Homo sapiens Protein: COL9A1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-92010.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | COL9A1 | ||||||||||||||||||
Protein Name | collagen, type IX, alpha 1 | ||||||||||||||||||
Synonyms | DJ149L1.1.2; EDM6; MED; STL4; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000359527 | ||||||||||||||||||
InnateDB Gene | IDBG-92000 (COL9A1) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Structural component of hyaline cartilage and vitreous of the eye. | ||||||||||||||||||
Subcellular Localization | Secreted, extracellular space, extracellular matrix {ECO:0000250}. | ||||||||||||||||||
Disease Associations | Multiple epiphyseal dysplasia 6 (EDM6) [MIM:614135]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269PubMed:11565064}. Note=The disease is caused by mutations affecting the gene represented in this entry.Stickler syndrome 4 (STL4) [MIM:614134]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269PubMed:16909383}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001791
Laminin G domain IPR008160 Collagen triple helix repeat IPR008985 Concanavalin A-like lectin/glucanases superfamily |
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PFAM |
PF00054
PF02210 PF01391 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00210
SM00282 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P20849 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P20849 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1297 | ||||||||||||||||||
UniGene | Hs.637684 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:2217 | ||||||||||||||||||
OMIM | 120210 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 00367 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF036110 AF036111 AF036112 AF036113 AF036114 AF036115 AF036116 AF036117 AF036118 AF036119 AF036120 AF036121 AF036122 AF036123 AF036124 AF036125 AF036126 AF036127 AF036128 AF036129 AF036130 AL080275 AL160262 BC015409 BC063646 M32133 M32135 M32137 X54412 X54413 | ||||||||||||||||||
GenPept | AAA53474 AAA53475 AAC33527 AAC33528 AAH15409 AAH63646 CAA38276 CAA38277 CAI19590 CAI19591 CAI42321 | ||||||||||||||||||