Homo sapiens Gene: COL9A1
Summary
InnateDB Gene IDBG-92000.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL9A1
Gene Name collagen, type IX, alpha 1
Synonyms DJ149L1.1.2; EDM6; MED; STL4;
Species Homo sapiens
Ensembl Gene ENSG00000112280
Encoded Proteins
collagen, type IX, alpha 1
collagen, type IX, alpha 1
collagen, type IX, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:70215061-70303083
Strand Reverse strand
Band q13
Transcripts
ENST00000360859
ENST00000357250 ENSP00000349790
ENST00000320755 ENSP00000315252
ENST00000370496 ENSP00000359527
ENST00000447041
ENST00000486080
ENST00000489611
ENST00000493682
ENST00000489861
ENST00000470652
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:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0046872 metal ion binding
Biological Process
GO:0001894 tissue homeostasis
GO:0003417 growth plate cartilage development
GO:0007411 axon guidance
GO:0009887 organ morphogenesis
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:0005594 collagen type IX
GO:0005788 endoplasmic reticulum lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
NCAM signaling for neurite out-growth pathway
Degradation of the extracellular matrix pathway
NCAM1 interactions pathway
Axon guidance pathway
Signal Transduction pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Collagen degradation pathway
Signaling by PDGF pathway
Collagen formation pathway
KEGG
Protein digestion and absorption pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P20849
TrEMBL
UniProt Splice Variant
Entrez Gene 1297
UniGene Hs.590892 Hs.637684
RefSeq NM_001851 NM_078485 XM_006715331
HUGO HGNC:2217
OMIM 120210
CCDS CCDS47447 CCDS4971
HPRD 00367
IMGT
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
GenPept AAA53474 AAA53475 AAC33527 AAC33528 AAH15409 AAH63646 CAA38276 CAA38277 CAI19590 CAI19591 CAI42321
RNA Seq Atlas 1297