Homo sapiens Gene: COL6A5
Summary
InnateDB Gene IDBG-56303.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL6A5
Gene Name collagen, type VI, alpha 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000172752
Encoded Proteins
collagen, type VI, alpha 5
collagen, type VI, alpha 5
collagen, type VI, alpha 5
collagen, type VI, alpha 5
collagen, type VI, alpha 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a collagen that contains N- and C-terminal von Willebrand factor A-like domains. The encoded protein may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Sequence polymorphisms in this gene have been linked to atopic dermatitis (eczema). Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene.[provided by RefSeq, Jun 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:130345516-130484844
Strand Forward strand
Band q22.1
Transcripts
ENST00000312481 ENSP00000309762
ENST00000373157 ENSP00000362250
ENST00000265379 ENSP00000265379
ENST00000512836 ENSP00000422898
ENST00000512482 ENSP00000424968
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [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
Biological Process
GO:0007155 cell adhesion
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:0005581 collagen trimer
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
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
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Signaling by PDGF pathway
Collagen formation pathway
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL H0Y9T2
UniProt Splice Variant
Entrez Gene 256076
UniGene Hs.205403
RefSeq NM_001278298 NM_153264
HUGO HGNC:26674
OMIM 611916
CCDS
HPRD 08196
IMGT
EMBL AC093004 AC117398
GenPept
RNA Seq Atlas 256076