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CHL1 Gene

protein-coding   GIFtS: 64
GCID: GC03P000213

Cell Adhesion Molecule L1-Like

(Previous names: cell adhesion molecule with homology to L1CAM (close homologue...)
  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
Cell Adhesion Molecule L1-Like1 2     L1CAM22 5
Close Homolog Of L11 2 3     Neural Cell Adhesion Molecule1
CALL2 3 5     L1 Cell Adhesion Molecule 22
Cell Adhesion Molecule With Homology To L1CAM (Close Homolog Of L1)1 2     Neural Cell Adhesion Molecule L1-Like Protein2
Cell Adhesion Molecule With Homology To L1CAM (Close Homologue Of L1)1 2     

External Ids:    HGNC: 19391   Entrez Gene: 107522   Ensembl: ENSG000001341217   OMIM: 6074165   UniProtKB: O005333   

Export aliases for CHL1 gene to outside databases

Previous GC identifer: GC03P000167


(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 CHL1 Gene:
The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a
neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of
this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role
in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. (provided by
RefSeq, Nov 2011)

GeneCards Summary for CHL1 Gene:
CHL1 (cell adhesion molecule L1-like) is a protein-coding gene. Diseases associated with CHL1 include distal monosomy 3p, and angiomyolipoma. GO annotations related to this gene include protease binding. An important paralog of this gene is NEO1.

UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533
Function: Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in
synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal
neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in
regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in
regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell
migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity)

Gene Wiki entry for CHL1 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_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHL1 gene promoter:
         Oct-B1   Sox5   oct-B2   POU2F1   oct-B3   POU2F1a   Olf-1   MyoD   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHL1 promoter sequence
   Search Chromatin IP Primers for CHL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHL1


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

Entrez Gene cytogenetic band: 3p26.1   Ensembl cytogenetic band:  3p26.3   HGNC cytogenetic band: 3p26

CHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHL1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P000213:  view genomic region     (about GC identifiers)

Start:
238,279 bp from pter      End:
451,098 bp from pter
Size:
212,820 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533 (See protein sequence)
Recommended Name: Neural cell adhesion molecule L1-like protein precursor  
Size: 1208 amino acids; 135071 Da
Subunit: May interact with L1CAM. May interact with ITGB1/ITGA1 heterodimer and ITGB1/ITGA2 heterodimer as well as
with ANK3 (By similarity)
Sequence caution: Sequence=BAD92566.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B7ZL03 Q2M3G2 Q59FY0
Alternative splicing: 2 isoforms:  O00533-1   O00533-2   (Glycosylated on Asn-231)

Explore the universe of human proteins at neXtProt for CHL1: NX_O00533

Explore proteomics data for CHL1 at MOPED

Post-translational modifications: 

  • Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in
    vitro and is inhibited by metalloprotease inhibitors1
  • N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1
    (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity)1
  • O-glycosylated (By similarity)1
  • Glycosylation2 at Asn299, Asn476, Asn482, Asn562, Asn580, Asn767, Asn822, Asn945, Asn1026
  • Modification sites at PhosphoSitePlus

  • See CHL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001240316.1  NP_001240317.1  NP_006605.2  

    ENSEMBL proteins: 
     ENSP00000256509   ENSP00000380628   ENSP00000403311   ENSP00000413628   ENSP00000413109  
     ENSP00000397445   ENSP00000390440   ENSP00000395239  
    Reactome Protein details: O00533

    CHL1 Human Recombinant Protein Products:

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    (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
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 7):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry O00533

    ProtoNet protein and cluster: O00533

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB003962 Fibronectin type III repeat signature
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533
    Domain: The FIG[AQ]Y motif seems to be an ankyrin recruitment region
    Domain: The DGEA motif seems to be a recognition site for integrin
    Similarity: Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 6 Ig-like C2-type (immunoglobulin-like) domains


    CHL1 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: CHL1_HUMAN, O00533
    Function: Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in
    synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal
    neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in
    regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in
    regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell
    migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity)

         Genatlas biochemistry entry for CHL1:
    cell adhesion L1-like,highly expressed in brain,heart,prostate,ovary,small intestine and colon,immunoglobulin
    superfamily

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0005515protein binding ----
         
    CHL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CHL1:
     Decreased homologous recombina  Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chl1):
     behavior/neurological  craniofacial  nervous system  respiratory system  taste/olfaction 

    CHL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chl1tm1Mtg for CHL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHL1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHL1

    miRNA
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    miRTarBase miRNAs that target CHL1:
    hsa-mir-181a-5p (MIRT025148), hsa-mir-132-3p (MIRT021831), hsa-mir-335-5p (MIRT018587), hsa-mir-10a-5p (MIRT007021)

    Block miRNA regulation of human, mouse, rat CHL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHL1 (see all 66):
    hsa-miR-607 hsa-miR-30d hsa-miR-30a hsa-miR-3622b-3p hsa-miR-29a* hsa-miR-3148 hsa-miR-4289 hsa-miR-130a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHL1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHL1


    (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
    CHL1_HUMAN, O00533: Cell membrane; Single-pass type I membrane protein (By similarity). Note=Soluble forms
    produced by cleavage/shedding also exist (By similarity)
    CHL1_HUMAN, O00533: Processed neural cell adhesion molecule L1-like protein: Secreted, extracellular space,
    extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0030425dendrite IEA--
    GO:0045177apical part of cell IEA--

    CHL1 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 CHL1 About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    CHL1 interactions0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for CHL1
        CHL1 interactions



    CHL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHL1
    Interactions:

        Search GeneGlobe Interaction Network for CHL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for CHL1 (O005333 ENSP000002565094) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUNP054123, ENSP000003602664I2D: score=1 STRING: ENSP00000360266
    PTPRAP184333, ENSP000003697564I2D: score=1 STRING: ENSP00000369756
    CNTN6Q9UQ523, ENSP000003418824I2D: score=1 STRING: ENSP00000341882
    YWHAGP619813I2D: score=2 
    E2F1Q010943I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction TAS9799093
    GO:0007411axon guidance TAS--
    GO:0008344adult locomotory behavior IEA--

    CHL1 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 CHL1



    (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,
    Conferences by KenesGroup, 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 CHL1 gene (3 alternative transcripts): 
    NM_001253387.1  NM_001253388.1  NM_006614.3  

    Unigene Cluster for CHL1:

    Cell adhesion molecule with homology to L1CAM (close homolog of L1)
    Hs.148909  [show with all ESTs]
    Unigene Representative Sequence: NM_006614
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256509(uc003bot.3 uc003bou.3 uc011asi.2) ENST00000481167
    ENST00000397491 ENST00000427688 ENST00000421198 ENST00000489224(uc003bov.2)
    ENST00000453040(uc003bow.2) ENST00000435603 ENST00000486881 ENST00000449294
    ENST00000461289 ENST00000471332 ENST00000470880 ENST00000470005 ENST00000445697

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    Selected qRT-PCR Assays for microRNAs that regulate CHL1 (see all 66):
    hsa-miR-607 hsa-miR-30d hsa-miR-30a hsa-miR-3622b-3p hsa-miR-29a* hsa-miR-3148 hsa-miR-4289 hsa-miR-130a*
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      QuantiFast Probe-based Assays in human, mouse, rat CHL1

    Additional mRNA sequence: 

    AB209329.1 AF002246.1 AK126878.1 BC104918.1 BC143496.1 BC143498.1 

    11 DOTS entries:

    DT.415441  DT.91933996  DT.99990744  DT.95267255  DT.100754976  DT.75101724  DT.75131541  DT.99933348 
    DT.100754975  DT.120917968  DT.91913596 

    Selected AceView cDNA sequences (see all 87):

    BX281365 BX472763 BI826070 CD673182 BF197230 BF056756 AI828871 NM_006614 
    CR749682 BF062227 AL359583 BE677386 AV726866 N64008 AI360581 F05271 
    BG700745 AI971581 AU121259 AI969665 AW204032 AU133694 BE501503 AI341141 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHL1 (see all 10)    About this scheme

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

    ExUns: 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b
    SP1:                                -                                                                     
    SP2:                                -                                                                     
    SP3:                                -                                                                     
    SP4:                                                                                                      
    SP5:                                                                          -                           


    ECgene alternative splicing isoforms for CHL1

    (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)
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    CHL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGTACAGC
    CHL1 Expression
    About this image


    CHL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             Caudal astrospheres
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Neural rosettes
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Kidney (Urinary System)
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
    CHL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.148909

    UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533
    Tissue specificity: Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in
    adult peripheral tissues

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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 CHL1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chl11 , 5 cell adhesion molecule with homology to L1CAM1, 5 84.62(n)1
    84.92(a)1
      6 (47.97 cM)5
    126611  NM_007697.21  NP_031723.21 
     1035108765 
    chicken
    (Gallus gallus)
    Aves CHL11 cell adhesion molecule with homology to L1CAM (close more 68.98(n)
    64.93(a)
      416102  XM_414434.4  XP_414434.3 
    lizard
    (Anolis carolinensis)
    Reptilia CHL16
    cell adhesion molecule L1-like
    58(a)
    1 ↔ 1
    2(176790205-176885366)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377139422   -- 70.6(n)    137713942 
    zebrafish
    (Danio rerio)
    Actinopterygii chl1a1 cell adhesion molecule with homology to L1CAM (close more 54.5(n)
    46.88(a)
      566148  NM_001163106.1  NP_001156578.1 


    ENSEMBL Gene Tree for CHL1 (if available)
    TreeFam Gene Tree for CHL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHL1 gene
    NEO12  ROBO12  CNTN52  CNTN42  IGDCC42  NRCAM2  L1CAM2  ROBO22  
    CNTN22  CNTN62  NFASC2  CNTN32  DCC2  PRTG2  IGDCC32  ROBO32  
    CNTN12  
    8 SIMAP similar genes for CHL1 using alignment to 7 protein entries:     CHL1_HUMAN (see all proteins):
    L1CAM    NRCAM    NFASC    PXDN    PTPRS    HSPG2
    MUSK    DKFZp781D102

    CHL1 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 CHL1 (see all 6237)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355054
    A colorectal cancer sample4--see VAR_0355052 L I mis40--------
    rs1475740331,2
    --236279(+) GGGGAC/GGGTTC 2 -- us2k10--------
    rs1426263881,2
    --236302(+) AGAAGA/GTATCT 2 -- us2k10--------
    rs1468901161,2
    --236321(+) CATCCA/GCTCTG 2 -- us2k10--------
    rs2006098521,2
    C--236440(-) TCATAC/TTTTTG 2 -- us2k10--------
    rs560393041,2
    C--236451(+) ACTCAT/ACCTTG 2 -- us2k13Minor allele frequency- A:0.10NA EA 242
    rs560328051,2
    C,F--236502(+) AGGTCA/GTCTGT 2 -- us2k19Minor allele frequency- G:0.37WA NA CSA EA 368
    rs796346181,2
    --236585(+) ATCCTC/TCCTCC 2 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs286677501,2
    C,F--236589(+) TTCCTC/TCCTTC 2 -- us2k1 trp33Minor allele frequency- T:0.50NA WA CSA 6
    rs720122281,2
    C--236590(+) CCTCC-/CCTT  
            
    CTTCC
    2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHL1 (238279 - 451098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHL1 (see all 40):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1945808CNV Deletion18987734
    esv2663135CNV Deletion23128226
    esv2271283CNV Deletion18987734
    esv2668040CNV Deletion23128226
    esv2675472CNV Deletion23128226
    esv2662179CNV Deletion23128226
    esv2667629CNV Deletion23128226
    nsv3671CNV Insertion18451855
    nsv460307CNV Loss19166990
    nsv3670CNV Loss18451855

    Human Gene Mutation Database (HGMD): CHL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHL1
    DNA2.0 Custom Variant and Variant Library Synthesis for CHL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607416    OMIM disorders: --

    20 diseases for CHL1:    
    About MalaCards
    distal monosomy 3p    angiomyolipoma    hydrocephalus    schizophrenia
    coronary artery disease    insulin resistance    mental retardation    cervical cancer
    breast and colorectal cancer    type 1 diabetes    cervicitis    ovarian cancer
    obesity    colorectal cancer    prostate cancer    neuronitis
    leukemia    breast cancer    prostatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for CHL1:
    Leukemia

    CHL1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CHL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 20.4 18 15653271 (4), 11986985 (3)

    Genetic Association Database (GAD): CHL1
    Human Genome Epidemiology (HuGE) Navigator: CHL1 (7 documents)

    Export disorders for CHL1 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 CHL1 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with CHL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. (PubMed id 9799093)1, 2, 3 Wei M.-H.... Lerman M.I. (Hum. Genet. 1998)
    2. Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population. (PubMed id 15653271)1, 4, 9 Chen Q.Y....He L. (Schizophr. Res. 2005)
    3. An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. (PubMed id 11986985)1, 4, 9 Sakurai K....Arinami T. (Mol. Psychiatry 2002)
    4. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (BMC Cardiovasc Disord 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    7. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer. (PubMed id 19509545)1, 9 Manderson E.N....Tonin P.N. (Int. J. Gynecol. Cancer 2009)

    (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: 10752 HGNC: 1939 AceView: CHL1 Ensembl:ENSG00000134121 euGenes: HUgn10752
    ECgene: CHL1 H-InvDB: CHL1

    (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 CHL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CHL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHL1 gene:
    Search GeneIP for patents involving CHL1

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



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