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    L1CAM L1 cell adhesion molecule [ Homo sapiens (human) ]

    Gene ID: 3897, updated on 14-Apr-2016
    Official Symbol
    L1CAMprovided by HGNC
    Official Full Name
    L1 cell adhesion moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:6470
    See related
    Ensembl:ENSG00000198910 HPRD:02394; MIM:308840; Vega:OTTHUMG00000024221
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1
    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 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]
    Orthologs
    Location:
    Xq28
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (153861514..153886174, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153126969..153151628, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373385 Neighboring gene cytochrome c, somatic pseudogene 45 Neighboring gene lung carcinoma-associated 10 Neighboring gene arginine vasopressin receptor 2 Neighboring gene Rho GTPase activating protein 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Corpus callosum, partial agenesis of, X-linked
    MedGen: C1839909 OMIM: 304100 GeneReviews: Not available
    Compare labs
    Spastic paraplegia 1
    MedGen: C0795953 OMIM: 303350 GeneReviews: L1 Syndrome
    Compare labs
    X-linked hydrocephalus syndrome
    MedGen: C0265216 OMIM: 307000 GeneReviews: L1 Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Basigin interactions, organism-specific biosystem (from REACTOME)
      Basigin interactions, organism-specific biosystemBasigin is a widely expressed transmembrane glycoprotein that belongs to the Ig superfamily and is highly enriched on the surface of epithelial cells. Basigin is involved in intercellular interaction...
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
      Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Recycling pathway of L1, organism-specific biosystem (from REACTOME)
      Recycling pathway of L1, organism-specific biosystemL1 functions in many aspects of neuronal development including axon outgrowth and neuronal migration. These functions require coordination between L1 and the actin cytoskeleton. F-actin continuously ...
    • Signal transduction by L1, organism-specific biosystem (from REACTOME)
      Signal transduction by L1, organism-specific biosystemBesides adhesive roles in cell cell interaction, L1 functions as a signal transducing receptor providing neurons with cues from their environment for axonal growth and guidance. L1 associates with be...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    chemotaxis TAS
    Traceable Author Statement
    more info
    PubMed 
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axonal growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    neural cell adhesion molecule L1
    Names
    antigen identified by monoclonal antibody R1

    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.

    Genomic

    1. NG_009645.3 RefSeqGene

      Range
      38179..52710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000425.4NP_000416.1  neural cell adhesion molecule L1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as FL-L1CAM) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 4. Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AI361399, BC025843, BC126229, HY119527
      Consensus CDS
      CCDS14733.1
      UniProtKB/Swiss-Prot
      P32004
      Conserved Domains (12) summary
      cd00096
      Location:535605
      Ig; Immunoglobulin domain
      cd05731
      Location:260330
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05733
      Location:53130
      Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
      cd05867
      Location:347422
      Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      smart00408
      Location:256319
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:339421
      IG; Immunoglobulin
      smart00410
      Location:42125
      IG_like; Immunoglobulin like
      cd00063
      Location:612709
      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 ...
      pfam00041
      Location:10211109
      fn3; Fibronectin type III domain
      pfam07679
      Location:519608
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:11441235
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:134228
      Ig; Immunoglobulin domain
    2. NM_001143963.2NP_001137435.1  neural cell adhesion molecule L1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001137435.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as SV-L1CAM) lacks two alternate in-frame exons, one in the 5' coding region and the other (neuron-specific exon) in the 3' coding region, compared to variant 4. The resulting isoform (3) is shorter, and lacks an internal segment in the N-terminus and is missing a tyrosine-based sorting motif in the C-terminus, compared to isoform 1.
      Source sequence(s)
      AI361399, BC025843, BC126229, EF506611
      Consensus CDS
      CCDS48192.1
      UniProtKB/Swiss-Prot
      P32004
      Related
      ENSP00000354712, ENST00000361981
      Conserved Domains (11) summary
      cd00096
      Location:530600
      Ig; Immunoglobulin domain
      cd05731
      Location:255325
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05733
      Location:48125
      Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
      cd05867
      Location:342417
      Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      smart00408
      Location:251314
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:334416
      IG; Immunoglobulin
      smart00410
      Location:37120
      IG_like; Immunoglobulin like
      cd00063
      Location:607704
      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 ...
      pfam00041
      Location:10161104
      fn3; Fibronectin type III domain
      pfam13882
      Location:11391226
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:129223
      Ig; Immunoglobulin domain
    3. NM_001278116.1NP_001265045.1  neural cell adhesion molecule L1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001265045.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and its 5' UTR structure is inferred based on experimental data in PMID 20799950. Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AI361399, BC025843, BC126229, DA122729
      Consensus CDS
      CCDS14733.1
      UniProtKB/Swiss-Prot
      P32004
      Related
      ENSP00000359077, OTTHUMP00000025992, ENST00000370060, OTTHUMT00000061094
      Conserved Domains (12) summary
      cd00096
      Location:535605
      Ig; Immunoglobulin domain
      cd05731
      Location:260330
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05733
      Location:53130
      Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
      cd05867
      Location:347422
      Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      smart00408
      Location:256319
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:339421
      IG; Immunoglobulin
      smart00410
      Location:42125
      IG_like; Immunoglobulin like
      cd00063
      Location:612709
      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 ...
      pfam00041
      Location:10211109
      fn3; Fibronectin type III domain
      pfam07679
      Location:519608
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:11441235
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:134228
      Ig; Immunoglobulin domain
    4. NM_024003.3NP_076493.1  neural cell adhesion molecule L1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_076493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame neuron-specific exon in the 3' coding region, compared to variant 4. The resulting isoform (2) is shorter and lacks an internal segment containing a tyrosine-based sorting motif, compared to isoform 1.
      Source sequence(s)
      AI361399, BC025843, BC126229, M74387
      Consensus CDS
      CCDS14734.1
      UniProtKB/Swiss-Prot
      P32004
      Related
      ENSP00000355380, OTTHUMP00000025993, ENST00000361699, OTTHUMT00000061095
      Conserved Domains (12) summary
      cd00096
      Location:535605
      Ig; Immunoglobulin domain
      cd05731
      Location:260330
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05733
      Location:53130
      Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
      cd05867
      Location:347422
      Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      smart00408
      Location:256319
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:339421
      IG; Immunoglobulin
      smart00410
      Location:42125
      IG_like; Immunoglobulin like
      cd00063
      Location:612709
      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 ...
      pfam00041
      Location:10211109
      fn3; Fibronectin type III domain
      pfam07679
      Location:519608
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:11441231
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:134228
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      153861514..153886174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      153001369..153026043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)