GNAS
GNAS is a complex imprinted locus that gives rise to the stimulatory G-protein alpha subunit and to neuroendocrine secretory protein 55 (NESP55), among other products. It is also known as NESP, GNASXL, GPSA, SCG6, SgVI and GNAS1. Browse Assay Genie's current range of GNAS research reagents below, or read on for the biology behind the target.
The GNAS locus has a highly complex imprinted expression pattern. It produces maternally, paternally and biallelically expressed transcripts from four alternative promoters and 5' exons. Some transcripts carry a differentially methylated region (DMR) at their 5' exons, a feature common to imprinted genes that correlates with transcript expression. An antisense transcript is made from an overlapping locus on the opposite strand. One transcript from the locus, together with the antisense transcript, is a paternally expressed noncoding RNA and may regulate imprinting in the region.
The protein listed under this entry, neuroendocrine secretory protein 55, belongs to the NESP55 family and is found in secretory vesicles and in the secreted fraction. HGNC places the gene in two groups: the granins, and the G protein subunits alpha, group s. Alternative splicing of downstream exons yields different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway that links receptor-ligand interactions to activation of adenylyl cyclase and a variety of cellular responses. One transcript also contains a second overlapping ORF encoding Alex, a structurally unrelated protein. Multiple transcript variants encoding different isoforms have been described, so researchers working with the GNAS gene or GNAS protein should consider which product they need to study.
The previous HGNC name was guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1. Mutations in this gene cause pseudohypoparathyroidism type 1a and type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseous heteroplasia and polyostotic fibrous dysplasia of bone. They are also associated with some pituitary tumours.
The locus yields maternally, paternally and biallelically expressed transcripts and carries a DMR, making it a reference model for imprinting regulation.
Spliced forms encode the stimulatory G-protein alpha subunit, which links receptor-ligand interactions to adenylyl cyclase activation.
Mutations underlie pseudohypoparathyroidism, Albright hereditary osteodystrophy, McCune-Albright syndrome and fibrous dysplasia of bone.
NESP55 is a granin-group protein located in secretory vesicles and the secreted fraction, relevant to neuroendocrine research.
The GNAS locus encodes several products. Alternative splicing gives forms of the stimulatory G-protein alpha subunit, which connects receptor-ligand interactions to adenylyl cyclase activation. The locus also encodes neuroendocrine secretory protein 55 and the unrelated protein Alex, plus noncoding RNAs that may regulate imprinting.
Aliases include NESP55, NESP, GNASXL, GPSA, SCG6, SgVI and GNAS1. The earlier HGNC name was guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1. Multiple transcript variants encode different isoforms, so the name used often reflects the product being studied.
Mutations cause pseudohypoparathyroidism types 1a and 1b, Albright hereditary osteodystrophy, McCune-Albright syndrome and progressive osseous heteroplasia, and are linked to some pituitary tumours. Mouse and rat both have a Gnas ortholog; check the datasheet of any product for its validated reactivity.
Other G protein subunits, adenylyl cyclase pathway components and endocrine signalling targets with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt O95467; product specifications from Assay Genie datasheets.