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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0110805 | hereditary spastic paraplegia 53 | |
| DOID:0110806 | hereditary spastic paraplegia 54 | |
| DOID:0110807 | hereditary spastic paraplegia 55 | |
| DOID:0110808 | hereditary spastic paraplegia 56 | |
| DOID:0110809 | hereditary spastic paraplegia 57 | |
| DOID:0110810 | hereditary spastic paraplegia 5A | |
| DOID:0110811 | hereditary spastic paraplegia 6 | |
| DOID:0110812 | hereditary spastic paraplegia 61 | |
| DOID:0110813 | hereditary spastic paraplegia 62 | |
| DOID:0110814 | hereditary spastic paraplegia 63 |
- 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 |
|---|---|---|---|
| 100525324 | PIGXX38257 | ||
| 516017 | BOVIN36513 | ||
| 102181196 | CAPHI31857 | ||
| 101110032 | SHEEP19986 | ||
| 100328746 | RABIT16634 | ||
| 106000173 | DIPOR22359 | ||
| 100769119 | CRIGR15537 | ||
| 16728 | MGI:96721 | MOUSE64996 | |
| 50687 | RGD:619777 | RATNO44750 | |
| 100726067 | CAVPO23721 |
