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 endoplasmic reticulum. Is expressed in several structures, including ectoderm; fin; germ ring; mesenchyme derived from head mesoderm; and mesoderm. 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).
- 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