- 当前位置：首页 > >Merck Millipore > 生命科学研究
- 生命科学研究
- 产品介绍
描述 产品目录编号 14-582 品牌系列 Upstate
商名 - Upstate
描述 FGFR1 Protein, active, 10 µg 概述 N-terminal GST-tagged, recombinant, human FGFR1 amino acids 456-765 应用 应用 Active, N-terminal GST-tagged, recombinant, human FGFR1 amino acids 456-765, for use in Kinase Assays. 主要应用 - Kinase Assay
生物信息 来源 expressed by baculovirus in Sf21 insect cells. 品种 Human 特异活性 For Specific Activity data, refer to the Certificate of Analysis for individual lots of this enzyme. Entrez基因编号 - NM_023111.2
- NM_015850.3
- NM_023105.2
- NM_023106.2
- NM_023107.2
- NM_023108.2
- NM_023110.2
Entrez基因汇总 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 基因符号 - FGFBR
- FGFR1
- CEK
- bFGF-R
- N-SAM
- H5
- FLT2
- BFGFR
- FGFR-1
- c-fgr
- FLG
- H3
- H2
- KAL2
- HBGFR
- CD331
- H4
蛋白靶 FGFR1 纯化方法 Glutathione agarose affinity chromatography 靶子系列 TK UniProt编号 - P11362
UniProt汇总 FUNCTION: SwissProt: P11362 # Receptor for basic fibroblast growth factor. A shorter form of the receptor could be a receptor for FGF1 (aFGF).
SIZE: 822 amino acids; 91868 Da
SUBUNIT: Interacts with SHB. Interacts with KLB (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
PTM: Binding of FGF1 and heparin promotes autophosphorylation on tyrosine residues and activation of the receptor.
DISEASE: SwissProt: P11362 # Defects in FGFR1 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as acrocephalosyndactyly type V (ACS5). PS is characterized by craniosynostosis (premature fusion of the skull sutures) with deviation and enlargement of the thumbs and great toes, brachymesophalangy, with phalangeal ankylosis and a varying degree of soft tissue syndactyly. & Defects in FGFR1 are a cause of isolated hypogonadotropic hypogonadism (IHH) [MIM:146110]. Hypogonadism is a condition characterized by abnormally decreased gonadal function, with retardation of growth and sexual development. Hypogonadotropic hypogonadism is due to inadequate secretion of gonadotropins. It results from failure to release sufficient gonadotropin-releasing hormone. & Defects in FGFR1 are the cause of Kallmann syndrome type 2 (KAL2) [MIM:147950]; also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In some cases, midline cranial anomalies (cleft lip/palate and imperfect fusion) are present and anosmia may be absent or inconspicuous. & Defects in FGFR1 are the cause of osteoglophonic dysplasia (OGD) [MIM:166250]; also known as osteoglophonic dwarfism. OGD is characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant. & Defects in FGFR1 are the cause of non-syndromic trigonocephaly [MIM:190440]; also known as metopic craniosynostosis. The term trigonocephaly describes the typical keel-shaped deformation of the forehead resulting from premature fusion of the frontal suture. Trigonocephaly may occur also as a part of a syndrome. & A chromosomal aberration involving FGFR1 may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Translocation t(8;13)(p11;q12) with ZMYM2. SCLL usually presents as lymphoblastic lymphoma in association with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent eosinophilic infiltrates in the affected bone marrow. & A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1OP. Insertion ins(12;8)(p11;p11p22) with FGFR1OP2. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins FGFR1OP2-FGFR1, FGFR1OP-FGFR1 or FGFR1-FGFR1OP may exhibit constitutive kinase activity and be responsible for the transforming activity.
SIMILARITY: SwissProt: P11362 ## Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. & Contains 3 Ig-like C2-type (immunoglobulin-like) domains. & Contains 1 protein kinase domain.产品使用声明 质量保证 Used to phosphorylate IGF-IRtide (12-527) 使用声明 - Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
储存和货运信息 存储条件 6 months at -70°C 包装信息 数量 10 µg 包装 Also available in 250 µg size --call for pricing and availability and reference catalog number 14-582M when ordering the 250 µg size.
上一件merck millipore产品：merck millipore,默克密理博,IHCR1003-6,Anti-Tyrosine Hydroxylase Antibody, prediluted
下一件merck millipore产品：merck millipore,默克密理博,FCABS325PE,Milli-Mark™ Anti-acetyl-Histone H3-PE Antibody
相关产品
merck millipore,默克密理博,PC544,Anti-Histone Deacetylase 1 (467-482) Rabbit pAb
merck millipore,默克密理博,LSKMAGG02,PureProteome™ Protein G Magnetic Bead System
merck millipore,默克密理博,MABE8,Anti-EBNA2 Antibody, clone R3
merck millipore,默克密理博,SF-113,TWIST; Mouse, Cyanine 3 RNA Detection Probe,SmartFlare
merck millipore,默克密理博,IHCR1003-6,Anti-Tyrosine Hydroxylase Antibody, prediluted
merck millipore,默克密理博,FCABS325PE,Milli-Mark™ Anti-acetyl-Histone H3-PE Antibody
merck millipore,默克密理博,MABF336,Anti-CD123 (human) Antibody, FITC, clone 6H6
merck millipore,默克密理博,ABS95,Anti-NDK A Antibody
merck millipore,默克密理博,71900,NanoJuice Core Transfection Reagent
merck millipore,默克密理博,12-426,Phospho (Ser10)-acetyl (Lys14)-Histone H3 Peptide, biotin conjugate