Serpinh1 - serine (or cysteine) peptidase inhibitor, clade H, member 1 Gene
Also Known as J6; Cbp1; Cbp2; gp46; Hsp47; BERF-1; Serpinh2
Species: Mus musculus
Summary
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; lower jaw tooth; 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). [provided by Alliance of Genome Resources, Apr 2022]
Serpinh1 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001111043.2 | NP_001104513.1 | serpin H1 precursor |
| NM_001111044.2 | NP_001104514.1 | serpin H1 precursor |
| NM_001285776.2 | NP_001272705.1 | serpin H1 precursor |
| NM_001412217.1 | NP_001399146.1 | serpin H1 precursor |
| NM_001412218.1 | NP_001399147.1 | serpin H1 precursor |
| NM_001412219.1 | NP_001399148.1 | serpin H1 precursor |
| NM_001412220.1 | NP_001399149.1 | serpin H1 precursor |
| NM_001412221.1 | NP_001399150.1 | serpin H1 precursor |
| NM_001412222.1 | NP_001399151.1 | serpin H1 precursor |
| NM_009825.3 | NP_033955.2 | serpin H1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10862616 | MGI |
| enables unfolded protein binding |
IDA
IDA: Inferred from direct assay
|
10862616 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within chondrocyte development involved in endochondral bone morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
22492985 | MGI |
| acts upstream of or within collagen biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
10995453 | MGI |
| acts upstream of or within collagen fibril organization |
IMP
IMP: Inferred from mutant phenotype
|
10995453 | MGI |
| acts upstream of or within protein maturation |
IMP
IMP: Inferred from mutant phenotype
|
10995453 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
8018053 | MGI |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
21606205 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
serpin H1 |
|
|