SERPINH1 Gene Summary
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]
Details
| Type | Protein Coding |
| Official Symbol | SERPINH1 |
| Official Name | serpin family H member 1 [Source:HGNC Symbol;Acc:HGNC:1546] |
| Ensembl ID | ENSG00000149257 |
| Bio databases IDs | |
| Aliases | serpin family H member 1, collagen binding protein 1, colligin, heat shock protein 47 |
| 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 | Human, Homo sapiens |
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 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 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 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