L1 cell adhesion molecule

Summary
Gene Symbol
  • L1CAM
Aliases
  • CAML1
  • CD171
  • NCAM-L1
  • neural cell adhesion molecule L1
Organism
Homo sapiens (human)
External Links
NCBI Gene
3897
HGNC
6470
KEGG Gene ID
hsa:3897
PubChem
3897
Alliance of Genome Resources
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
Displaying 1 entry
UniProt Protein Name
P32004
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000198910

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K06550
Name
L1 cell adhesion molecule
References
Disease
Disease Ontology
Displaying entries 171 - 180 of 292 in total
DO ID Disease Name Source
DOID:1584 acute chest syndrome
DOID:1596 depressive disorder
DOID:1612 breast cancer
DOID:162 cancer
DOID:1749 squamous cell carcinoma
DOID:1781 thyroid cancer
DOID:1790 malignant mesothelioma
DOID:3459 breast carcinoma
DOID:1793 pancreatic cancer
DOID:1826 epilepsy
The Human Phenotype Ontology
Displaying entries 31 - 40 of 55 in total
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
Displaying all 7 entries
Disease ID Disease Name
ORPHA:306617
  • X-linked complicated spastic paraplegia type 1
ORPHA:2182
  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
OMIM:304100
  • X-linked complicated corpus callosum dysgenesis
ORPHA:1497
  • X-linked complicated corpus callosum dysgenesis
OMIM:303350
  • MASA syndrome
OMIM:307000
  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
ORPHA:2466
  • MASA syndrome

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Acknowledgements

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Last updated: August 19, 2024