Overview

Description

  • Nature

    Recombinant
  • Source

    HEK 293 cells
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      RPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGV QLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDA LPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKT VKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATGSIIMDSVVPS DKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNV EFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEM EVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPL YLEII
    • Molecular weight

      42 kDa including tags
    • Amino acids

      22 to 376
    • Additional sequence information

      Extracellular domain fused with a Twin-Strep tag at the C-terminus (AAH18128). W211G.

Associated products

Specifications

Our Abpromise guarantee covers the use of ab223107 in the following tested applications.

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

  • Applications

    SDS-PAGE

  • Endotoxin level

    < 1.000 Eu/µg
  • Purity

    > 95 % SDS-PAGE.

  • Form

    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at 4°C (stable for up to 12 months). Upon reconsitution add a carrier protein (0.1% BSA). Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    pH: 7.40
    Constituents: PBS, 5% Trehalose

    Lyophilized from 0.22 µm filtered solution.

  • Reconstitution
    It is recommended to reconstitute the lyophilized product in sterile deionized water to a final concentration of 1 mg/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

  • ab223107 analyzed by DTT-reduced SDS-PAGE and stained overnight with Coomassie Blue.

    DTT-reduced protein migrates as 70-90 kDa in SDS-PAGE due to glycosylation.

References

ab223107 has not yet been referenced specifically in any publications.

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