serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
Symbol
SERPINH1
(may also be known as: None)
Organism
Human
Description
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Orthologs
Symbol | Species | |
---|---|---|
serpinh1a | Danio rerio | |
Serpinh1 | Mus musculus | |
Serpinh1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category | |
---|---|---|---|
GO:0006950 | response to stress | biological_process | |
GO:0006986 | response to unfolded protein | biological_process | |
GO:0010951 | negative regulation of endopeptidase activity | biological_process | |
GO:0030162 | regulation of proteolysis | biological_process | |
GO:0030199 | collagen fibril organization | biological_process | |
GO:0032964 | collagen biosynthetic process | biological_process | |
GO:0051604 | protein maturation | biological_process | |
GO:0005581 | collagen | cellular_component | |
GO:0005737 | cytoplasm | cellular_component | |
GO:0005783 | endoplasmic reticulum | cellular_component | |
GO:0005788 | endoplasmic reticulum lumen | cellular_component | |
GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment | cellular_component | |
GO:0004867 | serine-type endopeptidase inhibitor activity | molecular_function | |
GO:0005518 | collagen binding | molecular_function | |
GO:0051082 | unfolded protein binding | molecular_function | |