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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 |
|---|---|---|
| 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:0060874 | isolated growth hormone deficiency type IB | |
| DOID:0060875 | isolated growth hormone deficiency type III | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0080067 | Charcot-Marie-Tooth disease type 5 | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0080522 | thyroid gland anaplastic carcinoma | |
| DOID:0080525 | differentiated thyroid gland 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 |
|---|---|---|---|
| 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 |
