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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 |
|---|---|---|
| axon development | ||
| cell migration | ||
| nervous system development |
|
|
| synapse organization | ||
| chemotaxis |
|
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:0001763 | Pes planus |
| HP:0002061 | Lower limb spasticity |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002251 | Aganglionic megacolon |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002362 | Shuffling gait |
| HP:0002381 | Aphasia |
| HP:0002410 | Aqueductal stenosis |
| HP:0002493 | Upper motor neuron dysfunction |
| 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 |
|---|---|---|---|
| 177078 | WB:WBGene00002243 | ||
| 31792 | FB:FBgn0264975 | ||
| 30634 | ZFIN:ZDB-GENE-990415-10 | DANRE24007 | |
| 30656 | ZFIN:ZDB-GENE-980526-512 | ||
| 108276290 | ICTPU08109 | ||
| 106567028 | SALSA31403 | ||
| 106572712 | SALSA43790 | ||
| 115168850 | SALTR75714 | ||
| 101166379 | ORYLA15726 | ||
| 115584934 | SPAAU52848 |
