Gene

COL27A1

Species
Homo sapiens
Symbol
COL27A1
Name
collagen type XXVII alpha 1 chain
Synonyms
  • collagen alpha-1(XXVII) chain
  • collagen type XXVII alpha 1
Biotype
protein coding gene
Automated Description
An extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in several processes, including collagen fibril organization; endothelial cell morphogenesis; and notochord development. Predicted to act upstream of or within extracellular matrix organization and growth plate cartilage chondrocyte development. Located in collagen-containing extracellular matrix.
RGD Description
This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24637
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
114.16M114.18M114.20M114.22M114.24M114.26M114.28M114.30M

Sequence Details

Loading...

Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions