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Index > Protein center > GDF5(Gene name) > Human
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  • GDF5 (Gene name),
  • Growth/differentiation factor 5 (Protein name ),  GDF5_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    GDF5(CDMP1);
    Protein name:
    Growth/differentiation factor 5(GDF-5);
    Alternative:
    Radotermin;Cartilage-derived morphogenetic protein 1(CDMP-1);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homodimer; disulfide-linked.
    Function:
    Could be involved in bone and cartilage formation. Chondrogenic signaling is mediated by the high-affinity receptor BMPR1B.
    Subcellular Location:
    Secreted
    Protein Attributes:
    Sequence length:
    501
    Sequence:
    50:
    MRLPKLLTFL | LWYLAWLDLE | FICTVLGAPD | LGQRPQGTRP | GLAKAEAKER | 
    100:
    PPLARNVFRP | GGHSYGGGAT | NANARAKGGT | GQTGGLTQPK | KDEPKKLPPR | 
    150:
    PGGPEPKPGH | PPQTRQATAR | TVTPKGQLPG | GKAPPKAGSV | PSSFLLKKAR | 
    200:
    EPGPPREPKE | PFRPPPITPH | EYMLSLYRTL | SDADRKGGNS | SVKLEAGLAN | 
    250:
    TITSFIDKGQ | DDRGPVVRKQ | RYVFDISALE | KDGLLGAELR | ILRKKPSDTA | 
    300:
    KPAAPGGGRA | AQLKLSSCPS | GRQPASLLDV | RSVPGLDGSG | WEVFDIWKLF | 
    350:
    RNFKNSAQLC | LELEAWERGR | AVDLRGLGFD | RAARQVHEKA | LFLVFGRTKK | 
    400:
    RDLFFNEIKA | RSGQDDKTVY | EYLFSQRRKR | RAPLATRQGK | RPSKNLKARC | 
    450:
    SRKALHVNFK | DMGWDDWIIA | PLEYEAFHCE | GLCEFPLRSH | LEPTNHAVIQ | 
    500:
    TLMNSMDPES | TPPTCCVPTR | LSPISILFID | SANNVVYKQY | EDMVVESCGC | 
    501:
    R
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    KEGG:
    SMR:
    Pfam:
    UniGene:
    MIM:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human GDF-5
    Cat.:
    E0550m
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    MSDS:
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    96T
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    ELISA Kit for Human GDF-5
    Cat.:
    E0550h
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    MSDS:
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    Packing:
    96T
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    CLIA Kit for Human GDF-5
    Cat.:
    U0550h
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human GDF-5
    Cat.:
    U0550m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    Polyclonal Antibody for Human GDF-5
    Cat.:
    P0550Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human GDF-5
    Cat.:
    P0550Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human GDF-5
    Monoclonal Antibody for Human GDF-5
    Protein for Human GDF-5
    Protein for Human GDF-5

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Cloning and expression of recombinant human growth/differentiation factor 5."
      Hoetten G. , Neidhardt H. , Jacobowsky B. , Pohl J.
      Biochem. Biophys. Res. Commun.204:646-652(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
      tissue: Placenta.
    2. 2.
      "Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development."
      Chang S. , Hoang B. , Thomas J.T. , Vukicevic S. , Luyten F.P. , Ryba N.J.P. , Kozak C.A. , Reddi A.H. , Moos M.
      J. Biol. Chem.269:28227-28234(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT ALA-276
      tissue: Articular cartilage.
    3. 3.
      "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P. , Matthews L.H. , Ashurst J.L. , Burton J. , Gilbert J.G.R. , Jones M. , Stavrides G. , Almeida J.P. , Babbage A.K. , Bagguley C.L. , Bailey J. , Barlow K.F. , Bates K.N. , Beard L.M. , Beare D.M. , Beasley O.P. , Bird C.P. , Blakey S.E. , more...
      Nature414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    4. 4.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANT ALA-276
    5. 5.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Brain.
    6. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;IDENTIFICATION AS LPS RECEPTOR;INTERACTION WITH CXCR4; HSP90AA1 AND HSPA8;SUBCELLULAR LOCATION;TISSUE SPECIFICITY
    7. 7.
      "Cartilage-derived morphogenetic protein-1 promotes the differentiation of mesenchymal stem cells into chondrocytes."
      Bai X. , Xiao Z. , Pan Y. , Hu J. , Pohl J. , Wen J. , Li L.
      Biochem. Biophys. Res. Commun.325:453-460(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    8. 8.
      "A novel mutation in CDMP1 causes brachydactyly type C with 'angel-shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum."
      Gutierrez-Amavizca B.E. , Brambila-Tapia A.J. , Juarez-Vazquez C.I. , Holder-Espinasse M. , Manouvrier-Hanu S. , Escande F. , Barros-Nunez P.
      Eur. J. Med. Genet.55:611-614(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN BDC
    9. 9.
      "Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity."
      Kotzsch A. , Nickel J. , Seher A. , Sebald W. , Muller T.D.
      EMBO J.28:937-947(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 387-501 IN COMPLEX WITH MOUSE BMPR1B;FUNCTION;DISULFIDE BONDS
    10. 10.
      "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1."
      Thomas J.T. , Kilpatrick M.W. , Lin K. , Erlacher L. , Lembessis P. , Costa T. , Tsipouras P. , Luyten F.P.
      Nat. Genet.17:58-64(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AMDG TYR-400
    11. 11.
      "Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5)."
      Akarsu A.N. , Rezaie T. , Demirtas M. , Farhud D.D. , Sarfarazi M.
      Am. J. Hum. Genet.65:A281-A281(1999)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SYNS2 ASN-475
    12. 12.
      "Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)."
      Faiyaz-Ul-Haque M. , Ahmad W. , Zaidi S.H.E. , Haque S. , Teebi A.S. , Ahmad M. , Cohn D.H. , Tsui L.-C.
      Clin. Genet.61:454-458(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DPS PRO-441
    13. 13.
      "Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1."
      Schwabe G.C. , Tuerkmen S. , Leschik G. , Palanduz S. , Stoever B. , Goecke T.O. , Mundlos S.
      Am. J. Med. Genet. A124:356-363(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT BDC VAL-173
    14. 14.
      "Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene."
      Szczaluba K. , Hilbert K. , Obersztyn E. , Zabel B. , Mazurczak T. , Kozlowski K.
      Am. J. Med. Genet. A138:379-383(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DPS LEU-437 DEL; THR-439 AND LEU-440
    15. 15.
      "Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2."
      Seemann P. , Schwappacher R. , Kjaer K.W. , Krakow D. , Lehmann K. , Dawson K. , Stricker S. , Pohl J. , Ploeger F. , Staub E. , Nickel J. , Sebald W. , Knaus P. , Mundlos S.
      J. Clin. Invest.115:2373-2381(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SYM1B LEU-438;VARIANT BDA2 PRO-441;CHARACTERIZATION OF VARIANT SYM1B LEU-438;CHARACTERIZATION OF VARIANT BDA2 PRO-441
    16. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SYNS2 LEU-438
    17. 17.
      "A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families."
      Wang X. , Xiao F. , Yang Q. , Liang B. , Tang Z. , Jiang L. , Zhu Q. , Chang W. , Jiang J. , Jiang C. , Ren X. , Liu J.-Y. , Wang Q.K. , Liu M.
      Am. J. Med. Genet. A140:1846-1853(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SYM1B LYS-491
    18. 18.
      "A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis."
      Miyamoto Y. , Mabuchi A. , Shi D. , Kubo T. , Takatori Y. , Saito S. , Fujioka M. , Sudo A. , Uchida A. , Yamamoto S. , Ozaki K. , Takigawa M. , Tanaka T. , Nakamura Y. , Jiang Q. , Ikegawa S.
      Nat. Genet.39:529-533(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO OSTEOARTHRITIS TYPE 5
    19. 19.
      "Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia."
      Douzgou S. , Lehmann K. , Mingarelli R. , Mundlos S. , Dallapiccola B.
      Am. J. Med. Genet. A146:2116-2121(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DPS GLN-378 AND THR-436
    20. 20.
      "Brachydactyly type A2 associated with a defect in proGDF5 processing."
      Ploeger F. , Seemann P. , Schmidt-von Kegler M. , Lehmann K. , Seidel J. , Kjaer K.W. , Pohl J. , Mundlos S.
      Hum. Mol. Genet.17:1222-1233(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT BDA2 GLN-380;CHARACTERIZATION OF VARIANT BDA2 GLN-380
    21. 21.
      "Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism."
      Yang W. , Cao L. , Liu W. , Jiang L. , Sun M. , Zhang D. , Wang S. , Lo W.H. , Luo Y. , Zhang X.
      J. Hum. Genet.53:368-374(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SYM1B ARG-373;CHARACTERIZATION OF VARIANT SYM1B ARG-373
    22. 22.
      "Mutations in GDF5 presenting as semidominant brachydactyly A1."
      Byrnes A.M. , Racacho L. , Nikkel S.M. , Xiao F. , MacDonald H. , Underhill T.M. , Bulman D.E.
      Hum. Mutat.31:1155-1162(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT BDA1C CYS-399;CHARACTERIZATION OF VARIANT BDA1C CYS-399
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