc12 is a protein that in humans is encoded by the ''UBE2M'' gene.
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitin ...
.
See also
*cAMP-dependent protein kinase
In cell biology, protein kinase A (PKA) is a family of enzymes whose activity is dependent on cellular levels of cyclic AMP (cAMP). PKA is also known as cAMP-dependent protein kinase (). PKA has several functions in the cell, including regulatio ...
References
Further reading
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External links
PDBe-KB
provides an overview of all the structure information available in the PDB for Human cAMP-dependent protein kinase type I-alpha regulatory subunit (PRKAR1A)
{{NLM content
Signal transduction