InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: L1CAM

Summary

InnateDB Protein

IDBP-90098.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

L1CAM

Protein Name

L1 cell adhesion molecule

Synonyms

CAML1; CD171; HSAS; HSAS1; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; S10; SPG1;

Species

Homo sapiens

Ensembl Protein

ENSP00000359077

InnateDB Gene

IDBG-90096 (L1CAM)

Protein Structure

UniProt Annotation

Function

Cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein.

Disease Associations

Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]: Hydrocephalus is a condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by mental retardation and enlarged brain ventricles. {ECO:0000269PubMed:10797421, ECO:0000269PubMed:12435569, ECO:0000269PubMed:7562969, ECO:0000269PubMed:7762552, ECO:0000269PubMed:7881431, ECO:0000269PubMed:7920659, ECO:0000269PubMed:8401576, ECO:0000269PubMed:8556302, ECO:0000269PubMed:8929944, ECO:0000269PubMed:9118141, ECO:0000269PubMed:9195224, ECO:0000269PubMed:9268105, ECO:0000269PubMed:9521424, ECO:0000269PubMed:9744477}. Note=The disease is caused by mutations affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793). {ECO:0000269PubMed:22344793}.Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]: An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. {ECO:0000269PubMed:10805190, ECO:0000269PubMed:11857550, ECO:0000269PubMed:16816908, ECO:0000269PubMed:7920659, ECO:0000269PubMed:7920660, ECO:0000269PubMed:9268105, ECO:0000269PubMed:9300653, ECO:0000269PubMed:9452110, ECO:0000269PubMed:9832035}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic paraplegia 1, X-linked (SPG1) [MIM:303350]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease- associated genes to cause intestinal aganglionosis. {ECO:0000269PubMed:11857550}.Agenesis of the corpus callosum, X-linked, partial (ACCPX) [MIM:304100]: A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. {ECO:0000269PubMed:16650080}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005515	protein binding
GO:0033691	sialic acid binding
GO:0042802	identical protein binding
GO:0043621	protein self-association

Biological Process

GO:0006935	chemotaxis
GO:0007155	cell adhesion
GO:0007156	homophilic cell adhesion
GO:0007157	heterophilic cell-cell adhesion
GO:0007159	leukocyte cell-cell adhesion
GO:0007166	cell surface receptor signaling pathway
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0007596	blood coagulation
GO:0008219	cell death
GO:0022409	positive regulation of cell-cell adhesion
GO:0031175	neuron projection development
GO:0033631	cell-cell adhesion mediated by integrin
GO:0034109	homotypic cell-cell adhesion
GO:0050850	positive regulation of calcium-mediated signaling
GO:0050900	leukocyte migration

Cellular Component

GO:0005886	plasma membrane
GO:0009897	external side of plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0042734	presynaptic membrane
GO:0043195	terminal bouton

Protein Structure and Domains

PDB ID

InterPro

IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR003961 Fibronectin, type III
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013151 Immunoglobulin

PFAM

PF00041
PF01108
PF07679
PF00047

PRINTS

PIRSF

SMART

SM00408
SM00409
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P32004