Gene
dscaml1
- ID
- ZDB-GENE-110601-1
- Name
- Down syndrome cell adhesion molecule like 1
- Symbol
- dscaml1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable cell-cell adhesion mediator activity. Predicted to be involved in homophilic cell adhesion via plasma membrane adhesion molecules and nervous system development. Predicted to act upstream of or within nervous system development. Predicted to be located in membrane and synapse. Predicted to be active in axon and plasma membrane. Is expressed in brain; ciliary marginal zone; retinal ganglion cell layer; and retinal inner nuclear layer. Used to study ocular motility disease and ocular motor apraxia, Cogan type. Orthologous to human DSCAML1 (DS cell adhesion molecule like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| ocular motor apraxia, Cogan type | dscaml1vt1/+; cu2Tg | standard conditions | Ma ??? et al., 2019 |
| ocular motility disease | dscaml1vt1/+; cu2Tg | standard conditions | Ma ??? et al., 2019 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR013106 | Immunoglobulin V-set domain |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Immunoglobulin V-set domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3ASJ8 | InterPro | 2144 | |||||||||
| UniProtKB:A0A8M3AIC6 | InterPro | 2145 | |||||||||
| UniProtKB:A0A8M2B3L4 | InterPro | 2157 | |||||||||
| UniProtKB:A0A8M2B4A1 | InterPro | 2158 | |||||||||
| UniProtKB:A0A0R4IHP4 | InterPro | 1579 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dscaml1-201
(1)
|
Ensembl | 4,740 nt | ||
| mRNA |
dscaml1-202
(1)
|
Ensembl | 4,188 nt |
Interactions and Pathways
No data available
Plasmids
No data available