Gene
syn1
- ID
- ZDB-GENE-081105-93
- Name
- synapsin I
- Symbol
- syn1 Nomenclature History
- Previous Names
-
- si:dkey-90n12.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity and actin binding activity. Predicted to be involved in neurotransmitter secretion. Predicted to be located in Golgi apparatus and synaptic vesicle. Predicted to be active in synaptic vesicle membrane. Is expressed in DEL; nervous system; spinal cord neural tube; and yolk syncytial layer. Human ortholog(s) of this gene implicated in X-linked epilepsy with variable learning disabilities and behavior disorders and non-syndromic X-linked intellectual disability 50. Orthologous to human SYN1 (synapsin I).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 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 |
---|---|---|---|
non-syndromic X-linked intellectual disability 50 | Alliance | Intellectual developmental disorder, X-linked 50 | 300115 |
X-linked epilepsy with variable learning disabilities and behavior disorders | Alliance | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 300491 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR019735 | Synapsin, conserved site |
Domain | IPR020897 | Synapsin, pre-ATP-grasp domain |
Domain | IPR020898 | Synapsin, ATP-binding domain |
Family | IPR001359 | Synapsin |
Homologous_superfamily | IPR013815 | ATP-grasp fold, subdomain 1 |
Homologous_superfamily | IPR016185 | Pre-ATP-grasp domain superfamily |
PTM | IPR019736 | Synapsin, phosphorylation site |
Domain Details Per Protein
Protein | Length | ATP-grasp fold, subdomain 1 | Pre-ATP-grasp domain superfamily | Synapsin | Synapsin, ATP-binding domain | Synapsin, conserved site | Synapsin, phosphorylation site | Synapsin, pre-ATP-grasp domain |
---|---|---|---|---|---|---|---|---|
UniProtKB:B0UXI4
|
670 | |||||||
UniProtKB:A0A8M2BEL9
|
633 |
Interactions and Pathways
No data available
Plasmids
No data available