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产品信息
PA5-115304
产品规格
种属反应
Human,
Mouse,
Rat
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
A synthesized peptide derived from human GNAS, corresponding to a region within C-terminal amino acids.
偶联物
形式
Liquid
浓度
1 mg/mL
纯化类型
Affinity chromatography
保存液
PBS with 50% glycerol
内含物
0.02% sodium azide
保存条件
-20°C
运输条件
Wet ice
RRID
AB_2899940
产品详细信息
Antibody detects endogenous levels of total GNAS.
靶标信息
Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseous 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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生物信息学
蛋白别名: Adenylate cyclase-stimulating G alpha protein; Alternative gene product encoded by XL-exon; dJ309F20.1.1; dJ806M20.3.3; Extra large alphas protein; G protein subunit alpha S; G-alpha-8; GNAS; GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus; gnas {ECO:0000312|RGD:2716}; Gs alpha subunit; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; guanine nucleotide binding protein alpha s; guanine nucleotide regulatory protein; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short; Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; guanine nucleotide-binding protein G-s, alpha subunit; MGC33735; NESP55; neuroendocrine secretory protein; Neuroendocrine secretory protein 55; OTTHUMP00000031742; OTTHUMP00000196026; OTTHUMP00000196030; PHP1C; Protein ALEX; RP4-543J19.4; secretogranin VI; stimulatory G-protein alpha subunit; XLalphas; XLas
基因别名: 5530400H20Rik; A930027G11Rik; AHO; C130027O20Rik; C20orf45; Galphas; GNAS; GNAS1; Gnasxl; Gnpas; GPSA; GSA; GSP; MNCb-5546; NESP; Nesp55; Nespl; Oed-Sml; Oedsml; P1; P2; P3; PHP1A; PHP1B; POH; SCG6; SgVI
UniProt ID: (Human) P84996, (Mouse) Q6R0H6, (Rat) P63095
Entrez Gene ID: (Human) 2778, (Mouse) 14683, (Rat) 24896
GTPase activity
signal transducer activity
insulin-like growth factor receptor binding
protein binding
GTP binding
G-protein beta/gamma-subunit complex binding
beta-2 adrenergic receptor binding
D1 dopamine receptor binding
mu-type opioid receptor binding
ionotropic glutamate receptor binding
metal ion binding
corticotropin-releasing hormone receptor 1 binding
nucleotide binding
G-protein alpha-subunit binding
guanyl nucleotide binding
protein domain specific binding
G-protein beta-subunit binding
alpha-tubulin binding
heterotrimeric G-protein
tissue homeostasis
endochondral ossification
energy reserve metabolic process
DNA methylation
adenylate cyclase-activating G-protein coupled receptor signaling pathway
adenylate cyclase-activating dopamine receptor signaling pathway
sensory perception of chemical stimulus
embryonic hindlimb morphogenesis
multicellular organism growth
post-embryonic body morphogenesis
response to drug
positive regulation of osteoblast differentiation
positive regulation of osteoclast differentiation
developmental growth
embryonic cranial skeleton morphogenesis
cognition
cartilage development
bone development
hair follicle placode formation
platelet aggregation
genetic imprinting
regulation of parathyroid hormone secretion
skeletal system development
positive regulation of protein phosphorylation
regulation of transcription from RNA polymerase II promoter
signal transduction
G-protein coupled receptor signaling pathway
post-embryonic development
regulation of signal transduction
positive regulation of sodium ion transport
positive regulation of cAMP biosynthetic process
negative regulation of renal sodium excretion
negative regulation of multicellular organism growth
positive regulation of GTPase activity
skin development
positive regulation of cAMP-mediated signaling
negative regulation of blood pressure
calcium ion homeostasis
response to parathyroid hormone
cellular response to prostaglandin E stimulus
cellular response to catecholamine stimulus
adenylate cyclase-activating adrenergic receptor signaling pathway
metabolic process
