Homo sapiens Protein: COL12A1
Summary
InnateDB Protein IDBP-92647.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL12A1
Protein Name collagen, type XII, alpha 1
Synonyms BA209D8.1; COL12A1L; DJ234P15.1;
Species Homo sapiens
Ensembl Protein ENSP00000305147
InnateDB Gene IDBG-92641 (COL12A1)
Protein Structure
UniProt Annotation
Function Type XII collagen interacts with type I collagen- containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix. {ECO:0000250}.
Subcellular Localization Secreted, extracellular space, extracellular matrix {ECO:0000250}.
Disease Associations
Tissue Specificity Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found in lung, placenta, kidney and a squamous cell carcinoma cell line. Isoform 1 is also present in the corneal epithelial Bowman's membrane (BM) and the interfibrillar matrix of the corneal stroma, but it is not detected in the limbal BM. {ECO:0000269PubMed:9344363}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR001791 Laminin G domain
IPR002035 von Willebrand factor, type A
IPR003961 Fibronectin, type III
IPR008160 Collagen triple helix repeat
IPR008985 Concanavalin A-like lectin/glucanases superfamily
PFAM PF00054
PF02210
PF00092
PF00041
PF01108
PF01391
PRINTS
PIRSF
SMART SM00210
SM00282
SM00327
SM00060
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q99715
PhosphoSite PhosphoSite-Q99715
TrEMBL
UniProt Splice Variant
Entrez Gene 1303
UniGene Hs.101302
RefSeq NP_542376
HUGO HGNC:2188
OMIM 120320
CCDS CCDS43481
HPRD 00378
IMGT
EMBL AF061871 AH004088 AL080250 AL096771 AL354664 U68139 U73778 U73779
GenPept AAB23937 AAC01506 AAC51244 AAC83578 AAD40483 CAH71310 CAI19898 CAI19908