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L1cam Gene Detail
Summary
  • Symbol
    L1cam
  • Name
    L1 cell adhesion molecule
  • Synonyms
    CD171, L1, L1-NCAM, NCAM-L1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96721
    NCBI Gene: 16728
  • Gene Overview
    MyGene.info: L1CAM
  • Alliance
Location & Maps
more
  • Sequence Map
    ChrX:73853778-73896105 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      42328 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.43 cM, cytoband A6-B
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    L1CAM, L1 cell adhesion molecule
  • Vertebrate Orthologs
    11
  • Human Ortholog
    L1CAM, L1 cell adhesion molecule
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAML1, N-CAM-L1, NCAM-L1, S10, SPG1
  • Links
    NCBI Gene ID: 3897
    neXtProt AC: NX_P32004
    UniProt: P32004

  • Chr Location
    Xq28; chrX:153861514-153886174 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with L1cam mouse models; 2 with human L1CAM associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    58 phenotypes from 9 alleles in 13 genetic backgrounds
    9 phenotypes from multigenic genotypes
    1 images
    49 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mutants have reduced size, lessened sensitivity to touch and pain, weakness and incoordination of hind-legs, reduced corticospinal tract, impaired guidance of retinal and corticospinal axons, and in some cases, enlarged lateral ventricles. A hypomorphic line shows background effects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000016517 VEGA Gene Model | MGI Sequence Detail 42328 C57BL/6J ±  kb
    transcript OTTMUST00000039911 VEGA | MGI Sequence Detail 5113 Not Applicable  
    polypeptide OTTMUSP00000017798 VEGA | MGI Sequence Detail 1259 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      189 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 152
      Genomic 9
      cDNA 137
      Primer pair 2
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11706
    References
    more
    • Summaries
      All 371
      Developmental Gene Expression 244
      Diseases 1
      Gene Ontology 18
      Phenotypes 49
    • Earliest
      J:8991 Tacke R, et al., Identification of cDNA clones of the mouse neural cell adhesion molecule L1. Neurosci Lett. 1987 Nov 10;82(1):89-94
    • Latest
      J:259672 Peng J, et al., Loss of Dcc in the spinal cord is sufficient to cause a deficit in lateralized motor control and the switch to a hopping gait. Dev Dyn. 2018 Apr;247(4):620-629

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory