Gene
l1camb
- ID
- ZDB-GENE-980526-512
- Name
- L1 cell adhesion molecule, paralog b
- Symbol
- l1camb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable cell-cell adhesion mediator activity. Involved in cartilage morphogenesis and positive regulation of gene expression. Acts upstream of or within axon regeneration. Predicted to be located in axonal growth cone. Predicted to be active in axon and plasma membrane. Is expressed in nervous system; pectoral fin; and pharyngeal arch. Human ortholog(s) of this gene implicated in MASA syndrome; hydrocephalus; ovarian carcinoma; pancreatic cancer; and schizophrenia. Orthologous to human L1CAM (L1 cell adhesion molecule).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d824 (1 image)
Wild Type Expression Summary
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:Q6U7I5
|
1269 | ||||||||||
|
UniProtKB:A0A8M3AY05
|
1094 | ||||||||||
|
UniProtKB:Q90478
|
1197 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
l1camb-201
(1)
|
Ensembl | 4,529 nt | ||
| ncRNA |
nadl1.1-002
(1)
|
Ensembl | 405 nt |
Interactions and Pathways
No data available
Plasmids
No data available