SERPINH1
Serpin Family H Member 1 (Collagen Binding Protein 1)
Gene Information Card
| Symbol | SERPINH1 |
|---|---|
| Full Name | Serpin Family H Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.5 |
| NCBI Gene ID | 871 ncbi.nlm.nih.gov/gene/871 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | P50454 |
| OMIM ID | 600943 |
| HGNC ID | 1546 |
| Aliases | CBP1, HSP47, SERPINH2, gp46, colligin-1 |
Description
SERPINH1 (serpin family H member 1) encodes a 47 kDa heat shock protein (HSP47) localized in the endoplasmic reticulum. It functions as a collagen-specific molecular chaperone, binding to procollagen chains and facilitating proper triple-helix formation, folding, and secretion. Loss-of-function mutations impair collagen maturation and lead to connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis Imperfecta Type X | Loss-of-function mutations in SERPINH1 disrupt collagen chaperone activity, causing defective collagen folding and severe bone fragility. | OMIM #613848; ClinVar; NCBI |
| Bruck Syndrome (rare) | Similar collagen misfolding due to SERPINH1 deficiency, leading to joint contractures and bone fragility. | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 32.5 | High |
| Skin | 28.1 | High |
| Heart | 22.3 | Medium |
| Liver | 15.7 | Medium |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 45.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 18.9 | Moderate expression |
| MCF7 (breast adenocarcinoma) | 12.4 | Moderate expression |
| K562 (leukemia) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.233C>T (p.Pro78Leu) | Missense | Rare | Disrupts collagen binding; associated with OI type X |
| c.589G>A (p.Gly197Arg) | Missense | Rare | Impaired chaperone function; severe OI phenotype |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; lethal OI |
Mutation functional classification
Loss of Function (LOF)
Most SERPINH1 mutations are loss-of-function, leading to reduced or absent HSP47 protein, defective collagen folding, and osteogenesis imperfecta.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • collagen binding | • serine-type endopeptidase inhibitor activity |
| • protein folding chaperone | • endoplasmic reticulum lumen |
| • collagen biosynthetic process | • response to unfolded protein |
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Protein folding (UniProt)
Protein Summary
HSP47 is a 418-amino acid glycoprotein (47 kDa) localized to the endoplasmic reticulum. It binds specifically to procollagen chains, preventing premature aggregation and ensuring correct triple-helix formation. It is essential for collagen secretion and extracellular matrix integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINH1 Knockout HEK293 Cell Line | EDJ-KQ4200 | Human | 871 | Details Get a Quote |
| SERPINH1 Knockout A-549 Cell Line | EDJ-KQ26665 | Human | 871 | Details Get a Quote |
| SERPINH1 Knockout HCT 116 Cell Line | EDJ-KQ26666 | Human | 871 | Details Get a Quote |
| SERPINH1 Knockout HeLa Cell Line | EDJ-KQ26667 | Human | 871 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
