GNAS ELISA Kit for Human(Homo sapiens) | EIAab.comGNAS ELISA Kit for Human(Homo sapiens)

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GNAS (Gene name),

Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas (Protein name ), GNAS1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

GNAS(GNAS1);

Protein name:

Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas;

Alternative:

Extra large alphas protein(XLalphas);Adenylate cyclase-stimulating G alpha protein;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts through its N-terminal region with ALEX which is produced from the same locus in a different open reading frame. This interaction may inhibit its adenylyl cyclase-stimulating activity.

Function:

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase: it activates the cyclase in response to beta-adrenergic stimuli. XLas isoforms interact with the same set of receptors as Gnas isoforms.

Subcellular Location:

Cell membrane Peripheral membrane protein

Protein Attributes:

Sequence length:

1037

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1037:

YCYPHFTCAV | DTENIRRVFN | DCRDIIQRMH | LRQYELL

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

hsa:2778

Pfam:

PF00503

MIM:

139320

UniGene:

Hs.125898

String:

Q5JWF2

SMR:

Q5JWF2

Uniprot:

Q5JWF2

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ELISA Kit for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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CLIA Kit for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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Polyclonal Antibody for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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P14288Rb-h

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Polyclonal Antibody for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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Polyclonal Antibody for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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P14288Rb-m

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Polyclonal Antibody for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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P14288Rb-m

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Polyclonal Antibody for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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Monoclonal Antibody for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

Protein for Human Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

R&D Technical Data

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References

1.

"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P. , Matthews L.H. , Ashurst J.L. , Burton J. , Gilbert J.G.R. , Jones M. , Stavrides G. , Almeida J.P. , Babbage A.K. , Bagguley C.L. , Bailey J. , Barlow K.F. , Bates K.N. , Beard L.M. , Beare D.M. , Beasley O.P. , Bird C.P. , Blakey S.E. , more...
Nature414:865-871(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
2.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
3.

"An imprinted antisense transcript at the human GNAS1 locus."
Hayward B.E. , Bonthron D.T.
Hum. Mol. Genet.9:835-841(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-689
4.

"The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins."
Hayward B.E. , Kamiya M. , Strain L. , Moran V. , Campbell R. , Hayashizaki Y. , Bonthron D.T.
Proc. Natl. Acad. Sci. U.S.A.95:10038-10043(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 197-1037 (ISOFORM XLAS-3)
5.

"Oscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay."
Nekrutenko A. , Wadhawan S. , Goetting-Minesky P. , Makova K.D.
PLoS Genet.1:197-204(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 302-689
6.

"GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance."
Linglart A. , Carel J.-C. , Garabedian M. , Le T. , Mallet E. , Kottler M.-L.
J. Clin. Endocrinol. Metab.87:189-197(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1C
7.

"XL alpha-s, the extra-long form of the alpha subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex."
Abramowitz J. , Grenet D. , Birnbaumer M. , Torres H.N. , Birnbaumer L.
Proc. Natl. Acad. Sci. U.S.A.101:8366-8371(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION
8.

"A GNAS1 imprinting defect in pseudohypoparathyroidism type IB."
Liu J. , Litman D. , Rosenberg M.J. , Yu S. , Biesecker L.G. , Weinstein L.S.
J. Clin. Invest.106:1167-1174(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1B
9.

"Paternal uniparental isodisomy of chromosome 20q -- and the resulting changes in GNAS1 methylation -- as a plausible cause of pseudohypoparathyroidism."
Bastepe M. , Lane A.H. , Jueppner H.
Am. J. Hum. Genet.68:1283-1289(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1B
10.

"Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib."
Wu W.-I. , Schwindinger W.F. , Aparicio L.F. , Levine M.A.
J. Biol. Chem.276:165-171(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1B
11.

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-995;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
12.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
13.

"Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding."
Freson K. , Hoylaerts M.F. , Jaeken J. , Eyssen M. , Arnout J. , Vermylen J. , Van Geet C.
Thromb. Haemost.86:733-738(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GNASHYP ASP-436; PRO-ALA-ASP-PRO-ASP-SER-GLY-ALA-ALA-PRO-ASP-ALA-437 INS AND ARG-459
14.

"Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1."
Jan de Beur S. , Ding C. , Germain-Lee E. , Cho J. , Maret A. , Levine M.A.
Am. J. Hum. Genet.73:314-322(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1B
15.

"Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation."
Freson K. , Jaeken J. , Van Helvoirt M. , de Zegher F. , Wittevrongel C. , Thys C. , Hoylaerts M.F. , Vermylen J. , Van Geet C.
Hum. Mol. Genet.12:1121-1130(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GNASHYP ASP-436; PRO-ALA-ASP-PRO-ASP-SER-GLY-ALA-ALA-PRO-ASP-ALA-437 INS AND ARG-459
16.

"Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene."
Fragoso M.C.B.V. , Domenice S. , Latronico A.C. , Martin R.M. , Pereira M.A.A. , Zerbini M.C.N. , Lucon A.M. , Mendonca B.B.
J. Clin. Endocrinol. Metab.88:2147-2151(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN AIMAH1
17.

"Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS."
Bastepe M. , Froehlich L.F. , Hendy G.N. , Indridason O.S. , Josse R.G. , Koshiyama H. , Koerkkoe J. , Nakamoto J.M. , Rosenbloom A.L. , Slyper A.H. , Sugimoto T. , Tsatsoulis A. , Crawford J.D. , Jueppner H.
J. Clin. Invest.112:1255-1263(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1B
18.

"A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS."
Linglart A. , Gensure R.C. , Olney R.C. , Jueppner H. , Bastepe M.
Am. J. Hum. Genet.76:804-814(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1B
19.

"Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib."
Bastepe M. , Froehlich L.F. , Linglart A. , Abu-Zahra H.S. , Tojo K. , Ward L.M. , Jueppner H.
Nat. Genet.37:25-27(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN PHP1B

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