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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 |
|---|---|---|
| cell adhesion |
|
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| axon guidance receptor activity | ||
| protein binding | ||
| protein domain specific binding |
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:0050156 | idiopathic pulmonary fibrosis | |
| DOID:0050328 | congenital hypothyroidism | |
| DOID:0050387 | nonpapillary renal cell carcinoma | |
| DOID:0050425 | restless legs syndrome | |
| DOID:0050445 | X-linked dominant hypophosphatemic rickets | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050771 | pheochromocytoma | |
| DOID:0050819 | obsolete Matthew-Wood syndrome | |
| DOID:0050865 | tongue squamous cell carcinoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
| HP:0001258 | Spastic paraplegia |
| HP:0001263 | Global developmental delay |
| HP:0001268 | Mental deterioration |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001288 | Gait disturbance |
| Disease ID | Disease Name |
|---|---|
| ORPHA:306617 |
|
| ORPHA:2182 |
|
| OMIM:304100 |
|
| ORPHA:1497 |
|
| OMIM:303350 |
|
| OMIM:307000 |
|
| ORPHA:2466 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101590171 | OCTDE23673 | ||
| 100028028 | MONDO35982 | ||
| 114030882 | VOMUR30213 | ||
| 105867318 | MICMU07290 | ||
| 100949201 | OTOGA01197 | ||
| 101065574 | TAKRU38243 | ||
| 102020500 | CHILA24756 | ||
| 105707107 | AOTNA39726 | ||
| 101034097 | SAIBB38855 | ||
| 101969264 | ICTTR08590 |
