Recombinant human FGFR1 protein (Active) (ab168696)

Overview

Description

  • Nature
    Recombinant
  • Source
    HEK 293 cells
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Molecular weight
      43 kDa including tags
    • Amino acids
      22 to 376
    • Tags
      His tag C-Terminus

Specifications

Our Abpromise guarantee covers the use of ab168696 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Biological activity
    Measured by its ability to inhibit aFGF /FGF-acidic dependent proliferation of BALB /3T3 mouse fibroblasts. The ED50 for this effect is typically 15-50 ng/ml.
  • Applications

    Functional Studies

    SDS-PAGE

  • Endotoxin level
    < 1.000 Eu/µg
  • Purity
    >95% by SDS-PAGE .

  • Form
    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at 4°C prior to reconstitution. Store at -80°C. Avoid freeze / thaw cycle.

    pH: 7.40
    Constituents: PBS, 5% Trehalose

    This product is an active protein and may elicit a biological response in vivo, handle with caution.

  • Reconstitution
    It is recommended to reconstitute the lyophilized protein in sterile deionized water to a final concentration of 400 ug/ml. Solubilize for 30 to 60 minutes at room temperature with occasional gentle mixing. Carrier protein (0.1% HSA or BSA) is strongly recommended for further dilution and long term storage

General Info

  • Alternative names
    • Basic fibroblast growth factor receptor 1
    • bFGF-R-1
    • BFGFR
    • CD331
    • CEK
    • FGFBR
    • FGFR 1
    • FGFR-1
    • FGFR1
    • FGFR1/PLAG1 fusion
    • FGFR1_HUMAN
    • fibroblast growth factor receptor 1
    • FLG
    • FLT-2
    • FLT2
    • Fms-like gene
    • Fms-like tyrosine kinase 2
    • fms-related tyrosine kinase 2
    • HBGFR
    • heparin-binding growth factor receptor
    • HH2
    • HRTFDS
    • hydroxyaryl-protein kinase
    • KAL2
    • N-SAM
    • OGD
    • Proto-oncogene c-Fgr
    see all
  • Function
    Receptor for basic fibroblast growth factor. Receptor for FGF23 in the presence of KL (By similarity). A shorter form of the receptor could be a receptor for FGF1 (aFGF).
  • Tissue specificity
    Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in these cells.
  • Involvement in disease
    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 idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function.
    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 trigonocephaly non-syndromic (TRICEPH) [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.
    Note=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.
    Note=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.
    Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) with CEP110. 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 protein CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity.
  • Sequence similarities
    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.
  • Post-translational
    modifications
    Binding of FGF1 and heparin promotes autophosphorylation on tyrosine residues and activation of the receptor.
  • Cellular localization
    Membrane. Nucleus. Cytoplasm. Cytoplasmic vesicle
  • Information by UniProt

Images

  • SDS-PAGE analysis of reduced ab168696 stained overnight with Coomassie Blue.
    DTT-reduced SDS-PAGE, protein migrates as 60-65 kDa.

References

ab168696 has not yet been referenced specifically in any publications.

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