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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:0110770 | hereditary spastic paraplegia 17 | |
| DOID:0110771 | hereditary spastic paraplegia 18 | |
| DOID:0110772 | hereditary spastic paraplegia 19 | |
| DOID:0110773 | hereditary spastic paraplegia 2 | |
| DOID:0110774 | hereditary spastic paraplegia 23 | |
| DOID:0110775 | hereditary spastic paraplegia 24 | |
| DOID:0110776 | hereditary spastic paraplegia 25 | |
| DOID:0110777 | hereditary spastic paraplegia 26 | |
| DOID:0110778 | hereditary spastic paraplegia 27 | |
| DOID:0110779 | hereditary spastic paraplegia 28 |
- 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 |
|---|---|---|---|
| 100970233 | PANPA42344 | ||
| 450117 | PANTR47095 | ||
| 100437141 | PONAB36830 | ||
| 492244 | CANLF20290 | ||
| 123797329 | URSAM29364 | ||
| 100482790 | AILME02909 | ||
| 101681066 | MUSPF01160 | ||
| 101088733 | FELCA38721 | ||
| 118889082 | BALMU19904 | ||
| 100059024 | HORSE44159 |
