Gene
l1cama
- ID
- ZDB-GENE-990415-10
- Name
- L1 cell adhesion molecule, paralog a
- Symbol
- l1cama Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have axon guidance receptor activity. Predicted to be involved in homophilic cell adhesion via plasma membrane adhesion molecules; positive regulation of axon extension; and synapse organization. Predicted to localize to axonal growth cone; neuronal cell body; and plasma membrane. Human ortholog(s) of this gene implicated in MASA syndrome; hydrocephalus; ovarian carcinoma; pancreatic cancer; and schizophrenia. Is expressed in gut; nervous system; presumptive enteric nervous system; and solid lens vesicle. Orthologous to human L1CAM (L1 cell adhesion molecule).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 25 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu320 (12 images)
- eu917 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Wolman et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hydrocephalus | Alliance | Hydrocephalus, congenital, X-linked | 307000 |
| MASA syndrome | Alliance | MASA syndrome | 303350 |
| ?Corpus callosum, partial agenesis of | 304100 |
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 | IPR013151 | Immunoglobulin-like beta-sandwich domain |
| Domain | IPR026966 | Neurofascin/L1/NrCAM, C-terminal 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 | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like beta-sandwich domain | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Neurofascin/L1/NrCAM, C-terminal domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1R9X3
|
1271 | ||||||||||
|
UniProtKB:Q90479
|
216 | ||||||||||
|
UniProtKB:Q6U7I4
|
1271 | ||||||||||
|
UniProtKB:A0A8M2B9E7
|
1267 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
l1cama-201
(1)
|
Ensembl | 4,119 nt | ||
| mRNA |
l1cama-202
(1)
|
Ensembl | 3,970 nt |
Interactions and Pathways
No data available
Plasmids
No data available