Version 5.4
Homo sapiens Protein: COL10A1
Summary
InnateDB Protein IDBP-95632.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL10A1
Protein Name collagen, type X, alpha 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000243222
InnateDB Gene IDBG-95630 (COL10A1)
Protein Structure
UniProt Annotation
Function Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
Subcellular Localization Secreted, extracellular space, extracellular matrix {ECO:0000250}.
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.
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.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0001501 skeletal system development
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005788 endoplasmic reticulum lumen
Protein Structure and Domains
PDB ID
InterPro IPR001073 Complement C1q protein
IPR008160 Collagen triple helix repeat
IPR008983 Tumour necrosis factor-like domain
PFAM PF00386
PF01391
PRINTS PR00007
PIRSF
SMART SM00110
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q03692
PhosphoSite PhosphoSite-
TrEMBL Q5QPC8
UniProt Splice Variant
Entrez Gene 1300
UniGene Hs.703146
RefSeq NP_000484
HUGO HGNC:2185
OMIM 120110
CCDS CCDS5105
HPRD 00357
IMGT
EMBL AL121963 BC130621 BC130623 CH471051 M74050 S68531 X58879 X60382 X65120 X72579 X72580 X98568
GenPept AAA61221 AAC60615 AAI30622 AAI30624 CAA41686 CAA42933 CAA46236 CAA51170 CAA67178 CAB87590 EAW48240

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca