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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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:73853780-73880838 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.43 cM, cytoband A6-B
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    134 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96721
protein coding gene ChrX:73853778-73896105 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035823
protein coding gene ChrX:69631359-69673876 (-)
A/J MGP_AJ_G0035804
protein coding gene ChrX:69828839-69872455 (-)
AKR/J MGP_AKRJ_G0035729
protein coding gene ChrX:71659126-71714932 (-)
BALB/cJ MGP_BALBcJ_G0035789
protein coding gene ChrX:68857856-68900128 (-)
C3H/HeJ MGP_C3HHeJ_G0035494
protein coding gene ChrX:70108639-70152050 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036319
protein coding gene ChrX:71778210-71820542 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033163
protein coding gene ChrX:68859951-68904009 (-)
CAST/EiJ MGP_CASTEiJ_G0034785
protein coding gene ChrX:55456221-55503617 (-)
CBA/J MGP_CBAJ_G0035469
protein coding gene ChrX:73758947-73815002 (-)
DBA/2J MGP_DBA2J_G0035626
protein coding gene ChrX:69286041-69328604 (-)
FVB/NJ MGP_FVBNJ_G0035570
protein coding gene ChrX:68618366-68662630 (-)
LP/J MGP_LPJ_G0035711
protein coding gene ChrX:70414391-70458690 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035608
protein coding gene ChrX:76324556-76368236 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036341
protein coding gene ChrX:69456893-69499614 (-)
PWK/PhJ MGP_PWKPhJ_G0034484
protein coding gene ChrX:53467144-53510839 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034318
protein coding gene ChrX:56355835-56400410 (-)
WSB/EiJ MGP_WSBEiJ_G0034926
protein coding gene ChrX:68727345-68770891 (-)



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
less
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 16728 NCBI Gene Model | MGI Sequence Detail 27059 C57BL/6J ±  kb
    transcript NM_008478 RefSeq | MGI Sequence Detail 5288 C57BL/6  
    polypeptide P11627 UniProt | EBI | MGI Sequence Detail 1260 Not Applicable  
    For the selected sequence
    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 374
      Developmental Gene Expression 245
      Diseases 1
      Gene Ontology 20
      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:263628 Abudureyimu S, et al., Essential Role of Linx/Islr2 in the Development of the Forebrain Anterior Commissure. Sci Rep. 2018 May 8;8(1):7292

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory