Gene
capn1a
- ID
- ZDB-GENE-040426-1263
- Name
- calpain 1, (mu/I) large subunit a
- Symbol
- capn1a Nomenclature History
- Previous Names
-
- capn1
- zgc:63788
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and calcium-dependent cysteine-type endopeptidase activity. Involved in brain development and branchiomotor neuron axon guidance. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 76. Is expressed in brain. Orthologous to several human genes including CAPN11 (calpain 11).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63788 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Gan-Or et al., 2016
- 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:B8A6G0
|
704 | |||||||||||
|
UniProtKB:Q7SYA9
|
704 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
capn1a-201
(1)
|
Ensembl | 2,983 nt | ||
| mRNA |
capn1a-202
(1)
|
Ensembl | 4,481 nt |
Interactions and Pathways
No data available
Plasmids
No data available