GNAS1
Encyclopedia
GNAS complex locus, also known as GNAS, is a protein
which in humans is encoded by the GNAS gene
. The protein encoded by this gene is the stimulatory G-protein alpha subunit (Gs-α
), a key component of many signal transduction
pathways.
has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript exists, and this antisense transcript and one of the transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein.
The GNAS locus is imprinted and encodes 5 main transcripts:
), a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular responses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined.
type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome
, progressive osseus heteroplasia, polyostotic fibrous dysplasia
of bone, and some pituitary tumors.
Deficiencies are associated with:
with RIC8A
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the GNAS gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. The protein encoded by this gene is the stimulatory G-protein alpha subunit (Gs-α
Gs alpha subunit
The Gs alpha subunit is a heterotrimeric G protein subunit that activates the cAMP-dependent pathway by activating adenylate cyclase.-Receptors:The G protein-coupled receptors that couple to this kind of G-protein include:...
), a key component of many signal transduction
Signal transduction
Signal transduction occurs when an extracellular signaling molecule activates a cell surface receptor. In turn, this receptor alters intracellular molecules creating a response...
pathways.
Gene
This gene locusLocus (genetics)
In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript exists, and this antisense transcript and one of the transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein.
The GNAS locus is imprinted and encodes 5 main transcripts:
- Gs-αGs alpha subunitThe Gs alpha subunit is a heterotrimeric G protein subunit that activates the cAMP-dependent pathway by activating adenylate cyclase.-Receptors:The G protein-coupled receptors that couple to this kind of G-protein include:...
- XLAS
- NESP55
- A/B transcript
- antisense GNAS transcript
Protein
Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit (Gs-αGs alpha subunit
The Gs alpha subunit is a heterotrimeric G protein subunit that activates the cAMP-dependent pathway by activating adenylate cyclase.-Receptors:The G protein-coupled receptors that couple to this kind of G-protein include:...
), a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular responses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined.
Clinical significance
Mutations in this gene result in pseudohypoparathyroidismPseudohypoparathyroidism
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is actually appropriately high...
type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome
McCune-Albright syndrome
McCune–Albright syndrome, described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty.-Symptoms:...
, progressive osseus heteroplasia, polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone.The McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation....
of bone, and some pituitary tumors.
Deficiencies are associated with:
- Albright hereditary osteodystrophy
- pseudohypoparathyroidismPseudohypoparathyroidismPseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is actually appropriately high...
type Ia - pseudopseudohypoparathyroidismPseudopseudohypoparathyroidismPseudopseudohypoparathyroidism is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation...
- McCune-Albright syndromeMcCune-Albright syndromeMcCune–Albright syndrome, described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty.-Symptoms:...
Interactions
GNAS complex locus has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with RIC8A
RIC8A
Synembryn-A is a protein that in humans is encoded by the RIC8A gene.-Interactions:RIC8A has been shown to interact with GNAO1, GNA13, GNAQ, GNAS complex locus, GNAI2, GNAI1 and GNAI3.-Further reading:...
.