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Index > Protein center > COL10A1(Gene name) > Human
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  • COL10A1 (Gene name),
  • Collagen alpha-1(X) chain (Protein name ),  COAA1_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    COL10A1;
    Protein name:
    Collagen alpha-1(X) chain;
    Alternative:

    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homotrimer.
    Function:
    Type X collagen is a product of hyperthrophic chondrotocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
    Subcellular Location:
    Secreted extracellular space extracellular matrix
    Protein Attributes:
    Sequence length:
    680
    Sequence:
    50:
    MLPQIPFLLL | VSLNLVHGVF | YAERYQMPTG | IKGPLPNTKT | QFFIPYTIKS | 
    100:
    KGIAVRGEQG | TPGPPGPAGP | RGHPGPSGPP | GKPGYGSPGL | QGEPGLPGPP | 
    150:
    GPSAVGKPGV | PGLPGKPGER | GPYGPKGDVG | PAGLPGPRGP | PGPPGIPGPA | 
    200:
    GISVPGKPGQ | QGPTGAPGPR | GFPGEKGAPG | VPGMNGQKGE | MGYGAPGRPG | 
    250:
    ERGLPGPQGP | TGPSGPPGVG | KRGENGVPGQ | PGIKGDRGFP | GEMGPIGPPG | 
    300:
    PQGPPGERGP | EGIGKPGAAG | APGQPGIPGT | KGLPGAPGIA | GPPGPPGFGK | 
    350:
    PGLPGLKGER | GPAGLPGGPG | AKGEQGPAGL | PGKPGLTGPP | GNMGPQGPKG | 
    400:
    IPGSHGLPGP | KGETGPAGPA | GYPGAKGERG | SPGSDGKPGY | PGKPGLDGPK | 
    450:
    GNPGLPGPKG | DPGVGGPPGL | PGPVGPAGAK | GMPGHNGEAG | PRGAPGIPGT | 
    500:
    RGPIGPPGIP | GFPGSKGDPG | SPGPPGPAGI | ATKGLNGPTG | PPGPPGPRGH | 
    550:
    SGEPGLPGPP | GPPGPPGQAV | MPEGFIKAGQ | RPSLSGTPLV | SANQGVTGMP | 
    600:
    VSAFTVILSK | AYPAIGTPIP | FDKILYNRQQ | HYDPRTGIFT | CQIPGIYYFS | 
    650:
    YHVHVKGTHV | WVGLYKNGTP | VMYTYDEYTK | GYLDQASGSA | IIDLTENDQV | 
    680:
    WLQLPNAESN | GLYSSEYVHS | SFSGFLVAPM | 
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    MIM:
    Pfam:
    SMR:
    KEGG:
    UniGene:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Collagen alpha-1(X) chain
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    E1467h
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    ELISA Kit for Human Collagen alpha-1(X) chain
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    E1467m
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    ELISA Kit for Human Collagen alpha-1(X) chain
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    E1467c
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    ELISA Kit for Human Collagen alpha-1(X) chain
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    E1467b
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    96T
    CLIA Kit for Human Collagen alpha-1(X) chain
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    U1467b
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    CLIA Kit for Human Collagen alpha-1(X) chain
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    U1467c
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(X) chain
    Cat.:
    U1467m
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(X) chain
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    U1467h
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Collagen alpha-1(X) chain
    Cat.:
    P1467Rb-m
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Collagen alpha-1(X) chain
    Cat.:
    P1467Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Collagen alpha-1(X) chain
    Polyclonal Antibody for Human Collagen alpha-1(X) chain
    Monoclonal Antibody for Human Collagen alpha-1(X) chain
    Monoclonal Antibody for Human Collagen alpha-1(X) chain
    Monoclonal Antibody for Human Collagen alpha-1(X) chain
    Monoclonal Antibody for Human Collagen alpha-1(X) chain
    Protein for Human Collagen alpha-1(X) chain
    Protein for Human Collagen alpha-1(X) chain
    Protein for Human Collagen alpha-1(X) chain
    Protein for Human Collagen alpha-1(X) chain

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    Linearity
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    References
    1. 1.
      "The human collagen X gene. Complete primary translated sequence and chromosomal localization."
      Thomas J.T. , Cresswell C.J. , Rash B. , Nicolai H. , Jones T. , Solomon E. , Grant M.E. , Boot-Handford R.P.
      Biochem. J.280:617-623(1991) [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];VARIANT THR-27
    2. 2.
      "Genomic organization and full-length cDNA sequence of human collagen X."
      Reichenberger E. , Beier F. , LuValle P. , Olsen B.R. , von der Mark K. , Bertling W.M.
      FEBS Lett.311:305-310(1992) [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]
    3. 3.
      Beier F. , Lammi M.B. , von der Mark K.
      Submitted (1996-06) to the EMBL/GenBank/DDBJ databases
      [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]
    4. 4.
      "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J. , Palmer S.A. , Sims S.K. , Edwards C.A. , Ashurst J.L. , Wilming L. , Jones M.C. , Horton R. , Hunt S.E. , Scott C.E. , Gilbert J.G.R. , Clamp M.E. , Bethel G. , Milne S. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Andrews T.D. , more...
      Nature425:805-811(2003) [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]
    5. 5.
      [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]
    6. 6.
      "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]
    7. 7.
      "Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10."
      Apte S.S. , Seldin M.F. , Hayashi M. , Olsen B.R.
      Eur. J. Biochem.206:217-224(1992) [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] OF 52-680
    8. 8.
      "Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6."
      Apte S. , Mattei M.-G. , Olsen B.R.
      FEBS Lett.282:393-396(1991) [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 OF 561-666
    9. 9.
      "In situ hybridization studies on the expression of type X collagen in fetal human cartilage."
      Reichenberger E. , Aigner T. , von der Mark K. , Stoeb H. , Bertling W.
      Dev. Biol.148:562-572(1991) [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] OF 547-655
    10. 10.
      "Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer."
      Bogin O. , Kvansakul M. , Rom E. , Singer J. , Yayon A. , Hohenester E.
      Structure10:165-173(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: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 521-680;CALCIUM-BINDING
    11. 11.
      "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels."
      Kuivaniemi H. , Tromp G. , Prockop D.J.
      Hum. Mutat.9:300-315(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: REVIEW ON VARIANTS
    12. 12.
      "Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid."
      Wallis G.A. , Rash B. , Sweetman W.A. , Thomas J.T. , Super M. , Evans G. , Grant M.E. , Boot-Handford R.P.
      Am. J. Hum. Genet.54:169-178(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: VARIANTS SMCD ASP-598 AND PRO-614
    13. 13.
      "Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus."
      McIntosh I. , Abbott M.H. , Warman M.L. , Olsen B.R. , Francomano C.A.
      Hum. Mol. Genet.3:303-307(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: VARIANT SMCD ARG-591
    14. 14.
      "Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia."
      Chan D. , Cole W.G. , Rogers J.G. , Bateman J.F.
      J. Biol. Chem.270:4558-4562(1995) [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 SMCD VAL-618
    15. 15.
      "Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias."
      Bonaventure J. , Chaminade F. , Maroteaux P.
      Hum. Genet.96:58-64(1995) [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 SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648
    16. 16.
      "Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia."
      Wallis G.A. , Rash B. , Sykes B. , Bonaventure J. , Maroteaux P. , Zabel B. , Wynne-Davies R. , Grant M.E. , Boot-Handford R.P.
      J. Med. Genet.33:450-457(1996) [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 SMCD PRO-600
    17. 17.
      "Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia."
      Ikegawa S. , Nakamura K. , Nagano A. , Haga N. , Nakamura Y.
      Hum. Mutat.9:131-135(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: VARIANTS SMCD GLU-18 AND ARG-18
    18. 18.
      "Mutation of the type X collagen gene 'COL10A1' causes spondylometaphyseal dysplasia."
      Ikegawa S. , Nishimura G. , Nagai T. , Hasegawa T. , Ohashi H. , Nakamura Y.
      Am. J. Hum. Genet.63:1659-1662(1998) [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 SPONDYLOMETAPHYSEAL DYSPLASIA JAPANESE TYPE GLU-595
    19. 19.
      "Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia."
      Sawai H. , Ida A. , Nakata Y. , Koyama K.
      J. Hum. Genet.43:259-261(1998) [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 SMCD CYS-597
    20. 20.
      "Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia."
      Bateman J.F. , Wilson R. , Freddi S. , Lamande S.R. , Savarirayan R.
      Hum. Mutat.25:525-534(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 SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671;VARIANTS THR-27; HIS-198; ARG-545 AND MET-603
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