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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 |
|---|---|---|
| homophilic cell adhesion via plasma membrane adhesion molecules | ||
| axon guidance | ||
| positive regulation of axon extension | ||
| neuron projection development | ||
| cell-matrix 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: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 |
|---|---|
| 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 |
|---|---|---|---|
| 100525324 | PIGXX38257 | ||
| 516017 | BOVIN36513 | ||
| 102181196 | CAPHI31857 | ||
| 101110032 | SHEEP19986 | ||
| 100328746 | RABIT16634 | ||
| 106000173 | DIPOR22359 | ||
| 100769119 | CRIGR15537 | ||
| 16728 | MGI:96721 | MOUSE64996 | |
| 50687 | RGD:619777 | RATNO44750 | |
| 100726067 | CAVPO23721 |
