Recombinant Human Protein ALEX (GNAS)

Code CSB-YP307619HU
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Source Yeast
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Code CSB-EP307619HU
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Source E.coli
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Code CSB-EP307619HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP307619HU
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Source Baculovirus
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Code CSB-MP307619HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
GNAS
Uniprot No.
Alternative Names
GNAS; GNAS1Protein ALEX; Alternative gene product encoded by XL-exon
Species
Homo sapiens (Human)
Expression Region
1-626
Target Protein Sequence
MMARPVDPQR SPDPTFRSST RHSGKLEPME ATAHLLRKQC PSRLNSPAWE ASGLHWSSLD SPVGSMQALR PSAQHSWSPE PSVVPDQAWE DTALHQKKLC PLSLTSLPRE AAVNFSYRSQ TLLQEAQVLQ GSPELLPRSP KPSGLQRLAP EEATALPLRR LCHLSLMEKD LGTTAHPRGF PELSHKSTAA ASSRQSRPRV RSASLPPRTR LPSGSQAPSA AHPKRLSDLL LTSRAAAPGW RSPDPRSRLA APPLGSTTLP STWTAPQSRL TARPSRSPEP QIRESEQRDP QLRRKQQRWK EPLMPRREEK YPLRGTDPLP PGQPQRIPLP GQPLQPQPIL TPGQPQKIPT PGQHQPILTP GHSQPIPTPG QPLPPQPIPT PGRPLTPQPI PTPGRPLTPQ PIQMPGRPLR LPPPLRLLRP GQPMSPQLRQ TQGLPLPQPL LPPGQPKSAG RPLQPLPPGP DARSISDPPA PRSRLPIRLL RGLLARLPGG ASPRAAAAAA CTTMKGWPAA TMTPAETSPT MGPPDASAGF SIGEIAAAES PSATYSATFS CKPSGAASVD LRVPSPKPRA LSRSRRYPWR RSADRCAKKP WRSGPRSAQR RNAVSSSTNN SRTKRWATCV RTACCF
Protein Length
full length protein
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

Customer Reviews and Q&A

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Target Background

Function
May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.
Gene References into Functions
  1. Activating GNAS (R201C) mutations were found in 2 unrelated patients with virilizing ovarian Leydig cell tumors. This mutation and subsequent cAMP increase may play a significant role in the pathogenesis of virilizing LCT through the stimulation of androgen production and tumor development. PMID: 29056280
  2. mutation analysis of GNAS by pyrosequencing has diagnostic value in FFPE tissue of patients with FD, especially in specimens that were not decalcified. The R201H substitution mutation of GNAS may be involved in the pathogenesis of polyostotic FD. PMID: 28588314
  3. GNAS mutations can be used as good diagnostic tool to distinguish intramuscular / cellular myxoma from low-grade myxofibrosarcoma, especially on biopsy material. PMID: 30111377
  4. GNAS T/C 393 frequencies were similar in control and PHPT groups. No association was found between genotypes and clinical expression of PHPT. A nonstatistically significant trend was seen to lower BMD in the lumbar spine, femoral neck, and total hip in both PHPT and control C homozygote subjects. A C allele-related susceptibility to lower BMD in trabecular bone in both groups is not enough to suggest more severity. PMID: 29179855
  5. model suggests Cys1004 in AC6 (subunit C2) and Cys174 in Galphas present at the AC-Galphas interface as the possible residues that might undergo reversible nitrosylation. Docking analysis predicted novel ligands of AC6 that include forskolin-based compounds and its derivatives. PMID: 29327289
  6. In a cohort of patients with pancreatic cysts, KRAS and GNAS mutations had no significant diagnostic benefit in comparison with conventional testing. PMID: 29796909
  7. High GNAS expression is associated with poor prognosis in intrahepatic cholangiocarcinoma. PMID: 29291784
  8. we did not observe GNAS or BRAF mutations in urachal adenocarcinomas PMID: 28285720
  9. GNAS mutation is a highly specific test for IPMN. When GNAS testing is added to CEA and KRAS, a significantly greater overall accuracy (86.2%) is achieved. PMID: 27514845
  10. Our study demonstrates that GNAS mutations are present in a small subset (0.8%) of primary lung carcinomas. PMID: 28776576
  11. Mutation in GNAS is associated with Albright Hereditary Osteodystrophy. PMID: 29059381
  12. Both tissue blocks examined were positive for a GNAS p.R201H (c.602G>A) mutation (Fig. 3) at an allele frequency of 4.3 and 9.6% PMID: 28258512
  13. We now describe a family in which the female proband and her daughter with a maternally inherited 2015-bp deletion that includes GNAS exon 1 PMID: 28711660
  14. An association of the GNAS1 T393C polymorphisms with risk of aseptic loosening after total hip arthroplasty is unlikely. PMID: 28830502
  15. Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome. PMID: 28334704
  16. GNAS mutations contribute significantly to the development of a subset of serrated adenomas and colorectal carcinomas PMID: 28164369
  17. GNAS harbors 2 SNPs that were associated with an increased risk for ventricular tachyarrhythmia in implantable cardioverter defibrillator patients, of which 1 was successfully replicated in a community-based population of sudden cardiac death cases. PMID: 27895044
  18. RAS and GNAS mutations were associated with worse progression-free survival (PFS) at univariate analysis (P = 0.006 and 0.011, respectively). At multivariate analysis, only KRAS mutations were independently associated with PFS (P = 0.012); GNAS mutations were not-being significantly associated with other poor prognostic features such as incomplete cytoreduction or KRAS mutations PMID: 27502722
  19. Ectopic expression of the human gain-of-function mutation GNAS(R201C) in mice supported transplantable HSC activity and improved lymphoid output in secondary recipients. Because declining lymphoid output is a hallmark of aging, GNAS(R201C) mutations may sustain lymphoid-biased HSCs over time and maintain them in a developmental state favorable for transformation. PMID: 28939416
  20. This is the first report to show that PLEKHG2 is a novel effector of Galphas, and is negatively regulated by the Galphas subunit through direct interaction. PMID: 28108261
  21. The presence of a mutation in GNAS is helpful in identifying a mucin-producing Pancreatic cyst and is found in more than 90% of Intraductal Papillary Mucinous Pancreas Neoplasms . PMID: 28890216
  22. pseudomyxoma peritonei patients with GNAS mutations had a significantly shorter median progression-free survival as compared to GNAS wild-type ones. PMID: 27154293
  23. GNAS mutation is associated with gastric cancer. PMID: 28160572
  24. Mechanical stress affects methylation pattern of GNAS isoforms and osteogenic differentiation of human adipose tissue-derived mesenchymal stem cells. PMID: 28483487
  25. patients with Pseudohypoparathyroidism type 1A, parathormone resistance and hypocalcemia develop over time. These findings highlight the importance of screening for maternal GNAS mutations in the presence of ectopic ossifications or family history, even in the absence of parathormone resistance and hypocalcemia. PMID: 28323910
  26. Mutation in GNAS gene is associated with Pancreatic Ductal Adenocarcinoma. PMID: 28810144
  27. activating mutations in GNAS and Kras cooperatively promote murine pancreatic tumorigenesis PMID: 26257060
  28. These results indicate that the ICL2 region of the EP2 receptor is its potential interaction site with Galphas, and that the aromatic side chain moiety at position 143 is a determinant for the accessibility of the ICL2 to the Galphas protein. PMID: 28336329
  29. a novel p53/POMC/Galphas/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. PMID: 27885802
  30. There was a significant difference in the sensitivity of the assay between decalcified and nondecalcified FDs (31% vs. 70%, P=0.002). LNA-PCR has no added value in enhancing detection sensitivity for GNAS mutations in FD PMID: 26574629
  31. Further research exploring possible genetic variants such as the GNAS gene in children and adolescents diagnosed with MCA is warranted PMID: 28216128
  32. findings expand the spectrum of genetic mutations that lead to loss-of-methylation at exon A/B alone and thus biallelic expression of the transcript derived from this alternative first GNAS exon PMID: 28084650
  33. Mutations in GNAS gene is associated with ductal adenomas. PMID: 27438523
  34. Various genetic and epigenetic defects in European pseudohypoparathyroidism patients. PMID: 27428667
  35. The molecular analysis of the GNAS gene in PHP and locus identified the causal alteration in 74 subjects (46 genetic and 28 epigenetic mutations). The clinical data at the diagnosis and their evolution during up to 15 years follow-up were collected using two different cards. PMID: 27871293
  36. 12(S)-HETrE, a 12-lipoxygenase oxylipin of dihomo-gamma-linolenic acid, inhibits thrombosis via Galphas signaling in platelets. PMID: 27470510
  37. acylation-deacylation cycle is important for the steady-state localization of Galphas at the plasma membrane, but our results do not support a role for deacylation in activity-dependent Galphas internalization. PMID: 27528603
  38. GNAS mutations may be involved in the tumorigenesis of potentially malignant lobular endocervical glandular hyperplasia. PMID: 27718288
  39. GNAS mutation was not found in any colorectal cancer. PMID: 26350188
  40. Results suggest that G protein alpha S subunit (Galphas) plays a tumor-promoting role in renal cell carcinoma (RCC) and possibly acts through a protein kinase A (PKA)-dependent pathway. PMID: 28051330
  41. Progressive osseous heteroplasia has been found to be associated with different phenotypes caused by inactivating GNAS mutations, which is why it cannot be categorized as one distinct Mendelian trait PMID: 27058263
  42. Data show that G protein (heterotrimeric guanine nucleotide-binding protein)-coupled receptor (GPR37L1) coupled to the G protein Galpha(s) when heterologously expressed in cultured cells. PMID: 27072655
  43. Studies indicate that adenylate cyclase-stimulating G alpha protein (GNAS) mutation was identified in two branch-duct gastric-type intraductal papillary mucinous neoplasms of the pancreas (BrD-IPMN). PMID: 27077715
  44. Presence of GNAS mutations in aldosterone-producing adenomas, as well as in some cortisol-secreting adenomas. PMID: 26743443
  45. The genetic defect(s) leading in Pseudohypoparathyroidism Type Ib to epigenetic GNAS changes and thus PTH-resistance remains unknown, but it seems unlikely that this disease variant is caused by heterozygous inherited or de novo mutations involving GNAS. PMID: 26479409
  46. Data show that both mother and child revealed a frameshift that resulted from a heterozygous 2-base pair (bp) deletion at codon 63 (c.188_189delTG) in Gs alpha GTP-binding protein subunits (Gs-alpha) encoded by the GNAS gene. PMID: 26401884
  47. DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress PMID: 26333472
  48. GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas. PMID: 26248895
  49. functional evidence that G-protein coupling to the beta2AR stabilizes a 'closed' receptor conformation characterized by restricted access to and egress from the hormone-binding site PMID: 27362234
  50. imprinting of GNAS is the determining factor for the variability of the phenotype. PMID: 23548772

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Involvement in disease
GNAS hyperfunction (GNASHYP); ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1); Pseudohypoparathyroidism 1B (PHP1B); Colorectal cancer (CRC)
Subcellular Location
Cell membrane; Peripheral membrane protein. Cell projection, ruffle.
Protein Families
ALEX family
Database Links

HGNC: 4392

OMIM: 114500

UniGene: Hs.125898

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