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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:72897384-72924843 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.43 cM, cytoband A6-B
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    466 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96721
 protein coding gene ChrX:72897384-72939711 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    L1CAM, L1 cell adhesion molecule
  • Synonyms
    CAML1, CD171, HSAS, HSAS1, HYCX, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1
  • Links
    NCBI Gene ID: 3897
    neXtProt AC: NX_P32004
    UniProt: P32004

  • Chr Location
    Xq28; chrX:153861514-153886173 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with L1cam mouse models; 5 with human L1CAM associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
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
less
  • Phenotype Summary
    59 phenotypes from 9 alleles in 13 genetic backgrounds
    9 phenotypes from multigenic genotypes
    1 images
    68 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    85
  • GO References
    23
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1582
  • Tissues
    317
  • cDNA Data
    136
  • Literature Summary
    321
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16728 NCBI Gene Model | MGI Sequence Detail 27460 C57BL/6J ±  kb
    transcript NM_008478 RefSeq | MGI Sequence Detail 5288 ZRU/MplStud  
    polypeptide P11627 UniProt | EBI | MGI Sequence Detail 1260 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 154
      Genomic 9
      cDNA 137
      Primer pair 4
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11706
    References
    more
    • Summaries
      All 474
      Developmental Gene Expression 321
      Diseases 1
      Gene Ontology 23
      Phenotypes 68
    • 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:354227 Barao S, et al., Conserved transcriptional regulation by BRN1 and BRN2 in neocortical progenitors drives mammalian neural specification and neocortical expansion. Nat Commun. 2024 Sep 14;15(1):8043
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory