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Symbol CHL1 contributors: mct/npt - updated : 09-10-2019
HGNC name cell adhesion molecule with homology to L1CAM (close homolog of L1)
HGNC id 1939
Corresponding disease
DEL3PD chromosome 3p25 deletion syndrome
Location 3p26.3      Physical location : 238.649 - 451.095
Synonym name
  • neural cell adhesion molecule L1-like protein
  • close homolog of L1
  • Synonym symbol(s) CALL, L1CAM2, FLJ44930, MGC132578
    TYPE functioning gene
    STRUCTURE 212.83 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Locus Control Region
    MAPPING cloned Y linked N status provisional
    Map pter - D3S1578 - CHL1 - D3S1762 - D3S1539 - CNTN6 - D3S3525 - CNTN4 - LRRN1 - D3S1560 - ITPR1 - BHLHB2 - EDEM1 - BRPF1 - OGG1 - ARPC4 - VHL VHL - ATP2B2 - cen
    Authors Angeloni (99), Frints (03)
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 7650 - 1224 - 1998 9799093
    27 - 7983 - 1208 - 1998 9799093
    24 - 7324 - 1171 - 1998 9799093
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    at STAGE
    physiological period fetal
    Text abundantly expressed in the developing and adult cerebellum
  • a signal peptide followed by 6 immunoglobulin (Ig) domains
  • four fibronectin type III (FNIII) domains
  • a single-pass transmembrane peptide
  • a 105-amino acid cytoplasmic domain
  • 21 potential N-glycosylation sites, more than 50 O-glycosylation sites
  • 22 N-myristoylation sites
  • a membrane-proximal motif (RGGKYSV) in the cytoplasmic domain, having novel functions necessary for SEMA3A-induced growth cone collapse and CHL1-dependent neurite outgrowth and branching in cortical embryonic neurons (Schlatter 2008)
  • two amidation sites and multiple phosphorylation sites
    interspecies ortholog to murine Chl1
    homolog to Drosophila Nrg
    homolog to C.elegans Y54G2A.25
  • immunoglobulin superfamily
  • neuronal cell recognition molecule family
  • L1 subfamily of neural cell adhesion molecules
  • CATEGORY adhesion
        plasma membrane
  • accumulates in presynaptic membranes and, in response to synapse activation, is targeted to synaptic vesicles by endocytosis (Leshchyns'ka 2006)
  • in neurons, L1CAM and CHL1 are mainly located in axonal membranes
  • basic FUNCTION
  • neuronal adhesion protein L1-CAM serving as a receptor for nerve growth-promoting proteins
  • adhesion molecule that regulates uncoating of clathrin-coated synaptic vesicles
  • maybe involved in cognitive and behavioral functions
  • having a function in thalamic axon responsiveness to ventral telencephalic cues, and playing a role with NRP1 in establishment of proper targeting of specific thalamocortical projections (Wright 2007)
  • able to recruit ezrin, a member of the ezrin-radixin-moesin (ERM) family of filamentous actin binding proteins to the plasma membrane (Schlatter 2008)
  • promotes Purkinje and granule cell survival and granule cell migration during cerebellar development (Jakovcevski 2009)
  • important for apical dendritic projection and laminar positioning of pyramidal neurons in caudal regions of the cerebral cortex (Demyanenko 2010)
  • cooperate with PAK1, PAK2, PAK3 kinase, most likely in independent pathways, in regulating morphological development of the leading process/apical dendrite of embryonic cortical neurons (Demyanenko 2010)
  • L1CAM and CHL1, are crucial for axonal guidance and maintenance of neural circuits
  • L1CAM and its close homolog CHL1 are neural cell adhesion molecules of the immunoglobulin superfamily
  • in the adult brain, L1CAM and CHL1 continue to play important roles in maintenance and regeneration of neural circuits
  • plays a dual role by either promoting or inhibiting neuritogenesis
  • ligand-induced and lipid raft-dependent regulation of CHL1 adhesion via Ca(2+)-dependent remodeling of the CHL1-beta2 spectrin complex and CHL1 endocytosis are required for CHL1-dependent neurite outgrowth
  • is involved in the regulation of recovery after spinal cord injury
  • is a novel intrinsic factor that is involved in carotid body (CB) function and in the ventilatory response to acute hypoxia (AH)
  • regulates neuronal migration and neurite overgrowth in the developing brain, while in mature neurons it accumulates in the axonal membrane and regulates synapse function via the clathrin-dependent pathways
  • CHL1 is a new modulator of the serotonergic system
  • DISC1 and CHL1 may engage in physical and functional interaction in neural development
  • plays important roles during nervous system development
  • roles for CHL1 in both axonal extension and repulsion, selectively of dopaminergic (DA) neurons, suggestive of a role in guidance towards forebrain targets and away from hindbrain nuclei
  • function as an important tumor suppressor with both anti-proliferation and anti-metastasis abilities, through NF2 and SEMA3B-Np1-mediated inhibition of AKT1 signaling pathway
    signaling signal transduction
    a component
    small molecule
  • regulated by MAP kinase pathway
  • L1-CAM-mediated nerve growth by modulating ankyrin binding
  • direct or indirect interaction between CHL1 and ERM proteins mediates SEMA3A-induced growth cone collapse as well as neurite outgrowth and branching, which are essential determinants of axon guidance and connectivity in cortical development (Schlatter 2008)
  • L1CAM and CHL1 are physiological substrates for BACE1
  • BACE1 is responsible for CHL1 processing in the brain and synaptic membranes under physiological conditions
  • extracellular matrix-associated proteins vitronectin and plasminogen activator inhibitor-2 (SERPINB2) were identified as novel CHL1 interaction partners, promoting CHL1-induced neurite outgrowth and neuronal migration
  • PTCH1 is a novel CHL1-binding protein and CHL1 interacts with the first extracellular loop of PTCH1 via its extracellular domain
  • cell & other
    corresponding disease(s) DEL3PD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    putatively involved in in 3p- syndrome
    tumoral     --over  
    in lung adenocarcinomas and squamous cell carcinomas compared to neuroendocrine and large cell carcinomas of the lung
    tumoral     --low  
    by hypermethylation and that this epigenetic alteration is an independent prognostic factor in breast cancer
  • to schizophrenia
  • to infantile spasms (ISS)
  • Variant & Polymorphism SNP , other
  • Leu17Phe
  • CNV associated with infantile spasms (ISS)
  • Candidate gene
    Therapy target
  • adult Chl1(-/-) mice display behavioral traits similar to those observed in neuropsychiatric disorders of humans