U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 16728, updated on 26-Jun-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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 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 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 
    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 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 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 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 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 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 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
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)

    NEW Try the new Transcript table

    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