Aliases for COL14A1 Gene
External Ids for COL14A1 Gene
Previous HGNC Symbols for COL14A1 Gene
Previous GeneCards Identifiers for COL14A1 Gene
This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
GeneCards Summary for COL14A1 Gene
COL14A1 (Collagen Type XIV Alpha 1) is a Protein Coding gene. Diseases associated with COL14A1 include keratoderma, palmoplantar, punctate type ia and punctate palmoplantar keratoderma. Among its related pathways are Protein digestion and absorption and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include poly(A) RNA binding and extracellular matrix structural constituent. An important paralog of this gene is MATN1.
UniProtKB/Swiss-Prot for COL14A1 Gene
Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity).