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Aliases for CHL1 Gene

Aliases for CHL1 Gene

  • Cell Adhesion Molecule L1 Like 2 3 5
  • Close Homolog Of L1 2 3 4
  • Cell Adhesion Molecule With Homology To L1CAM (Close Homologue Of L1) 2 3
  • Cell Adhesion Molecule With Homology To L1CAM (Close Homolog Of L1) 2 3
  • CALL 3 4
  • Neural Cell Adhesion Molecule L1-Like Protein 3
  • Cell Adhesion Molecule L1-Like 2
  • Neural Cell Adhesion Molecule 2
  • L1 Cell Adhesion Molecule 2 3
  • L1CAM2 3

External Ids for CHL1 Gene

Previous GeneCards Identifiers for CHL1 Gene

  • GC03P000167

Summaries for CHL1 Gene

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 3P- Syndrome and Large Cell Carcinoma With Rhabdoid Phenotype. Among its related pathways are Developmental Biology and L1CAM interactions. GO annotations related to this gene include protease binding. An important paralog of this gene is NRCAM.

UniProtKB/Swiss-Prot for CHL1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHL1 Gene

Genomics for CHL1 Gene

Regulatory Elements for CHL1 Gene

Enhancers for CHL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F000244 0.5 ENCODE 11.1 +47.7 47677 0.2 FOS CHL1-AS2 RNU6-1194P CHL1
GH03F000242 0.6 ENCODE 11.1 +46.9 46930 1.3 FOS MAFK NFE2L2 TRIM28 CHL1-AS2 RNU6-1194P CHL1
GH03F000355 0.2 ENCODE 4.4 +159.0 159032 1.0 FOS CHL1 CHL1-AS1 RPS8P6
GH03F000197 0.5 ENCODE 0.8 +1.0 1006 1.1 ZFP69B KLF1 GLIS2 SP3 POLR2A GLIS1 ZBTB26 CHL1-AS2 CHL1 RNU6-1194P
GH03F000212 0.7 ENCODE 0.3 +16.0 15957 0.2 HDGF TBP PKNOX1 YBX1 RELA EED ETV6 CREM MTA2 JUNB CHL1-AS2 CHL1 RNU6-1194P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CHL1 on UCSC Golden Path with GeneCards custom track

Promoters for CHL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001844570 1004 2000 KLF1 SP3 ZFP69B POLR2A GLIS1 PRDM10 ZBTB26 EZH2

Genomic Location for CHL1 Gene

Chromosome:
3
Start:
196,596 bp from pter
End:
409,417 bp from pter
Size:
212,822 bases
Orientation:
Plus strand

Genomic View for CHL1 Gene

Genes around CHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHL1 Gene

Proteins for CHL1 Gene

  • Protein details for CHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00533-NCHL1_HUMAN
    Recommended name:
    Neural cell adhesion molecule L1-like protein
    Protein Accession:
    O00533
    Secondary Accessions:
    • B7ZL03
    • Q2M3G2
    • Q59FY0

    Protein attributes for CHL1 Gene

    Size:
    1208 amino acids
    Molecular mass:
    135071 Da
    Quaternary structure:
    • May interact with L1CAM. May interact with ITGB1/ITGA1 heterodimer and ITGB1/ITGA2 heterodimer as well as with ANK3 (By similarity).
    SequenceCaution:
    • Sequence=BAD92566.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHL1 Gene

Post-translational modifications for CHL1 Gene

  • Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in vitro and is inhibited by metalloprotease inhibitors.
  • N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity).
  • O-glycosylated.
  • Glycosylation at Asn 299, Asn 476, Asn 482, Asn 562, Asn 580, Asn 767, Asn 822, Asn 945, Asn 1026, and Asn 231
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CHL1

No data available for DME Specific Peptides for CHL1 Gene

Domains & Families for CHL1 Gene

Suggested Antigen Peptide Sequences for CHL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00533

UniProtKB/Swiss-Prot:

NCHL1_HUMAN :
  • The FIG[AQ]Y motif seems to be an ankyrin recruitment region.
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Domain:
  • The FIG[AQ]Y motif seems to be an ankyrin recruitment region.
  • The DGEA motif seems to be a recognition site for integrin.
  • Contains 4 fibronectin type-III domains.
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
genes like me logo Genes that share domains with CHL1: view

Function for CHL1 Gene

Molecular function for CHL1 Gene

GENATLAS Biochemistry:
cell adhesion L1-like,highly expressed in brain,heart,prostate,ovary,small intestine and colon,immunoglobulin superfamily
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
genes like me logo Genes that share ontologies with CHL1: view
genes like me logo Genes that share phenotypes with CHL1: view

Human Phenotype Ontology for CHL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHL1 Gene

MGI Knock Outs for CHL1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHL1 Gene

Localization for CHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHL1 Gene

Cell membrane; Single-pass type I membrane protein. Note=Soluble forms produced by cleavage/shedding also exist. {ECO:0000250}.
Processed neural cell adhesion molecule L1-like protein: Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHL1 Gene COMPARTMENTS Subcellular localization image for CHL1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 2
nucleus 2
cytosol 1
golgi apparatus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHL1: view

Pathways & Interactions for CHL1 Gene

genes like me logo Genes that share pathways with CHL1: view

Pathways by source for CHL1 Gene

Gene Ontology (GO) - Biological Process for CHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction TAS 9799093
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with CHL1: view

No data available for SIGNOR curated interactions for CHL1 Gene

Transcripts for CHL1 Gene

Unigene Clusters for CHL1 Gene

Cell adhesion molecule with homology to L1CAM (close homolog of L1):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHL1 Gene

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:
SP6: - - - - - -
SP7: - - - - - -
SP8: - - -
SP9: -
SP10:

ExUns: 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CHL1 Gene

GeneLoc Exon Structure for
CHL1
ECgene alternative splicing isoforms for
CHL1

Expression for CHL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHL1 Gene

mRNA differential expression in normal tissues according to GTEx for CHL1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.4) and Brain - Anterior cingulate cortex (BA24) (x5.0).

Protein differential expression in normal tissues from HIPED for CHL1 Gene

This gene is overexpressed in Cerebrospinal fluid (34.6) and Serum (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHL1 Gene



Protein tissue co-expression partners for CHL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHL1 Gene:

CHL1

SOURCE GeneReport for Unigene cluster for CHL1 Gene:

Hs.148909

mRNA Expression by UniProt/SwissProt for CHL1 Gene:

O00533-NCHL1_HUMAN
Tissue specificity: Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in adult peripheral tissues.
genes like me logo Genes that share expression patterns with CHL1: view

Primer Products

Orthologs for CHL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHL1 34 35
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia CHL1 34 35
  • 90.88 (n)
cow
(Bos Taurus)
Mammalia CHL1 34 35
  • 88.48 (n)
mouse
(Mus musculus)
Mammalia Chl1 34 16 35
  • 84.62 (n)
rat
(Rattus norvegicus)
Mammalia Chl1 34
  • 84.04 (n)
oppossum
(Monodelphis domestica)
Mammalia CHL1 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHL1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHL1 34 35
  • 68.98 (n)
lizard
(Anolis carolinensis)
Reptilia CHL1 35
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii chl1a 34 35
  • 54.5 (n)
CHL1 (1 of 2) 35
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nrg 36
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.25 36
  • 29 (a)
C33F10.5a 36
  • 23 (a)
C33F10.5b 36
  • 23 (a)
Species where no ortholog for CHL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHL1 Gene

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

Paralogs for CHL1 Gene

Paralogs for CHL1 Gene

(8) SIMAP similar genes for CHL1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CHL1: view

Variants for CHL1 Gene

Sequence variations from dbSNP and Humsavar for CHL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_035505 A colorectal cancer sample
rs10048911 -- 320,758(+) CAAGT(A/C)TGCCA intron-variant
rs1006032 -- 199,189(-) CGTTC(C/T)GCCAT intron-variant, upstream-variant-2KB
rs1006033 -- 198,993(-) AAACT(C/G)TGGGA intron-variant, upstream-variant-2KB
rs1006034 -- 198,980(-) AACTT(C/T)TTATT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CHL1 Gene

Variant ID Type Subtype PubMed ID
dgv1348e212 CNV loss 25503493
dgv2634e59 CNV duplication 20981092
dgv266n21 CNV loss 19592680
dgv267n21 CNV loss 19592680
dgv4607n100 CNV gain 25217958
dgv4608n100 CNV gain 25217958
dgv4613n100 CNV loss 25217958
dgv4614n100 CNV gain 25217958
dgv4615n100 CNV gain 25217958
dgv8151n54 CNV loss 21841781
dgv8152n54 CNV loss 21841781
dgv852e214 CNV gain 21293372
dgv853e214 CNV loss 21293372
esv1945808 CNV deletion 18987734
esv2271283 CNV deletion 18987734
esv24432 CNV gain 19812545
esv26398 CNV loss 19812545
esv2662179 CNV deletion 23128226
esv2663135 CNV deletion 23128226
esv2667629 CNV deletion 23128226
esv2668040 CNV deletion 23128226
esv2675472 CNV deletion 23128226
esv2751984 CNV gain 17911159
esv2759122 CNV gain+loss 17122850
esv2762308 CNV gain 21179565
esv2763731 CNV gain+loss 21179565
esv3331462 CNV duplication 20981092
esv3575526 CNV gain 25503493
esv3575528 CNV gain 25503493
esv3594872 CNV loss 21293372
esv3594873 CNV gain 21293372
esv3594892 CNV loss 21293372
esv3594893 CNV loss 21293372
esv3594894 CNV gain 21293372
esv3594895 CNV loss 21293372
esv3594896 CNV loss 21293372
esv3594898 CNV loss 21293372
esv3594899 CNV gain 21293372
esv3594900 CNV loss 21293372
esv3594901 CNV gain 21293372
esv3594902 CNV loss 21293372
esv3893585 CNV gain 25118596
esv3893587 CNV loss 25118596
esv3893588 CNV loss 25118596
esv3893589 CNV gain 25118596
esv3893591 CNV loss 25118596
esv3893592 CNV gain 25118596
nsv1001867 CNV gain 25217958
nsv1004600 CNV loss 25217958
nsv1005290 CNV loss 25217958
nsv1010970 CNV gain 25217958
nsv1013825 CNV loss 25217958
nsv1015017 CNV gain 25217958
nsv1015041 CNV gain 25217958
nsv10238 CNV gain 18304495
nsv1114340 CNV deletion 24896259
nsv1125765 CNV tandem duplication 24896259
nsv1140340 OTHER inversion 24896259
nsv1160911 CNV duplication 26073780
nsv3670 CNV deletion 18451855
nsv3671 CNV insertion 18451855
nsv3672 CNV deletion 18451855
nsv428412 CNV gain 18775914
nsv433357 CNV gain 18776910
nsv460304 CNV gain 19166990
nsv460305 CNV loss 19166990
nsv460307 CNV loss 19166990
nsv469898 CNV loss 18288195
nsv471920 CNV novel sequence insertion 20440878
nsv508206 CNV deletion 20534489
nsv526340 CNV loss 19592680
nsv589242 CNV gain 21841781
nsv589246 CNV gain 21841781
nsv589247 CNV loss 21841781
nsv589283 CNV gain 21841781
nsv589284 CNV gain 21841781
nsv589285 CNV loss 21841781
nsv589288 CNV loss 21841781
nsv589291 CNV loss 21841781
nsv589292 CNV loss 21841781
nsv589293 CNV loss 21841781
nsv589294 CNV gain 21841781
nsv818121 CNV gain 17921354
nsv834589 CNV gain 17160897
nsv999459 CNV loss 25217958

Variation tolerance for CHL1 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.50; 77.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHL1 Gene

Human Gene Mutation Database (HGMD)
CHL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHL1 Gene

Disorders for CHL1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CHL1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
3p- syndrome
  • chromosome 3pter-p25 deletion syndrome
large cell carcinoma with rhabdoid phenotype
  • large cell lung carcinoma with rhabdoid phenotype
myositis fibrosa
  • interstitial myositis
adult mesoblastic nephroma
  • benign mest
gastric small cell carcinoma
  • small cell carcinoma of stomach
- elite association - COSMIC cancer census association via MalaCards
Search CHL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CHL1

Genetic Association Database (GAD)
CHL1
Human Genome Epidemiology (HuGE) Navigator
CHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHL1
genes like me logo Genes that share disorders with CHL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHL1 Gene

Publications for CHL1 Gene

  1. Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population. (PMID: 15653271) Chen Q.Y. … He L. (Schizophr. Res. 2005) 3 22 46 64
  2. An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. (PMID: 11986985) Sakurai K. … Arinami T. (Mol. Psychiatry 2002) 3 22 46 64
  3. In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. (PMID: 9799093) Wei M.-H. … Lerman M.I. (Hum. Genet. 1998) 2 3 4 64
  4. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for CHL1 Gene

Sources for CHL1 Gene

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