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L1CAM Gene

protein-coding   GIFtS: 72
GCID: GC0XM153126

L1 Cell Adhesion Molecule

(Previous name: antigen identified by monoclonal antibody R1)
(Previous symbols: HSAS1, SPG1, HSAS, MASA, MIC5, S10)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
L1 Cell Adhesion Molecule1 2     Antigen Identified By Monoclonal Antibody R11 2
MIC51 2 3     N-CAM-L12 3
HSAS11 2 5     NCAM-L12 3
MASA1 2 5     CD1712
SPG11 2 5     N-CAML12
CAML12 3 5     Neural Cell Adhesion Molecule L12
HSAS1 2     CD171 Antigen3
S101 2     

External Ids:    HGNC: 64701   Entrez Gene: 38972   Ensembl: ENSG000001989107   OMIM: 3088405   UniProtKB: P320043   

Export aliases for L1CAM gene to outside databases

Previous GC identifers: GC0XM147264 GC0XM149581 GC0XM150712 GC0XM151595 GC0XM152648 GC0XM152780 GC0XM141783


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for L1CAM Gene:
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The
ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked
via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an
important role in nervous system development, including neuronal migration and differentiation. Mutations in the
gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia,
spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants,
some of which include an alternate exon that is considered to be specific to neurons. (provided by RefSeq, May
2013)

GeneCards Summary for L1CAM Gene:
L1CAM (L1 cell adhesion molecule) is a protein-coding gene. Diseases associated with L1CAM include hydrocephalus due to aqueductal stenosis, and hydrocephalus with congenital idiopathic intestinal pseudoobstruction. GO annotations related to this gene include protein self-association and identical protein binding. An important paralog of this gene is CHL1.

UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004
Function: Cell adhesion molecule with an important role in the development of the nervous system. Involved in
neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons

Gene Wiki entry for L1CAM (L1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the L1CAM gene promoter:
         CREB   AP-1   deltaCREB   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): L1CAM promoter sequence
   Search Chromatin IP Primers for L1CAM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat L1CAM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

L1CAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
L1CAM gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM153126:  view genomic region     (about GC identifiers)

Start:
153,126,969 bp from pter      End:
153,174,677 bp from pter
Size:
47,709 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004 (See protein sequence)
Recommended Name: Neural cell adhesion molecule L1 precursor  
Size: 1257 amino acids; 140003 Da
Secondary accessions: A0AV65 A4ZYW4 B2RMU7 G3XAF4 Q8TA87
Alternative splicing: 3 isoforms:  P32004-1   P32004-2   P32004-3   (Contains a phosphoserine at position 1172)

Explore the universe of human proteins at neXtProt for L1CAM: NX_P32004

Explore proteomics data for L1CAM at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn100, Asn203, Asn247, Asn294, Asn433, Asn479, Asn490, Asn505, Asn588, Asn671,
                                 Asn726, Asn777, Asn825, Asn849, Asn876, Asn979, Asn1022, Asn1030, Asn1071, Asn1105
  • Modification sites at PhosphoSitePlus

  • See L1CAM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000416.1  NP_001137435.1  NP_001265045.1  NP_076493.1  

    ENSEMBL proteins: 
     ENSP00000359077   ENSP00000359072   ENSP00000359075   ENSP00000355380   ENSP00000397792  
     ENSP00000402407   ENSP00000384902   ENSP00000392524   ENSP00000396079   ENSP00000438430  
     ENSP00000359074   ENSP00000439645   ENSP00000354712  
    Reactome Protein details: P32004

    L1CAM Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for L1CAM
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    Sino Biological Recombinant Protein for L1CAM
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    Cloud-Clone Corp. Proteins for L1CAM

    L1CAM Antibody Products:

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    Abcam antibodies for L1CAM
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    LSBio Antibodies in human, mouse, rat for L1CAM

    L1CAM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for L1CAM
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    Cloud-Clone Corp. ELISAs for L1CAM
    Cloud-Clone Corp. CLIAs for L1CAM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules
    ISET: Immunoglobulin superfamily / I-set domain containing

    Selected InterPro protein domains (see all 7):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set

    Graphical View of Domain Structure for InterPro Entry P32004

    ProtoNet protein and cluster: P32004

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004
    Similarity: Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family
    Similarity: Contains 5 fibronectin type-III domains
    Similarity: Contains 6 Ig-like C2-type (immunoglobulin-like) domains


    L1CAM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: L1CAM_HUMAN, P32004
    Function: Cell adhesion molecule with an important role in the development of the nervous system. Involved in
    neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons

         Genatlas biochemistry entry for L1CAM:
    cell adhesion molecule L1,expressed in the nervous system,Ig superfamily

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005515protein binding ----
    GO:0033691sialic acid binding IEA--
    GO:0042802identical protein binding IEA--
    GO:0043621protein self-association IEA--
         
    L1CAM for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for L1CAM:
     Decreased Salmonella enterica   Decreased cilium length after  

         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for L1cam):
     behavior/neurological  cellular  craniofacial  growth/size/body  integument 
     mortality/aging  nervous system  no phenotypic analysis  pigmentation  reproductive system 
     skeleton  vision/eye 

    L1CAM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for L1CAM: L1camtm1Mtei L1camtm1Sor L1camtm1.1Vlem

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for L1CAM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for L1CAM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for L1CAM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for L1CAM

    miRNA
    Products:
        
    miRTarBase miRNAs that target L1CAM:
    hsa-mir-26b-5p (MIRT030212), hsa-mir-1 (MIRT024085), hsa-mir-16-5p (MIRT032036), hsa-mir-124-3p (MIRT023076), hsa-mir-335-5p (MIRT019015), hsa-mir-146a-5p (MIRT035533)

    Block miRNA regulation of human, mouse, rat L1CAM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate L1CAM (see all 39):
    hsa-miR-24-1* hsa-miR-374a hsa-miR-890 hsa-miR-654-5p hsa-miR-629 hsa-miR-330-3p hsa-miR-520g hsa-miR-497*
    SwitchGear 3'UTR luciferase reporter plasmidL1CAM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for L1CAM
    Predesigned siRNA for gene silencing in human, mouse, rat L1CAM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for L1CAM

    Clone
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    OriGene clones in human, mouse for L1CAM (see all 16)
    OriGene ORF clones in mouse, rat for L1CAM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): L1CAM (NM_000425)
    Sino Biological Human cDNA Clone for L1CAM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for L1CAM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat L1CAM

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for L1CAM 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for L1CAM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    L1CAM_HUMAN, P32004: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus3
    cytoskeleton2
    extracellular2
    peroxisome2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IEA--
    GO:0009986cell surface ----
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    L1CAM for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for L1CAM About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    2Hemostasis
    Hemostasis0.43
    3VEGF Pathway
    Development VEGF family signaling0.36
    4Endocytic Trafficking of EGFR
    Recycling pathway of L10.33
    5Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for L1CAM
        Transcriptional Regulatory Network in Embryonic Stem Cell

    1 GeneGo (Thomson Reuters) Pathway for L1CAM
        Development VEGF-family signaling


    5 Reactome Pathways for L1CAM
        L1CAM interactions
    Recycling pathway of L1
    Signal transduction by L1
    Interaction between L1 and Ankyrins
    Basigin interactions


    2 Kegg Pathways  (Kegg details for L1CAM):
        Axon guidance
    Cell adhesion molecules (CAMs)


    L1CAM for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including L1CAM: 
              Estrogen Receptor Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for L1CAM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for L1CAM (P320042, 3 ENSP000003590744) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNTN2Q022463, ENSP000003306334I2D: score=4 STRING: ENSP00000330633
    RANBP9Q96S593, ENSP000000116194I2D: score=4 STRING: ENSP00000011619
    ANK1P161573, ENSP000002657094I2D: score=3 STRING: ENSP00000265709
    NUMBP497573, ENSP000003471694I2D: score=3 STRING: ENSP00000347169
    CNTN1Q128603, ENSP000003256604I2D: score=2 STRING: ENSP00000325660
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006935chemotaxis TAS19909241
    GO:0007155cell adhesion NAS7920659
    GO:0007156homophilic cell adhesion IEA--
    GO:0007157heterophilic cell-cell adhesion IEA--
    GO:0007159leukocyte cell-cell adhesion IEA--

    L1CAM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for L1CAM

    3 Novoseek inferred chemical compound relationships for L1CAM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanine 21.6 2 9118141 (1), 19685344 (1)
    tyrosine 0 1 9371782 (1)
    glutamate 0 1 9118141 (1)



    L1CAM for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for L1CAM gene (4 alternative transcripts): 
    NM_000425.4  NM_001143963.2  NM_001278116.1  NM_024003.3  

    Unigene Cluster for L1CAM:

    L1 cell adhesion molecule
    Hs.522818  [show with all ESTs]
    Unigene Representative Sequence: NM_000425
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000370060(uc004fjb.3 uc004fjc.3 uc010nuo.3) ENST00000370055(uc022chz.1)
    ENST00000370058 ENST00000361699(uc004fjd.1) ENST00000491983 ENST00000474853
    ENST00000455590 ENST00000496122 ENST00000484652 ENST00000439496 ENST00000407935
    ENST00000464967 ENST00000420165 ENST00000458029 ENST00000460553 ENST00000484587
    ENST00000543994 ENST00000370057
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate L1CAM (see all 39):
    hsa-miR-24-1* hsa-miR-374a hsa-miR-890 hsa-miR-654-5p hsa-miR-629 hsa-miR-330-3p hsa-miR-520g hsa-miR-497*
    SwitchGear 3'UTR luciferase reporter plasmidL1CAM 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): L1CAM (NM_000425)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat L1CAM
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat L1CAM
      QuantiFast Probe-based Assays in human, mouse, rat L1CAM

    Additional mRNA sequence: 

    AB102653.1 AK289754.1 AY927549.1 AY927629.1 BC025843.1 BC126229.1 BC136447.1 EF506611.1 
    M55271.1 M74387.1 M77640.1 X58776.1 X59847.1 

    14 DOTS entries:

    DT.309885  DT.100026925  DT.95127819  DT.91767799  DT.121319567  DT.86859134  DT.100748607  DT.100835504 
    DT.121319473  DT.121319481  DT.40114908  DT.91724670  DT.91767800  DT.92065098 

    Selected AceView cDNA sequences (see all 168):

    BQ224417 CR603016 BF447548 M55271 BQ433275 AU125572 NM_000425 BF940373 
    M74387 BU539129 BI754787 BX102839 AL515194 BF434270 BU163011 BQ641685 
    AI553816 BG251775 X58776 BF528116 BI868491 BQ718836 NM_024003 BC025843 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for L1CAM (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^
    SP1:                                                                          -                                                                       -         
    SP2:        -                                                                                                                                                   
    SP3:                                                                                                                    -                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29a · 29b
    SP1:                                                  -                     
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for L1CAM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    L1CAM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGGCTTTC
    L1CAM Expression
    About this image


    L1CAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             Non-myelinating Schwann Cells Peripheral Nerve Domain
             Schwann-like cells
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Schwann Cells (Nervous System)
             Schwann-like cells
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
    L1CAM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    L1CAM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522818
        Pathway & Disease-focused RT2 Profiler PCR Array including L1CAM: 
              Estrogen Receptor Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for L1CAM gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia L1cam1 , 5 L1 cell adhesion molecule1, 5 85.8(n)1
    88.61(a)1
      X (37.43 cM)5
    167281  NM_008478.31  NP_032504.31 
     738537785 
    chicken
    (Gallus gallus)
    Aves L1CAM1 L1 cell adhesion molecule 58.39(n)
    49.75(a)
      396059  NM_205153.1  NP_990484.1 
    lizard
    (Anolis carolinensis)
    Reptilia L1CAM6
    L1 cell adhesion molecule
    49(a)
    1 ↔ 1
    2(87951355-88034968)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.342152 Xenopus laevis transcribed sequence with moderate similarity more 78.18(n)    CF284442.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nadl1.12 neural adhesion molecule L1.1 75.66(n)   30656  AY376855.1 


    ENSEMBL Gene Tree for L1CAM (if available)
    TreeFam Gene Tree for L1CAM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for L1CAM gene
    CHL12  NEO12  ROBO12  CNTN52  CNTN42  IGDCC42  NRCAM2  ROBO22  
    CNTN22  CNTN62  NFASC2  CNTN32  DCC2  PRTG2  IGDCC32  ROBO32  
    CNTN12  
    Selected SIMAP similar genes for L1CAM using alignment to 18 protein entries:     L1CAM_HUMAN (see all proteins) (see all similar genes):
    PTPRS    SDK2    NRCAM    USH2A    PTPRD    NFASC
    CHL1    MDGA1    NEO1    MUSK    CNTN3    SDK1
    CNTN5    DCC    PTPRQ    FNDC3B    ITGB4    DKFZp781D102

    L1CAM for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for L1CAM (see all 681)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289336831,2,,4
    C,FMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)4 untested1153004251(-) TGCCAA/C/G/
            
    GCCCA
    21 Q H mis1 ese31NA 4550
    VAR_0039274
    Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)4--see VAR_0039272 I T mis40--------
    VAR_0304044
    Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)4--see VAR_0304042 R W mis40--------
    VAR_0039474
    Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)4--see VAR_0039472 S L mis40--------
    VAR_0039364
    Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)4--see VAR_0039362 R C mis40--------
    VAR_0039244
    Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)4--see VAR_0039242 R Q mis40--------
    VAR_0304094
    Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)4--see VAR_0304092 V D mis40--------
    VAR_0039214
    Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)4--see VAR_0039212 W S mis40--------
    VAR_0304074
    Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)4--see VAR_0304072 W C mis40--------
    VAR_0039334
    Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)4--see VAR_0039332 R C mis40--------

    HapMap Linkage Disequilibrium report for L1CAM (153126969 - 153174677 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for L1CAM:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7159CNV Loss18451855
    esv33199CNV Gain+Loss17666407
    nsv469867CNV Complex16826518

    Human Gene Mutation Database (HGMD): L1CAM
    Locus Specific Mutation Databases (LSDB): L1CAM

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing L1CAM
    DNA2.0 Custom Variant and Variant Library Synthesis for L1CAM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 308840   
    OMIM disorders: 307000  303350  304100  
    UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004
  • Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]: Hydrocephalus is a
    condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial
    pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles
    or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of
    the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the
    syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by mental retardation and enlarged
    brain ventricles. Note=The disease is caused by mutations affecting the gene represented in this entry. L1CAM
    mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a
    role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease
    (PubMed:22344793)
  • Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]: An
    X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity
    and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features
    of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest
    corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that
    patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spastic paraplegia 1, X-linked (SPG1) [MIM:303350]: A form of spastic paraplegia, a neurodegenerative
    disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of
    progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with
    balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of
    the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to
    other parts of the body. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung
    disease-associated genes to cause intestinal aganglionosis
  • Agenesis of the corpus callosum, X-linked, partial (ACCPX) [MIM:304100]: A syndrome characterized by
    partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and
    spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for L1CAM (see all 70):    
    About MalaCards
    hydrocephalus due to aqueductal stenosis    hydrocephalus with congenital idiopathic intestinal pseudoobstruction    hydrocephalus with hirschsprung disease    x-linked complicated spastic paraplegia type 1
    aphasia    partial agenesis of corpus callosum    l1 syndrome    spastic paraplegia 1
    mecp2 duplication syndrome    obstructive hydrocephalus    hydrocephalus    spastic diplegia
    porencephaly    adult syndrome    corpus callosum agenesis    hirschsprung's disease
    diabetes insipidus    nephrogenic diabetes insipidus    acrocallosal syndrome    anaplastic oligodendroglioma

    6 diseases from the University of Copenhagen DISEASES database for L1CAM:
    Hydrocephalus     Paraplegia     Intellectual disability     Aphasia
    Hirschsprung's disease     Cancer

    L1CAM for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for L1CAM gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    masa syndrome 96.8 17 7920660 (3), 15904436 (2), 7562969 (2), 9222959 (1) (see all 11)
    spastic paraplegia 92.2 12 7562969 (2), 17294222 (1), 16650080 (1), 9744477 (1) (see all 11)
    congenital hydrocephalus 86 5 11857550 (1), 9088116 (1), 16650080 (1), 10797421 (1) (see all 5)
    hydrocephalus 85.2 68 9279760 (4), 15148591 (3), 9118141 (3), 17328266 (3) (see all 39)
    mental retardation 75.2 16 9440802 (1), 12442287 (1), 17294222 (1), 19090026 (1) (see all 14)
    aqueductal stenosis 70.5 3 11857550 (1), 11787037 (1), 17318848 (1)
    hirschsprung disease 69.1 13 11857550 (3), 9279760 (2), 19641926 (1), 11897831 (1) (see all 7)
    severe mental retardation 65.1 2 16816908 (1), 17328266 (1)
    hypoplasia 65.1 5 11701594 (1), 11787037 (1), 10797421 (1), 15904436 (1) (see all 5)
    diabetes insipidus nephrogenic 62.7 3 18553546 (1), 8323561 (1), 17318848 (1)

    GeneTests: L1CAM
    GeneReviews: L1CAM
    Genetic Association Database (GAD): L1CAM
    Human Genome Epidemiology (HuGE) Navigator: L1CAM (13 documents)

    Export disorders for L1CAM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for L1CAM gene, integrated from 10 sources (see all 278):
    (articles sorted by number of sources associating them with L1CAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. (PubMed id 9744477)1, 2, 9 Saugier-Veber P.... Frebourg T. (Hum. Mutat. 1998)
    2. Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non- allelic heterogeneity of the trait. (PubMed id 9268105)1, 2, 9 Gu S.-M.... Gal A. (Am. J. Med. Genet. 1997)
    3. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? (PubMed id 11857550)1, 2, 9 Parisi M.A.... Leppig K.A. (Am. J. Med. Genet. 2002)
    4. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. (PubMed id 9832035)1, 2, 9 Michaelis R.C.... Schwartz C.E. (J. Med. Genet. 1998)
    5. Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. (PubMed id 7562969)1, 2, 9 Ruiz J.C....Cassiman J.-J. (J. Med. Genet. 1995)
    6. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. (PubMed id 7920660)1, 2, 9 Vits L.... Willems P.J. (Nat. Genet. 1994)
    7. Expanding the phenotypic spectrum of L1CAM-associated disease. (PubMed id 16650080)1, 2, 9 Basel-Vanagaite L.... Schwartz C.E. (Clin. Genet. 2006)
    8. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. (PubMed id 10797421)1, 2, 9 Finckh U.... Gal A. (Am. J. Med. Genet. 2000)
    9. Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. (PubMed id 9521424)1, 2, 9 Du Y.-Z.... Schwartz C.E. (Hum. Mutat. 1998)
    10. Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. (PubMed id 8929944)1, 2, 9 Gu S.-M.... Gal A. (J. Med. Genet. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3897 HGNC: 6470 AceView: L1CAM Ensembl:ENSG00000198910 euGenes: HUgn3897
    ECgene: L1CAM Kegg: 3897 H-InvDB: L1CAM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for L1CAM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for L1CAM Genetics and Cytogenetics in Oncology and Haematology
    L1CAMhttp://www.rug.nl/umcg/faculteit/disciplinegroepen/medischegenetica/hereditarydiseases/L1cam/index
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=L1CAM[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for L1CAM gene:
    Search GeneIP for patents involving L1CAM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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