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Aliases for CNTN1 Gene

Aliases for CNTN1 Gene

  • Contactin 1 2 3 5
  • Neural Cell Surface Protein F3 3 4
  • Glycoprotein GP135 2 3
  • Glycoprotein Gp135 4
  • GP135 3
  • MYPCN 3
  • F3 3

External Ids for CNTN1 Gene

Previous GeneCards Identifiers for CNTN1 Gene

  • GC12P041375
  • GC12P040985
  • GC12P040803
  • GC12P039372
  • GC12P039508
  • GC12P041086
  • GC12P038113

Summaries for CNTN1 Gene

Entrez Gene Summary for CNTN1 Gene

  • The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for CNTN1 Gene

CNTN1 (Contactin 1) is a Protein Coding gene. Diseases associated with CNTN1 include myopathy, congenital, compton-north and congenital lethal myopathy, compton-north type. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include carbohydrate binding and glycoprotein binding. An important paralog of this gene is DSCAML1.

UniProtKB/Swiss-Prot for CNTN1 Gene

  • Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity).

Gene Wiki entry for CNTN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTN1 Gene

Genomics for CNTN1 Gene

Regulatory Elements for CNTN1 Gene

Promoters for CNTN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNTN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNTN1 Gene

Chromosome:
12
Start:
40,692,442 bp from pter
End:
41,072,418 bp from pter
Size:
379,977 bases
Orientation:
Plus strand

Genomic View for CNTN1 Gene

Genes around CNTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTN1 Gene

Proteins for CNTN1 Gene

  • Protein details for CNTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12860-CNTN1_HUMAN
    Recommended name:
    Contactin-1
    Protein Accession:
    Q12860
    Secondary Accessions:
    • A8K0H9
    • A8K0Y3
    • Q12861
    • Q14030
    • Q7M4P0
    • Q8N466

    Protein attributes for CNTN1 Gene

    Size:
    1018 amino acids
    Molecular mass:
    113320 Da
    Quaternary structure:
    • Monomer. Interacts with CNTNAP1 in cis form (By similarity). Binds to the carbonic-anhydrase like domain of PTPRZ1 (PubMed:20133774). Interacts with NOTCH1 and TNR. Detected in a complex with NRCAM and PTPRB (By similarity).

    Three dimensional structures from OCA and Proteopedia for CNTN1 Gene

    Alternative splice isoforms for CNTN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTN1 Gene

Proteomics data for CNTN1 Gene at MOPED

Post-translational modifications for CNTN1 Gene

  • Glycosylation at Asn 208, Asn 258, Asn 338, Asn 457, Asn 473, Asn 494, Asn 521, Asn 591, and Asn 933
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CNTN1 Gene

Domains & Families for CNTN1 Gene

Suggested Antigen Peptide Sequences for CNTN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12860

UniProtKB/Swiss-Prot:

CNTN1_HUMAN :
  • Contains 4 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. Contactin family.
Domain:
  • Contains 4 fibronectin type-III domains.
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. Contactin family.
genes like me logo Genes that share domains with CNTN1: view

Function for CNTN1 Gene

Molecular function for CNTN1 Gene

GENATLAS Biochemistry:
contactin,neuronal cell adhesion molecule (Ig superfamily),involved in axon growth,isoforms 1,2
UniProtKB/Swiss-Prot Function:
Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity).
genes like me logo Genes that share phenotypes with CNTN1: view

Human Phenotype Ontology for CNTN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNTN1 Gene

MGI Knock Outs for CNTN1:

Animal Model Products

miRNA for CNTN1 Gene

miRTarBase miRNAs that target CNTN1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CNTN1 Gene

Localization for CNTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTN1 Gene

Isoform 1: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.
Isoform 2: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTN1 Gene COMPARTMENTS Subcellular localization image for CNTN1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane TAS 7959734
genes like me logo Genes that share ontologies with CNTN1: view

Pathways & Interactions for CNTN1 Gene

genes like me logo Genes that share pathways with CNTN1: view

Gene Ontology (GO) - Biological Process for CNTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0021549 cerebellum development IEA --
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with CNTN1: view

No data available for SIGNOR curated interactions for CNTN1 Gene

Drugs & Compounds for CNTN1 Gene

No Compound Related Data Available

Transcripts for CNTN1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CNTN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1: - -
SP2: -
SP3:

Relevant External Links for CNTN1 Gene

GeneLoc Exon Structure for
CNTN1
ECgene alternative splicing isoforms for
CNTN1

Expression for CNTN1 Gene

mRNA expression in normal human tissues for CNTN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTN1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.5), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Frontal Cortex (BA9) (x4.7).

Protein differential expression in normal tissues from HIPED for CNTN1 Gene

This gene is overexpressed in Frontal cortex (19.9), Brain (13.9), Fetal Brain (9.9), and Serum (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CNTN1 Gene



SOURCE GeneReport for Unigene cluster for CNTN1 Gene Hs.143434

mRNA Expression by UniProt/SwissProt for CNTN1 Gene

Q12860-CNTN1_HUMAN
Tissue specificity: Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.
genes like me logo Genes that share expression patterns with CNTN1: view

Protein tissue co-expression partners for CNTN1 Gene

Primer Products

In Situ Assay Products

Orthologs for CNTN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNTN1 35
  • 99.44 (n)
  • 99.9 (a)
CNTN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNTN1 36
  • 96 (a)
OneToOne
CNTN1 35
  • 92.08 (n)
  • 95.87 (a)
dog
(Canis familiaris)
Mammalia CNTN1 35
  • 92.36 (n)
  • 96.85 (a)
CNTN1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntn1 36
  • 95 (a)
OneToOne
Cntn1 16
Cntn1 35
  • 86.08 (n)
  • 95.38 (a)
oppossum
(Monodelphis domestica)
Mammalia CNTN1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTN1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntn1 35
  • 86.21 (n)
  • 95.28 (a)
chicken
(Gallus gallus)
Aves CNTN1 35
  • 76.31 (n)
  • 77.7 (a)
CNTN1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTN1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cntn1 35
  • 70.06 (n)
  • 70.95 (a)
zebrafish
(Danio rerio)
Actinopterygii cntn1b 36
  • 51 (a)
OneToOne
cntn1 35
cntn1a 35
  • 59.36 (n)
  • 58.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cont 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea C33F10.5a 37
  • 22 (a)
C33F10.5b 37
  • 23 (a)
Species with no ortholog for CNTN1:
  • 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)
  • wheat (Triticum aestivum)

Evolution for CNTN1 Gene

ENSEMBL:
Gene Tree for CNTN1 (if available)
TreeFam:
Gene Tree for CNTN1 (if available)

Paralogs for CNTN1 Gene

(6) SIMAP similar genes for CNTN1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CNTN1: view

Variants for CNTN1 Gene

Sequence variations from dbSNP and Humsavar for CNTN1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1056020 - 41,016,889(+) GCCTA(C/G)TAGCA reference, missense
VAR_035506 A colorectal cancer sample
rs11553341 - 41,020,388(+) TTCTG(A/G)GATAT reference, missense
rs185775 -- 41,068,594(+) GAACA(A/T)GAATG intron-variant
rs192852 -- 40,857,290(-) GTGAA(C/T)ACCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNTN1 Gene

Variant ID Type Subtype PubMed ID
nsv899033 CNV Loss 21882294
nsv832378 CNV Gain 17160897
nsv832379 CNV Gain 17160897
esv2751098 CNV Gain 17911159
nsv832380 CNV Loss 17160897
esv2745801 CNV Deletion 23290073
esv2671801 CNV Deletion 23128226
nsv52882 CNV Loss 16902084
nsv826345 CNV Loss 20364138
esv2745802 CNV Deletion 23290073
esv2745803 CNV Deletion 23290073
esv995948 CNV Deletion 20482838
nsv53030 CNV Loss 16902084
esv1359669 CNV Deletion 17803354
esv2498446 CNV Deletion 19546169
esv1920593 CNV Deletion 18987734
esv5231 CNV Deletion 18987735
esv2745804 CNV Deletion 23290073
esv997554 CNV Deletion 20482838
esv2665856 CNV Deletion 23128226
esv1616736 CNV Deletion 17803354
esv7063 CNV Loss 19470904
nsv524407 CNV Loss 19592680
nsv523801 CNV Loss 19592680
nsv826346 CNV Loss 20364138
nsv826347 CNV Loss 20364138
nsv832382 CNV Loss 17160897
esv2745805 CNV Deletion 23290073
esv1646892 CNV Deletion 17803354
esv1308804 CNV Deletion 17803354

Variation tolerance for CNTN1 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNTN1 Gene

HapMap Linkage Disequilibrium report
CNTN1
Human Gene Mutation Database (HGMD)
CNTN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTN1 Gene

Disorders for CNTN1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CNTN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, congenital, compton-north
  • compton-north congenital myopathy
congenital lethal myopathy, compton-north type
nemaline myopathy 10
  • nem10
demyelinating polyneuropathy
  • peripheral demyelinating neuropathy
congenital myopathy
  • myopathy congenital
- elite association - COSMIC cancer census association via MalaCards
Search CNTN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNTN1_HUMAN
  • Myopathy, congenital, Compton-North (MYPCN) [MIM:612540]: A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band. {ECO:0000269 PubMed:19026398}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNTN1

Genetic Association Database (GAD)
CNTN1
Human Genome Epidemiology (HuGE) Navigator
CNTN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTN1
genes like me logo Genes that share disorders with CNTN1: view

No data available for Genatlas for CNTN1 Gene

Publications for CNTN1 Gene

  1. Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. (PMID: 7959734) Berglund E.O. … Ranscht B. (Genomics 1994) 2 3 4 23 67
  2. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (PMID: 19026398) Compton A.G. … North K.N. (Am. J. Hum. Genet. 2008) 3 23
  3. Knockdown of contactin-1 expression suppresses invasion and metastasis of lung adenocarcinoma. (PMID: 16510572) Su J.L. … Kuo M.L. (Cancer Res. 2006) 3 23
  4. Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. (PMID: 8586965) Yoshihara Y. … Mori K. (J. Neurobiol. 1995) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for CNTN1 Gene

Sources for CNTN1 Gene

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