InnateDB Protein
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IDBP-95634.6
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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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COL10A1
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Protein Name
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collagen, type X, alpha 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000327368
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InnateDB Gene
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IDBG-95630 (COL10A1)
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Protein Structure
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Function |
Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix {ECO:0000250}.
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Disease Associations |
Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]: Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. {ECO:0000269PubMed:15880705, ECO:0000269PubMed:7607655, ECO:0000269PubMed:7876225, ECO:0000269PubMed:8004099, ECO:0000269PubMed:8304336, ECO:0000269PubMed:8782043, ECO:0000269PubMed:9067753, ECO:0000269PubMed:9852679}. 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 |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001073
Complement C1q protein
IPR008160
Collagen triple helix repeat
IPR008983
Tumour necrosis factor-like domain
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PFAM |
PF00386
PF01391
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PRINTS |
PR00007
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PIRSF |
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SMART |
SM00110
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TIGRFAMs |
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Modification |
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SwissProt |
Q03692
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PhosphoSite |
PhosphoSite-
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TrEMBL |
Q5QPC8
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UniProt Splice Variant |
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Entrez Gene |
1300
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UniGene |
Hs.703146
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RefSeq |
XP_006715395
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HUGO |
HGNC:2185
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OMIM |
120110
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CCDS |
CCDS5105
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HPRD |
00357
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IMGT |
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EMBL |
AL121963
BC130621
BC130623
CH471051
M74050
S68531
X58879
X60382
X65120
X72579
X72580
X98568
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GenPept |
AAA61221
AAC60615
AAI30622
AAI30624
CAA41686
CAA42933
CAA46236
CAA51170
CAA67178
CAB87590
EAW48240
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