Homo sapiens Gene: COL11A1
Summary
InnateDB Gene IDBG-100578.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL11A1
Gene Name collagen, type XI, alpha 1
Synonyms CO11A1; COLL6; STL2;
Species Homo sapiens
Ensembl Gene ENSG00000060718
Encoded Proteins
collagen, type XI, alpha 1
collagen, type XI, alpha 1
collagen, type XI, alpha 1
collagen, type XI, alpha 1
collagen, type XI, alpha 1
collagen, type XI, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:102876467-103108496
Strand Reverse strand
Band p21.1
Transcripts
ENST00000370096 ENSP00000359114
ENST00000358392 ENSP00000351163
ENST00000353414 ENSP00000302551
ENST00000427239 ENSP00000408640
ENST00000447608 ENSP00000410177
ENST00000470170
ENST00000512756 ENSP00000426533
ENST00000465209
ENST00000461720
ENST00000475980
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 2 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0030674 protein binding, bridging
GO:0046872 metal ion binding
GO:0050840 extracellular matrix binding
Biological Process
GO:0001502 cartilage condensation
GO:0001503 ossification
GO:0002063 chondrocyte development
GO:0003007 heart morphogenesis
GO:0006029 proteoglycan metabolic process
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0035989 tendon development
GO:0042472 inner ear morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0051216 cartilage development
GO:0055010 ventricular cardiac muscle tissue morphogenesis
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005592 collagen type XI trimer
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
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
Non-integrin membrane-ECM interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Collagen formation pathway
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
Amoebiasis pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.523446 Hs.602186
RefSeq NM_001190709 NM_001854 NM_080629 NM_080630
HUGO
OMIM
CCDS CCDS53348 CCDS778 CCDS780
HPRD 00375
IMGT
EMBL
GenPept
RNA Seq Atlas