Homo sapiens Gene: COL10A1
Summary
InnateDB Gene IDBG-95630.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL10A1
Gene Name collagen, type X, alpha 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000123500
Encoded Proteins
collagen, type X, alpha 1
collagen, type X, alpha 1
collagen, type X, alpha 1
collagen, type X, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:116118923-116158747
Strand Reverse strand
Band q22.1
Transcripts
ENST00000243222 ENSP00000243222
ENST00000327673 ENSP00000327368
ENST00000452729 ENSP00000411285
ENST00000418500 ENSP00000392712
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:0001958 endochondral ossification
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0051216 cartilage development
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005581 collagen trimer
GO:0005788 endoplasmic reticulum lumen
GO:0005938 cell cortex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Integrin cell surface interactions pathway
Non-integrin membrane-ECM interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Collagen formation pathway
KEGG
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q03692
TrEMBL Q5QPC7 Q5QPC8
UniProt Splice Variant
Entrez Gene 1300
UniGene Hs.520339 Hs.672812 Hs.703146
RefSeq NM_000493 XM_006715333 XM_006715332
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
RNA Seq Atlas 1300