ZFIN is now using GRCz12tu for Genomic Data
Gene
unc13a
- ID
- ZDB-GENE-140722-1
- Name
- unc-13 homolog A (C. elegans)
- Symbol
- unc13a Nomenclature History
- Previous Names
-
- si:dkey-110c1.7
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calmodulin binding activity and syntaxin-1 binding activity. Predicted to be involved in glutamatergic synaptic transmission and regulated exocytosis. Predicted to be located in cytoplasm; membrane; and presynapse. Predicted to be active in several cellular components, including neuromuscular junction; presynaptic membrane; and synaptic vesicle membrane. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis. Orthologous to human UNC13A (unc-13 homolog A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Sánchez et al., 2018
- 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 |
|---|---|---|---|
| Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech | 621455 | ||
| Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures | 621456 | ||
| ?Intellectual development disorder with seizures and dysmorphic facies | 621457 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000008 | C2 domain |
| Domain | IPR002219 | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain |
| Domain | IPR010439 | MUN domain |
| Domain | IPR014770 | Munc13 homology 1 |
| Domain | IPR014772 | Mammalian uncoordinated homology 13, domain 2 |
| Domain | IPR037302 | Protein Unc-13, C2B domain |
| Family | IPR027080 | Protein Unc-13 |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
| Homologous_superfamily | IPR046349 | C1-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | C1-like domain superfamily | C2 domain | C2 domain superfamily | Mammalian uncoordinated homology 13, domain 2 | Munc13 homology 1 | MUN domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | Protein Unc-13 | Protein Unc-13, C2B domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AXQ9 | InterPro | 1784 | |||||||||
| UniProtKB:A0A8M3AUR4 | InterPro | 1763 | |||||||||
| UniProtKB:A0A8M3AUQ9 | InterPro | 1806 | |||||||||
| UniProtKB:Q1LXS6 | InterPro | 1742 | |||||||||
| UniProtKB:A0A8M3AN14 | InterPro | 1818 | |||||||||
| UniProtKB:A0A8M3B5J4 | InterPro | 1797 | |||||||||
| UniProtKB:A0A8M3AMA8 | InterPro | 1799 | |||||||||
| UniProtKB:A0A8M3AXQ5 | InterPro | 1816 | |||||||||
| UniProtKB:A0A8M3AN19 | InterPro | 1787 | |||||||||
| UniProtKB:A0A8M9PRV9 | InterPro | 1223 | |||||||||
| UniProtKB:A0AB32TD55 | InterPro | 1814 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:dkey-110c1.7-202
(1)
|
Ensembl | 1,584 nt | ||
| mRNA |
si:dkey-110c1.7-203
(1)
|
Ensembl | 3,832 nt | ||
| mRNA |
unc13a-201
(1)
|
Ensembl | 5,229 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance