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
collagen, type XII, alpha 1
collagen, type XII, alpha 1
collagen, type XII, alpha 1
collagen, type XII, alpha 1
collagen, type XII, alpha 1
collagen, type XII, alpha 1
collagen, type XII, alpha 1
collagen, type XII, alpha 1
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
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
Collagen degradation pathway
Collagen formation pathway
KEGG
Protein digestion and absorption pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.101302
RefSeq NM_004370 NM_080645
HUGO
OMIM
CCDS CCDS43481 CCDS43482
HPRD 00378
IMGT
EMBL
GenPept
RNA Seq Atlas