GNAS Complex Locus (GNAS) Peptide
GNAS
Reactivity: Human
Host: Synthetic
BP, WB
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- Target See all GNAS products
- GNAS (GNAS Complex Locus (GNAS))
- Origin
- Human
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Source
- Synthetic
- Application
- Blocking Peptide (BP), Western Blotting (WB)
- Characteristics
- This is a synthetic peptide designed for use in combination with anti-GNAS antibody (Catalog #: ARP41764_T100). It may block above mentioned antibody from binding to its target protein in western blot and/or immunohistochecmistry under proper experimental settings. There is no guarantee for its use in other applications.
- Purification
- Purified
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- Application Notes
- Each Investigator should determine their own optimal working dilution for specific applications.
- Restrictions
- For Research Use only
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- Format
- Lyophilized
- Reconstitution
- Add 100 μL of sterile PBS. Final peptide concentration is 1 mg/mL in PBS.
- Concentration
- 1 mg/mL
- Buffer
- Final peptide concentration is 1 mg/mL in PBS.
- Handling Advice
- Avoid repeated freeze-thaw cycles.
- Storage
- -20 °C
- Storage Comment
- For longer periods of storage, store at -20°C. Avoid repeat freeze-thaw cycles.
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- Target
- GNAS (GNAS Complex Locus (GNAS))
- Background
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Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.This gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5' exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5' exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance. There are RefSeqs representing four transcript variants of this gene. Other transcript variants including four additional exons have been described, however, their full length sequences have not been determined.This locus 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 - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. 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. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.
Alias Symbols: AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, PHP1A, PHP1B, POH, dJ309F20.1.1, dJ806M20.3.3, NESP, PHP1C
Protein Interaction Partner: GNB1,TTC1,TTC1,ADCY2,ADCY5,ADCY6,ADORA1,ADRB3,AVPR2,CAV3,CRHR1,GCGR,GNAS,GNGT1,HTR6,LHB,LHCGR,NUCB1,PTGDR,PTGIR,RGS2,RIC8A,RIC8B,SNX13,TSHR,TTC1,VIPR1,ADCY6,CRHR1,FSCN1,GNAS,MDM2,PAICS,RGS2,RIC8A,RUVBL1,SHMT2,SNX13,TTC1,VIPR1
Protein Size: 394 - Molecular Weight
- 46 kDa
- Gene ID
- 2778
- NCBI Accession
- NM_000516, NP_000507
- UniProt
- P63092
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