Serpinh1 Gene Summary [Mouse]
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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Serpinh1 |
| Official Name | serine (or cysteine) peptidase inhibitor, clade H, member 1 [Source:MGI Symbol;Acc:MGI:88283] |
| Ensembl ID | ENSMUSG00000070436 |
| Bio databases IDs | |
| Aliases | serine (or cysteine) peptidase inhibitor, clade H, member 1 |
| Synonyms | AsTP3, BERF-1, CBP1, CBP2, collagen-binding protein 1, COLLIGEN, COLLIGIN-2, Gp46, HSP47, J6, OI10, PIG14, PPROM, RA-A47, serine (or cysteine) peptidase inhibitor, clade H, member 1, serpin family H member 1, SERPINH2 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Serpinh1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SERine Proteinase INhibitors (serpin) family
- serine protease inhibitor activity
- collagen binding
- protein binding
- Serpin (serine protease inhibitor)
Pathways
Biological processes and signaling networks where the Serpinh1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- esophagogastric junction cancer
- colorectal cancer
- heart disease
- idiopathic scoliosis
- Duchenne muscular dystrophy
- coronary artery disease
- angioimmunoblastic T-cell lymphoma
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- epithelial cancer
role in cell
- expression in
- phosphorylation in
- apoptosis
- quantity
- invasion by
- proliferation
- migration
- growth
- formation
- binding
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Cytoplasm
- cellular membrane
- Endoplasmic Reticulum
- ER-to-Golgi intermediate compartment
- endoplasmic reticulum lumen
- endoplasmic reticulum exit sites
- microsomal membrane
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Serpinh1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of endopeptidase activity
- protein maturation
- collagen fibril organization
- collagen biosynthetic process
- response to unfolded protein
- chondrocyte development involved in endochondral bone morphogenesis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- membrane raft
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- RNA binding
- protein binding
- collagen binding
- unfolded protein binding