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collagen 11 alpha-1 (COL11A1, COLL6)

Function: - may play a role in fibrillogenesis by controlling lateral growth of collagen 2 fibrils - Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains - trimers composed of three different chains: COL11A1, COL11A2, & COL11A3 - COL11A3 is a post-translational modification of COL2A1 - COL5A1 can also be found instead of COL11A3 Structure: - N-glycosylated (putative) - belongs to the fibrillar collagen family - contains 8 collagen-like domains - contains 1 fibrillar collagen NC1 domain - contains 1 laminin G-like domain Compartment: - secreted, extracellular space, extracellular matrix (putative) Alternative splicing: - named isoforms=3 - additional isoforms seem to exist Expression: - expressed in cartilage, placenta & some tumor or virally transformed cell lines - isoforms using exon IIA or IIB are found in cartilage while isoforms using only exon IIB are found in tendon Pathology: - defects in COL11A1 are the cause of - Stickler syndrome type 2 - Marshall syndrome - fibrochondrogenesis

Related

COL11A1 or collagen 11 alpha-1 gene Marshall syndrome Stickler syndrome or hereditary progressive arthroophthalmopathy

General

collagen subunit glycoprotein

Properties

SIZE: entity length = 1806 aa MW = 181 kD MOTIF: signal sequence {1-35} cysteine residue {C61} MODIFICATION: cysteine residue {C243} Laminin G-like {71-243} MOTIF: cysteine residue {C182} MODIFICATION: cysteine residue {C236} Nonhelical region {230-419} MOTIF: cysteine residue {C236} MODIFICATION: cysteine residue {C182} cysteine residue {C243} MODIFICATION: cysteine residue {C61} Triple-helical region {420-508} MOTIF: Collagen-like 1 {442-490} Short nonhelical segment {509-511} Telopeptide {512-528} Triple-helical region {529-1542} MOTIF: Collagen-like 2 {532-586} Collagen-like 3 {583-641} Collagen-like 4 {616-674} Collagen-like 5 {643-699} Collagen-like 6 {1393-1450} Collagen-like 7 {1429-1487} Collagen-like 8 {1483-1541} Nonhelical region {1543-1563} Fibrillar collagen NC1 {1577-1805} MOTIF: cysteine residue {C1607} MODIFICATION: cysteine residue {C-INTERCHAIN} cysteine residue {C1630} MODIFICATION: cysteine residue {C-INTERCHAIN} cysteine residue {C1639} MODIFICATION: cysteine residue {C-INTERCHAIN} N-glycosylation site {N1640} cysteine residue {C1648} MODIFICATION: cysteine residue {C1803} cysteine residue {C1714} MODIFICATION: cysteine residue {C1757} cysteine residue {C1757} MODIFICATION: cysteine residue {C1714} cysteine residue {C1803} MODIFICATION: cysteine residue {C1648}

Database Correlations

OMIM correlations UniProt P12107 PFAM correlations Entrez Gene 1301 Kegg hsa:1301

References

  1. UniProt :accession P12107
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL11A1
  3. Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
  4. OMIM :accession 120280
  5. Entrez Gene :accession 1301

Component-of

collagen type-11