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Repository for lectin-assisted multimodality data
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MIRAGE
L1 cell adhesion molecule
Summary
- Gene Symbol
-
- L1CAM
- Aliases
-
- CAML1
- CD171
- NCAM-L1
- neural cell adhesion molecule L1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell adhesion
- Cell membrane
- Cell projection
- Developmental protein
- Differentiation
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Glycoprotein
- Hereditary spastic paraplegia
- Hirschsprung disease
- Immunoglobulin domain
- Intellectual disability
- Neurogenesis
- Phosphoprotein
- Reference proteome
- Repeat
- Signal
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| P32004 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| chemotaxis | ||
| cell adhesion | ||
| homophilic cell adhesion via plasma membrane adhesion molecules | ||
| cell-matrix adhesion | ||
| nervous system development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane | ||
| focal adhesion | ||
| cell surface |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| axon guidance receptor activity | ||
| protein domain specific binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- cell adhesion molecule
- Functional Category
-
- G: Carbohydrate transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| brain development |
| cell-cell adhesion mediator activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060246 | MASA syndrome | |
| DOID:10908 | hydrocephalus | |
| DOID:1793 | pancreatic cancer | |
| DOID:4001 | ovarian carcinoma | |
| DOID:5419 | schizophrenia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000486 | Strabismus |
| HP:0000639 | Nystagmus |
| HP:0000750 | Delayed speech and language development |
| HP:0001181 | Adducted thumb |
| HP:0001188 | Hand clenching |
| Disease ID | Disease Name |
|---|---|
| OMIM:303350 |
|
| ORPHA:2466 |
|
| ORPHA:2182 |
|
| OMIM:307000 |
|
| OMIM:304100 |
|
| ORPHA:306617 |
|
| ORPHA:1497 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 3897 | Xenbase:XB-GENE-5914700 | ||
| 4897 | FB:FBgn0264975 | ||
| 10752 | FB:FBgn0264975 | ||
| 12661 | FB:FBgn0264975 | ||
| 16728 | Xenbase:XB-GENE-5914700 | MOUSE64996 | |
| 23114 | FB:FBgn0264975 | ||
| 30634 | DANRE24007 | ||
| 31792 | Xenbase:XB-GENE-5914700 | ||
| 50687 | Xenbase:XB-GENE-5914700 | RATNO44750 | |
| 116690 | FB:FBgn0264975 |
