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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]
CNTN1 (Contactin 1) is a Protein Coding gene. Diseases associated with CNTN1 include Myopathy, Congenital, Compton-North and Myopathy, Congenital. Among its related pathways are Signaling by GPCR and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is CNTN5.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J040692 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE CraniofacialAtlas | 682.8 | +0.6 | 571 | 2.4 | SP1 PRDM1 ZIC2 PKNOX1 POLR2A EZH2 ZNF600 ZNF341 SCRT2 ZBTB44 | CNTN1 LOC100420117 PDZRN4 | |
GH12J040827 | Promoter/Enhancer | 0.9 | EPDnew Ensembl | 600.1 | +135.9 | 135872 | 1.4 | ZNF629 PRDM1 ZIC2 POLR2A ZNF341 SCRT2 MAFF MAFK ZNF423 ZNF610 | lnc-MUC19-5 CNTN1 PDZRN4 ENSG00000274682 | |
GH12J040697 | Enhancer | 0.8 | Ensembl ENCODE | 82.6 | +5.6 | 5572 | 1.2 | ZNF600 CEBPB SP1 JUND ZSCAN5C OSR2 ZBTB17 WT1 FOSL2 SIN3A | CNTN1 LOC100420117 PDZRN4 | |
GH12J040734 | Enhancer | 0.3 | Ensembl | 40 | +42.9 | 42872 | 1.8 | ZNF189 FEZF1 | CNTN1 ENSG00000257680 lnc-MUC19-3 piR-60246-038 PDZRN4 | |
GH12J040759 | Enhancer | 0.3 | dbSUPER | 24.3 | +69.5 | 69514 | 5.8 | CTCF GATA2 | CNTN1 piR-60246-038 lnc-MUC19-3 ENSG00000257680 PDZRN4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21969550 |
GO:0030246 | carbohydrate binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | TAS | 7959734 |
GO:0031225 | anchored component of membrane | IEA | -- |
GO:0045121 | membrane raft | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | Developmental Biology |
.51
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4 | L1CAM interactions | ||
5 | Signaling by NOTCH1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | NAS,IEA | -- |
GO:0007219 | Notch signaling pathway | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0010628 | positive regulation of gene expression | IEA | -- |
GO:0010765 | positive regulation of sodium ion transport | IEA | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CNTN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CNTN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CNTN1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CNTN1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cntn1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cntn1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CNTN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CNTN1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CNTN1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cntn1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cntn1a 30 |
|
||
cntn1b 31 |
|
OneToOne | |||
cntn1 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cont 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | C33F10.5b 32 |
|
|
|
C33F10.5a 32 |
|
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640567 | Uncertain Significance: Myopathy, congenital, compton-north | 40,944,027(+) | G/A | MISSENSE_VARIANT | |
641061 | Uncertain Significance: Myopathy, congenital, compton-north | 40,980,940(+) | A/G | MISSENSE_VARIANT | |
643635 | Uncertain Significance: Myopathy, congenital, compton-north | 40,918,762(+) | C/T | MISSENSE_VARIANT | |
645568 | Uncertain Significance: Myopathy, congenital, compton-north | 40,922,293(+) | G/A | MISSENSE_VARIANT | |
650397 | Uncertain Significance: Myopathy, congenital, compton-north | 40,933,490(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, congenital, compton-north |
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myopathy, congenital |
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demyelinating polyneuropathy |
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myopathy |
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generalized epilepsy with febrile seizures plus, type 9 |
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