| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Structural component of hyaline cartilage and vitreous of the eye. SUBUNIT: Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity). PTM: Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links. PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. DISEASE: Defects in COL9A3 are the cause of multiple epiphyseal dysplasia type 3 (EDM3) [MIM:600969]; also known as multiple epiphyseal dysplasia with myopathy. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. DISEASE: Defects in COL9A3 are a cause of susceptibility to intervertebral disk disease (IDD) [MIM:603932]. A common musculo- skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Note=Susceptibility to intervertebral disk disease, is conferred by variant p.Arg103Trp (PubMed:11308397). SIMILARITY: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL9A3"; GENE SYNONYMS:COL9A3. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 684 AA; 63616 MW; 892F035CF6E06733 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:2219,
urn:biopax:RelationshipXref:NCBI GENE_1299,
urn:biopax:RelationshipXref:REFSEQ_NP_001844,
urn:biopax:UnificationXref:UNIPROT_Q13681,
urn:biopax:UnificationXref:UNIPROT_Q14050,
urn:biopax:UnificationXref:UNIPROT_Q9H4G9,
urn:biopax:UnificationXref:UNIPROT_Q9UPE2
|
| biopax3:displayName |
CO9A3_HUMAN
|
| biopax3:name |
COL9A3
|
| biopax3:organism | |
| biopax3:sequence |
MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQGLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGICDTSACQGAVLGGVGEKSGSRSS
|
| biopax3:standardName |
Collagen alpha-3(IX) chain
|