InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: L1cam

Summary

InnateDB Gene

IDBG-154012.6

Last Modified

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

Gene Symbol

L1cam

Gene Name

L1 cell adhesion molecule

Synonyms

CD171; L1; N-CAM-L1; NCAM-L1

Species

Mus musculus

Ensembl Gene

ENSMUSG00000031391

Encoded Proteins

IDBP-154014

L1 cell adhesion molecule

IDBP-154018

L1 cell adhesion molecule

IDBP-251772

L1 cell adhesion molecule

IDBP-535235

L1 cell adhesion molecule

IDBP-542001

L1 cell adhesion molecule

IDBP-540825

L1 cell adhesion molecule

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000198910:
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. [provided by RefSeq, Jul 2008]
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:73853778-73896105

Strand

Reverse strand

Band

A7.3

Transcripts

ENSMUST00000102871	ENSMUSP00000099935
ENSMUST00000066576	ENSMUSP00000068135
ENSMUST00000114430	ENSMUSP00000110073
ENSMUST00000124560	ENSMUSP00000115923
ENSMUST00000144478
ENSMUST00000145805
ENSMUST00000135104
ENSMUST00000130110
ENSMUST00000155246
ENSMUST00000148250	ENSMUSP00000114609
ENSMUST00000129612
ENSMUST00000141221
ENSMUST00000146790	ENSMUSP00000121797

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [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:0007156	homophilic cell adhesion
GO:0007157	heterophilic cell-cell adhesion
GO:0007159	leukocyte cell-cell adhesion
GO:0007166	cell surface receptor signaling pathway
GO:0007411	axon guidance
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