Version 5.4
Homo sapiens Gene: COL12A1
Summary
InnateDB Gene IDBG-92641.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL12A1
Gene Name collagen, type XII, alpha 1
Synonyms BA209D8.1; COL12A1L; DJ234P15.1
Species Homo sapiens
Ensembl Gene ENSG00000111799
Encoded Proteins
IDBP-92645
collagen, type XII, alpha 1
IDBP-92647
collagen, type XII, alpha 1
IDBP-384077
collagen, type XII, alpha 1
IDBP-384080
collagen, type XII, alpha 1
IDBP-384081
collagen, type XII, alpha 1
IDBP-475396
collagen, type XII, alpha 1
IDBP-474803
collagen, type XII, alpha 1
IDBP-813636
collagen, type XII, alpha 1
IDBP-813637
collagen, type XII, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:75084326-75206051
Strand Reverse strand
Band q14.1
Transcripts
ENST00000322507 ENSP00000325146
ENST00000345356 ENSP00000305147
ENST00000425443 ENSP00000399812
ENST00000419671 ENSP00000393217
ENST00000416123 ENSP00000412864
ENST00000483888 ENSP00000421216
ENST00000511023
ENST00000493109 ENSP00000423423
ENST00000474564
ENST00000486533
ENST00000615798 ENSP00000483232
ENST00000611354 ENSP00000481931
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:0030020 extracellular matrix structural constituent conferring tensile strength
Biological Process
GO:0001501 skeletal system development
GO:0007155 cell adhesion
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005595 collagen type XII trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032332
View Gene Order
ENSBTAG00000020056
Not yet available
Pathways
NETPATH
REACTOME
REACT_121139
Collagen biosynthesis and modifying enzymes pathway
REACT_150401
Collagen degradation pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
REACT_120729
Collagen formation pathway
KEGG
hsa04974
Protein digestion and absorption pathway
INOH
INOH website
Integrin signaling pathway pathway
PID NCI
Cross-References
SwissProt Q99715
TrEMBL D6RGG3 H0Y5N9 H0Y991
UniProt Splice Variant
Entrez Gene 1303
UniGene Hs.101302
RefSeq NM_004370 NM_080645
HUGO HGNC:2188
OMIM 120320
CCDS CCDS43481 CCDS43482
HPRD
IMGT
EMBL AF061871 AH004088 AL080250 AL096771 AL354664 U68139 U73778 U73779
GenPept AAB23937 AAC01506 AAC51244 AAC83578 AAD40483 CAH71310 CAI19898 CAI19908
RNA Seq Atlas 1303

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