GNAS1_HUMAN
Source:
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
GNAS
, GNAS1
Protein names and data:
GNAS1_HUMAN
, Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
, Adenylate cyclase-stimulating G alpha protein; Extra large alphas protein; XLalphas
Lenght: 1037 a.a.
Mass: 111025 Da
fasta formatted sequence
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 (By similarity).
Disease:
( OMIM:
139320
219080
603233
612462
)
GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this entry. ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH- independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry. Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed. Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane; Peripheral membrane protein (By similarity).
Genetic variants
436 - 436
A -> D (in GNASHYP; dbSNP:rs61749698). VAR_028777
61749698
437 - 437
A -> APADPDSGAAPDA (in GNAS hyperfunction). VAR_028778
459 - 459
P -> R (in GNASHYP; dbSNP:rs148033592). VAR_028779
148033592
1023 - 1023
R -> L (in dbSNP:rs8986). VAR_059656
8986
Database cross-references
UniProt:
Q5JWF2
Ensembl:
ENST00000371100
Ensembl:
ENST00000371102
MIM:
139320
MIM:
219080
MIM:
603233
MIM:
612462
neXtProt:
NX_Q5JWF2
Antibodypedia:
Q5JWF2
(may not find the protein thus also not any antibody)
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