AutismKB

Annotation Detail for L1CAM


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Basic Information Top
Gene Symbol:L1CAM ( CAML1,CD171,HSAS,HSAS1,MASA,MIC5,N-CAML1,S10,SPG1 )
Gene Full Name: L1 cell adhesion molecule
Band: Xq28
Quick LinksEntrez ID:3897; OMIM: 308840; Uniprot ID:L1CAM_HUMAN; ENSEMBL ID: ENSG00000198910
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005624IEA-membrane fraction-
GO:0005886EXP-plasma membrane12082080
GO:0005886TAS-plasma membrane-
GO:0009897IEA-external side of plasma membrane-
GO:0016021IEA-integral to membrane-
GO:0042734IEA-presynaptic membrane-
GO:0043195IEA-terminal button-
GO ID Evidence Qualifier GO_term References
GO:0005178IEA-integrin binding-
GO:0030165IEA-PDZ domain binding-
GO:0033691IEA-sialic acid binding-
GO:0042802IEA-identical protein binding-
GO:0043621IEA-protein self-association-
GO ID Evidence Qualifier GO_term References
GO:0007155IEA-cell adhesion-
GO:0007156IEA-homophilic cell adhesion-
GO:0007157IEA-heterophilic cell-cell adhesion-
GO:0007159IEA-leukocyte cell-cell adhesion-
GO:0007166IEA-cell surface receptor linked signaling pathway-
GO:0007275IEA-multicellular organismal development-
GO:0007399IEA-nervous system development-
GO:0007411TAS-axon guidance-
GO:0007596TAS-blood coagulation-
GO:0008219IEA-cell death-
GO:0022409IEA-positive regulation of cell-cell adhesion-
GO:0030154IEA-cell differentiation-
GO:0031175IEA-neuron projection development-
GO:0033631IEA-cell-cell adhesion mediated by integrin-
GO:0034109IEA-homotypic cell-cell adhesion-
GO:0050850IEA-positive regulation of calcium-mediated signaling-
GO:0050900TAS-leukocyte migration-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
L1CAMAP2A110666912942088 Affinity Capture-Western
L1CAMAP2A111009412942088 Affinity Capture-Western
L1CAMANK111009411222639 Co-localization
L1CAMANK110678311222639 Co-localization
L1CAMNCAN1100947513709 Reconstituted Complex
L1CAMNCAN1078457513709 Reconstituted Complex
L1CAMITGA510988410871287 Reconstituted Complex
L1CAMITGA511009410871287 Reconstituted Complex
L1CAMITGAV10989110871287 Reconstituted Complex
L1CAMITGAV11009410871287 Reconstituted Complex
EZRL1CAM11009412070130 Reconstituted Complex
EZRL1CAM11327112070130 Reconstituted Complex
CNTN2L1CAM11276312139915 Reconstituted Complex
CNTN2L1CAM11009412139915 Reconstituted Complex
NUMBL1CAM11420212942088 Affinity Capture-Western
NUMBL1CAM11009412942088 Affinity Capture-Western
PEA15L1CAM11423016169070 Two-hybrid
PEA15L1CAM11009416169070 Two-hybrid
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_107655 chrX:152800361-152801931 20482838 Custom Agilent 24M aCGH 1 0 1- 1 control sample (J. Craig Venter)
No data
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
L1CAML1CAM_10564G/A, L1CAM_13504C/T, L1CAM_8575A/C Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:96721
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:1857443L1cam[tm1Sor]Allele from Mouse Targeted (knock-out)
  • pigmentation phenotype
  • nervous system phenotype
  • growth/size phenotype
  • endocrine/exocrine gland phenotype
  • behavior/neurological phenotype
  • reproductive system phenotype
  • vision/eye phenotype
MGI:2181735L1cam[tm1Mtei]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • growth/size phenotype
  • craniofacial phenotype
  • behavior/neurological phenotype
  • skeleton phenotype
  • vision/eye phenotype
MGI:2682895L1cam[tm1Fmo]Allele from Mouse Targeted (Floxed/Frt)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3040292L1cam[tm1Vlem]Allele from Mouse Targeted (Floxed/Frt)
  • no phenotypic analysis
MGI:3040294L1cam[tm1.1Vlem]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
MGI:3624137L1cam[tm1(tTA)Msch]Allele from Mouse Targeted (knock-in)
  • nervous system phenotype
  • growth/size phenotype
  • craniofacial phenotype
  • skeleton phenotype