InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: L1CAM

Summary

InnateDB Gene

IDBG-90096.6

Last Modified

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

Gene Symbol

L1CAM

Gene 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 Gene

ENSG00000198910

Encoded Proteins

IDBP-90098

L1 cell adhesion molecule

IDBP-90100

L1 cell adhesion molecule

IDBP-90102

L1 cell adhesion molecule

IDBP-90106

L1 cell adhesion molecule

IDBP-90108

L1 cell adhesion molecule

IDBP-294327

L1 cell adhesion molecule

IDBP-383127

L1 cell adhesion molecule

IDBP-383130

L1 cell adhesion molecule

IDBP-383132

L1 cell adhesion molecule

IDBP-383134

L1 cell adhesion molecule

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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:153861514-153909223

Strand

Reverse strand

Band

q28

Transcripts

ENST00000370060	ENSP00000359077
ENST00000370058	ENSP00000359075
ENST00000361699	ENSP00000355380
ENST00000361981	ENSP00000354712
ENST00000370055	ENSP00000359072
ENST00000407935	ENSP00000384902
ENST00000455590	ENSP00000397792
ENST00000439496	ENSP00000402407
ENST00000420165	ENSP00000392524
ENST00000458029	ENSP00000396079
ENST00000491983
ENST00000474853
ENST00000496122
ENST00000484652
ENST00000464967
ENST00000460553
ENST00000616195

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