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- Table of Contents
Facts about Collagen alpha-1(XI) chain.
Human | |
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Gene Name: | COL11A1 |
Uniprot: | P12107 |
Entrez: | 1301 |
Belongs to: |
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fibrillar collagen family |
alpha-1 polypeptide; COLL6; collagen, type XI, alpha 1
Mass (kDA):
181.065 kDA
Human | |
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Location: | 1p21.1 |
Sequence: | 1; NC_000001.11 (102876467..103108580, complement) |
Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.
Secreted, extracellular space, extracellular matrix.
PMID: 1690726 by Yoshioka H., et al. Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines.
PMID: 10486316 by Annunen S., et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.