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L1cam
Gene Detail
Symbol

Name
ID
L1cam
L1 cell adhesion molecule
MGI:96721
Synonyms
CD171, L1, L1-NCAM, NCAM-L1
Feature Type
protein coding gene
Genetic Map
Chromosome X
37.43 cM, cytoband A6-B
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
ChrX:73853778-73896105 bp, - strand
From VEGA annotation of GRCm38

  42328 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20128  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: L1CAM
Protein SuperFamily: neural cell adhesion molecule-like protein
Gene Tree: L1cam

Human
homologs
L1CAM, L1 cell adhesion molecule
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 3897
neXtProt AC: NX_P32004

Human Synonyms: CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAML1, N-CAM-L1, NCAM-L1, S10, SPG1

Human Chr (Location): Xq28; chrX:153861514-153886174 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human L1CAM

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(1) Targeted(11)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using L1cam (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
L1cam interacts with 279 markers (Mir1b, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process axon guidance, cell adhesion, ...
Component axon, cell surface, ...
Function identical protein binding, integrin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (204 records)
Data Summary: Results (577)    Tissues (225)    Images (141)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 123
RNA in situ 443
Western blot 11
cDNA source data(134)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase l1cam ; ZFIN nadl1.1, nadl1.2    NEW 
Molecular
reagents
All nucleic(148) Genomic(9) cDNA(135) Primer pair(1) Other(3)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000016517 (Evidence)
Ensembl Gene Model ENSMUSG00000031391 (Evidence)
Entrez Gene 16728 (Evidence)
UniGene 260568
DFCI TC1577304, TC1612585
DoTS DT.101310738, DT.101403325, DT.87049564
NIA Mouse Gene Index U039460
Consensus CDS Project CCDS30215.1
International Mouse Phenotyping Consortium Status L1cam
Sequences
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 sequences
All sequences(78) RefSeq(8) UniProt(8)
Polymorphisms
RFLP(4) : SNPs within 2kb(202 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003961 Fibronectin, type III
InterPro IPR026966 Fibronectin type III C-terminal domain
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
Protein Ontology PR:000002066 neural cell adhesion molecule L1
References
(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:220152 Marcos S, et al., Secreted frizzled related proteins modulate pathfinding and fasciculation of mouse retina ganglion cell axons by direct and indirect mechanisms. J Neurosci. 2015 Mar 18;35(11):4729-40
All references(321)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-11706

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory