L1cam L1 cell adhesion molecule [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: L1camprovided by MGI
Official Full Name: L1 cell adhesion moleculeprovided by MGI
Primary source: MGI:MGI:96721
See related: Ensembl:ENSMUSG00000031391 AllianceGenome:MGI:96721
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: L1; CD171; NCAM-L1; N-CAM-L1
Summary: Enables identical protein binding activity; integrin binding activity; and sialic acid binding activity. Involved in maintenance of synapse structure and regulation of synapse assembly. Acts upstream of or within several processes, including cell-cell adhesion mediated by integrin; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in external side of plasma membrane and terminal bouton. Is active in several cellular components, including GABA-ergic synapse; Schaffer collateral - CA1 synapse; and presynaptic membrane. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Used to study MASA syndrome. Human ortholog(s) of this gene implicated in MASA syndrome; hydrocephalus; ovarian carcinoma; pancreatic cancer; and schizophrenia. Orthologous to human L1CAM (L1 cell adhesion molecule). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E18 (RPKM 43.2), whole brain E14.5 (RPKM 35.1) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 37.43 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (72897384..72924843, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (73853778..73880838, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities.
Title: Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities.
Neuropsin promotes hippocampal synaptogenesis by regulating the expression and cleavage of L1CAM.
Title: Neuropsin promotes hippocampal synaptogenesis by regulating the expression and cleavage of L1CAM.
Mice Mutated in the Third Fibronectin Domain of L1 Show Enhanced Hippocampal Neuronal Cell Death, Astrogliosis and Alterations in Behavior.
Title: Mice Mutated in the Third Fibronectin Domain of L1 Show Enhanced Hippocampal Neuronal Cell Death, Astrogliosis and Alterations in Behavior.
L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.
Title: L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.
The KDET Motif in the Intracellular Domain of the Cell Adhesion Molecule L1 Interacts with Several Nuclear, Cytoplasmic, and Mitochondrial Proteins Essential for Neuronal Functions.
Title: The KDET Motif in the Intracellular Domain of the Cell Adhesion Molecule L1 Interacts with Several Nuclear, Cytoplasmic, and Mitochondrial Proteins Essential for Neuronal Functions.
A fragment of cell adhesion molecule L1 reduces amyloid-beta plaques in a mouse model of Alzheimer's disease.
Title: A fragment of cell adhesion molecule L1 reduces amyloid-β plaques in a mouse model of Alzheimer's disease.
Cell adhesion molecule L1 interacts with the chromo shadow domain of heterochromatin protein 1 isoforms alpha, beta, and via its intracellular domain.
Title: Cell adhesion molecule L1 interacts with the chromo shadow domain of heterochromatin protein 1 isoforms α, β, and ɣ via its intracellular domain.
Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.
Title: Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.
The L1 cell adhesion molecule affects protein kinase D1 activity in the cerebral cortex in a mouse model of Alzheimer's disease.
Title: The L1 cell adhesion molecule affects protein kinase D1 activity in the cerebral cortex in a mouse model of Alzheimer's disease.
An antibody against L1 cell adhesion molecule inhibits cardiotoxicity by regulating persistent DNA damage.
Title: An antibody against L1 cell adhesion molecule inhibits cardiotoxicity by regulating persistent DNA damage.

Submit: New GeneRIF Correction See all GeneRIFs (94)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Gene trapped (1)
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ncam (e-PCR), detects polymorphism
- UniSTS:158748

REN87933 (e-PCR)
- UniSTS:412731

L1cam (e-PCR), detects polymorphism
- UniSTS:507013

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables axon guidance receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables sialic acid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in axon development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axon guidance	IDA Inferred from Direct Assay more info	PubMed
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within axon guidance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon guidance	ISO Inferred from Sequence Orthology more info
involved_in axonal fasciculation	ISO Inferred from Sequence Orthology more info
acts_upstream_of calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in cell migration	ISO Inferred from Sequence Orthology more info
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell-cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebellar neuron development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within homophilic cell adhesion via plasma membrane adhesion molecules	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homotypic cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within leukocyte cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of synapse structure	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of synapse structure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modulation of chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron projection development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell-substrate adhesion	ISO Inferred from Sequence Orthology more info
involved_in protein localization to plasma membrane raft	ISO Inferred from Sequence Orthology more info
involved_in regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of synapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to toluene	ISO Inferred from Sequence Orthology more info
involved_in synapse organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in synapse organization	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	ISO Inferred from Sequence Orthology more info
involved_in synapse organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in axonal growth cone	ISO Inferred from Sequence Orthology more info
located_in axonal growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendritic growth cone	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in terminal bouton	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neural cell adhesion molecule L1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001374694.1 → NP_001361623.1 neural cell adhesion molecule L1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL672094

UniProtKB/Swiss-Prot

P11627

UniProtKB/TrEMBL

A2AFG7

Related

ENSMUSP00000068135.6, ENSMUST00000066576.12

Conserved Domains (7) summary

cd05876
Location:254 → 324

Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

smart00409
Location:428 → 508

IG; Immunoglobulin

cd00063
Location:606 → 703

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05733
Location:48 → 125

Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

pfam00041
Location:915 → 997

fn3; Fibronectin type III domain

pfam13882
Location:1141 → 1222

Bravo_FIGEY; Bravo-like intracellular region

cl11960
Location:128 → 222

Ig; Immunoglobulin domain
NM_008478.3 → NP_032504.3 neural cell adhesion molecule L1 isoform 1 precursor

See identical proteins and their annotated locations for NP_032504.3

Status: VALIDATED

Source sequence(s)

BC056988, CJ109973, CJ258952

Consensus CDS

CCDS30215.1

UniProtKB/Swiss-Prot

P11627

UniProtKB/TrEMBL

Q6PGJ3

Related

ENSMUSP00000099935.4, ENSMUST00000102871.10

Conserved Domains (7) summary

cd05876
Location:259 → 329

Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

smart00410
Location:433 → 513

IG_like; Immunoglobulin like

cd00063
Location:611 → 708

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05733
Location:53 → 130

Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

pfam00041
Location:920 → 1002

fn3; Fibronectin type III domain

pfam13882
Location:1146 → 1231

Bravo_FIGEY; Bravo-like intracellular region

cl11960
Location:133 → 227

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

72897384..72924843 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527860.4 → XP_006527923.1 neural cell adhesion molecule L1 isoform X2

UniProtKB/Swiss-Prot

P11627

Conserved Domains (7) summary

cd05876
Location:254 → 324

Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

smart00409
Location:428 → 508

IG; Immunoglobulin

cd00063
Location:606 → 703

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05733
Location:48 → 125

Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

pfam00041
Location:915 → 997

fn3; Fibronectin type III domain

pfam13882
Location:1141 → 1226

Bravo_FIGEY; Bravo-like intracellular region

cl11960
Location:128 → 222

Ig; Immunoglobulin domain
XM_006527859.4 → XP_006527922.1 neural cell adhesion molecule L1 isoform X1

UniProtKB/Swiss-Prot

P11627

UniProtKB/TrEMBL

A2AFG8

Related

ENSMUSP00000110073.2, ENSMUST00000114430.8

Conserved Domains (7) summary

cd05876
Location:259 → 329

Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

smart00409
Location:433 → 513

IG; Immunoglobulin

cd00063
Location:611 → 708

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05733
Location:53 → 130

Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

pfam00041
Location:920 → 1002

fn3; Fibronectin type III domain

pfam13882
Location:1146 → 1227

Bravo_FIGEY; Bravo-like intracellular region

cl11960
Location:133 → 227

Ig; Immunoglobulin domain