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

Gene ID: 16728, updated on 26-Mar-2024

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 several functions, including identical protein binding activity; integrin binding activity; and sialic acid binding activity. 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; presynaptic membrane; and terminal bouton. 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, Apr 2022]
Expression
Biased expression in CNS E18 (RPKM 43.2), whole brain E14.5 (RPKM 35.1) and 12 other tissues See more
Orthologs
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Genomic context

See L1cam in Genome Data Viewer
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_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11049 Neighboring gene STARR-seq mESC enhancer starr_47355 Neighboring gene signal sequence receptor, delta Neighboring gene PDZ domain containing 4 Neighboring gene STARR-seq mESC enhancer starr_47357 Neighboring gene predicted gene, 23615 Neighboring gene STARR-seq mESC enhancer starr_47358 Neighboring gene STARR-seq mESC enhancer starr_47359 Neighboring gene Rho GTPase activating protein 4 Neighboring gene arginine vasopressin receptor 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:71157031-71157252 Neighboring gene STARR-seq mESC enhancer starr_47360 Neighboring gene N(alpha)-acetyltransferase 10, NatA catalytic subunit

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 ISO
Inferred from Sequence Orthology
more info
 
enables protein self-association IPI
Inferred from Physical Interaction
more info
PubMed 
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 
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 
acts_upstream_of_or_within cell adhesion IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration ISO
Inferred from Sequence Orthology
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 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 modulation of chemical synaptic transmission ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within nervous system development IEA
Inferred from Electronic Annotation
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
 
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 regulation of ERK1 and ERK2 cascade ISO
Inferred from Sequence Orthology
more info
 
involved_in synapse organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in synapse organization ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
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 ISO
Inferred from Sequence Orthology
more info
 
located_in axonal growth cone ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
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

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)

  1. NM_001374694.1NP_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:254324
    Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00409
    Location:428508
    IG; Immunoglobulin
    cd00063
    Location:606703
    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:48125
    Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    pfam00041
    Location:915997
    fn3; Fibronectin type III domain
    pfam13882
    Location:11411222
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:128222
    Ig; Immunoglobulin domain
  2. NM_008478.3NP_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:259329
    Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00410
    Location:433513
    IG_like; Immunoglobulin like
    cd00063
    Location:611708
    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:53130
    Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    pfam00041
    Location:9201002
    fn3; Fibronectin type III domain
    pfam13882
    Location:11461231
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:133227
    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

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    72897384..72924843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    P11627
    Conserved Domains (7) summary
    cd05876
    Location:254324
    Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00409
    Location:428508
    IG; Immunoglobulin
    cd00063
    Location:606703
    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:48125
    Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    pfam00041
    Location:915997
    fn3; Fibronectin type III domain
    pfam13882
    Location:11411226
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:128222
    Ig; Immunoglobulin domain
  2. XM_006527859.4XP_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:259329
    Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00409
    Location:433513
    IG; Immunoglobulin
    cd00063
    Location:611708
    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:53130
    Ig_L1-CAM_like; Immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    pfam00041
    Location:9201002
    fn3; Fibronectin type III domain
    pfam13882
    Location:11461227
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:133227
    Ig; Immunoglobulin domain