Gene
serpinh1b
- ID
- ZDB-GENE-990415-93
- Name
- serpin peptidase inhibitor, clade H (heat shock protein 47), member 1b
- Symbol
- serpinh1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase inhibitor activity. Involved in fin regeneration. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 10 and preterm premature rupture of the membranes. Is expressed in several structures, including ectoderm; fin; germ ring; mesenchyme derived from head mesoderm; and mesoderm. Orthologous to human SERPINH1 (serpin family H member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb216 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Bhadra et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| osteogenesis imperfecta type 10 | Alliance | Osteogenesis imperfecta, type X | 613848 |
| preterm premature rupture of the membranes | Alliance | {Preterm premature rupture of the membranes, susceptibility to} | 610504 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023795 | Serpin, conserved site |
| Domain | IPR023796 | Serpin domain |
| Family | IPR000215 | Serpin family |
| Homologous_superfamily | IPR036186 | Serpin superfamily |
| Homologous_superfamily | IPR042178 | Serpin superfamily, domain 1 |
| Homologous_superfamily | IPR042185 | Serpin superfamily, domain 2 |
Domain Details Per Protein
| Protein | Length | Serpin, conserved site | Serpin domain | Serpin family | Serpin superfamily | Serpin superfamily, domain 1 | Serpin superfamily, domain 2 |
|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QQ04
|
405 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
serpinh1b-201
(1)
|
Ensembl | 2,084 nt | ||
| mRNA |
serpinh1b-202
(1)
|
Ensembl | 3,295 nt | ||
| mRNA |
serpinh1b-204
(1)
|
Ensembl | 848 nt | ||
| ncRNA |
serpinh1b-003
(1)
|
Ensembl | 804 nt | ||
| ncRNA |
serpinh1b-004
(1)
|
Ensembl | 1,130 nt |
Interactions and Pathways
No data available
Plasmids
No data available