Symbol: Name: ID: |
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) GFS:4668 |
Gene name: | SERPINH1 |
Chromosome: | 11q13.5 |
Previous Symbols: | CBP1, CBP2, SERPINH2 |
Previous Names: | serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)" |
Aliases: | HSP47, colligen |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:88283 | Rat Genome Database ID: | RGD:69302 |
HGNC ID: | HGNC:1546 | RefSeq IDs: | NM_001235 |
Entrez Gene ID: | 871 | Ensembl Gene ID: | ENSG00000149257 |
VEGA IDs: | UniProt ID: | P50454 | |
UCSC ID: | uc001owr.2 | OMIM ID: | 600943 |
Pubmed: | PMID7656593 PMID 9533029 | ||
CCDS IDs: | CCDSCCDS8239.1 |
Heat shock protein 47, also known as SERPINH1 is a serpin which serves as a human chaperone protein for collagen.
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].
Function: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Products for SERPINH1 gene
Catalog | Product Name | Application | Company |
GFS:E04668 | serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1); ELISA kit | ELISA | n/a |
GFS:A04668 | serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1); Anti | ANTIBODIES | n/a |
GFS:P04668 | serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1); Protien | Protien | n/a |