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 have ATP binding activity. Predicted to be involved in neurotransmitter secretion. Predicted to localize to synaptic vesicle membrane. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability. Is expressed in DEL; nervous system; spinal cord neural tube; and yolk syncytial layer. 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