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(19)

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; 2 zebrafish

Protein SuperFamily: neural cell adhesion molecule-like protein
Gene Tree: L1cam

Human homologs

Human Homolog		L1CAM, L1 cell adhesion molecule
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:153126971-153141399 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human L1CAM

Alleles and phenotypes

All alleles(9) : Targeted(8) Gene trapped(1)
 

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 Using Mouse L1cam (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (32 annotations)

Process	axon guidance, cell adhesion, ...
Component	cell surface, external side of plasma membrane, ...
Function	identical protein binding, integrin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (176 records)
Data Summary: Results (539)    Tissues (197)    Images (118)
Theiler Stages: 15, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	94
RNA in situ	434
Western blot	11

cDNA source data(133)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(147) Genomic(9) cDNA(134) 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 Knockout Project Status	L1cam

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016517	VEGA Gene Model | MGI Sequence Detail	42328	C57BL/6J
transcript	OTTMUST00000039911	VEGA | MGI Sequence Detail	5113	Not Applicable
polypeptide	OTTMUSP00000017798	VEGA | MGI Sequence Detail	1259	Not Applicable

All sequences(71) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(4) : SNPs(135 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003961	Fibronectin, type III
InterPro	IPR026966	Fibronectin type III C-terminal domain
InterPro	IPR013098	Immunoglobulin I-set
InterPro	IPR007110	Immunoglobulin-like
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:193910 Bormuth I, et al., Neuronal basic helix-loop-helix proteins Neurod2/6 regulate cortical commissure formation before midline interactions. J Neurosci. 2013 Jan 9;33(2):641-51
All references(284)

Other accession IDs

MGD-MRK-11706