Serpinh1 - serine (or cysteine) peptidase inhibitor, clade H, member 1 (house mouse)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-02-01
Description
Enables unfolded protein binding activity. Acts upstream of or within several processes, including chondrocyte development involved in endochondral bone morphogenesis; collagen biosynthetic process; and collagen fibril organization. Located in endoplasmic reticulum. Is expressed in several structures, including central nervous system; embryo mesenchyme; eye; metanephros; and skeleton. Used to study osteogenesis imperfecta type 10. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 10 and preterm premature rupture of the membranes. Orthologous to human SERPINH1 (serpin family H member 1).
- BERF-1
- Cbp1
- Cbp2
- Hsp47
- J6
- Serpinh2
- gp46
- serpin H1
- 47 kDa heat shock protein
- beta enolase repressor factor 1
- collagen binding protein 1
- colligin
- serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1
- serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2
- serine protease inhibitor J6
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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