Gene
capn1b
- ID
- ZDB-GENE-060503-491
- Name
- calpain 1, (mu/I) large subunit b
- Symbol
- capn1b Nomenclature History
- Previous Names
-
- si:ch211-203k12.4
- si:dkeyp-101g1.3
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and calcium-dependent cysteine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 76. Is expressed in brain; embryonic structure; myotome; and neurons. Orthologous to several human genes including CAPN11 (calpain 11).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 76 | Alliance | Spastic paraplegia 76, autosomal recessive | 616907 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR000169 | Cysteine peptidase, cysteine active site |
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR001300 | Peptidase C2, calpain, catalytic domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR022682 | Peptidase C2, calpain, large subunit, domain III |
| Domain | IPR022683 | Peptidase C2, calpain, domain III |
| Domain | IPR033883 | Calpain subdomain III |
| Family | IPR022684 | Peptidase C2, calpain family |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036213 | Calpain large subunit, domain III superfamily |
| Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
Domain Details Per Protein
| Protein | Length | Calpain large subunit, domain III superfamily | Calpain subdomain III | Cysteine peptidase, cysteine active site | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Papain-like cysteine peptidase superfamily | Peptidase C2, calpain, catalytic domain | Peptidase C2, calpain, domain III | Peptidase C2, calpain family | Peptidase C2, calpain, large subunit, domain III |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BLC4
|
704 | |||||||||||
|
UniProtKB:A5PMP1
|
700 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
capn1b-201
(1)
|
Ensembl | 2,103 nt |
Interactions and Pathways
No data available
Plasmids
No data available