InnateDB Protein
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IDBP-92008.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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COL9A1
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Protein Name
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collagen, type IX, alpha 1
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Synonyms
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DJ149L1.1.2; EDM6; MED; STL4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000315252
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InnateDB Gene
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IDBG-92000 (COL9A1)
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Protein Structure
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Function |
Structural component of hyaline cartilage and vitreous of the eye.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix {ECO:0000250}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0030020
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extracellular matrix structural constituent conferring tensile strength
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GO:0046872
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metal ion binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008160
Collagen triple helix repeat
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PFAM |
PF01391
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P20849
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PhosphoSite |
PhosphoSite-P20849
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1297
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UniGene |
Hs.637684
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RefSeq |
NP_511040
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HUGO |
HGNC:2217
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OMIM |
120210
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CCDS |
CCDS47447
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HPRD |
00367
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IMGT |
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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
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GenPept |
AAA53474
AAA53475
AAC33527
AAC33528
AAH15409
AAH63646
CAA38276
CAA38277
CAI19590
CAI19591
CAI42321
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