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The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
CNTNAP1 (Contactin Associated Protein 1) is a Protein Coding gene. Diseases associated with CNTNAP1 include Lethal Congenital Contracture Syndrome 7 and Neuropathy, Congenital Hypomyelinating, 3. Among its related pathways are Neuroscience and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is CNTNAP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005070 | SH3/SH2 adaptor activity | TAS | -- |
GO:0005515 | protein binding | IPI | 17474147 |
GO:0017124 | SH3 domain binding | ISS | -- |
GO:0038023 | signaling receptor activity | TAS | 9118959 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005887 | integral component of plasma membrane | TAS | 9118959 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,ISS | -- |
GO:0030054 | cell junction | IEA | -- |
GO:0030424 | axon | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology |
.51
|
|
2 | L1CAM interactions | ||
3 | Neuroscience | ||
4 | Cell adhesion molecules (CAMs) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002175 | protein localization to paranode region of axon | IEA,ISS | -- |
GO:0007010 | cytoskeleton organization | IEA,ISS | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007165 | signal transduction | TAS | 9118959 |
GO:0009967 | positive regulation of signal transduction | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CNTNAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CNTNAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CNTNAP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cntnap1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cntnap1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CNTNAP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CNTNAP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CNTNAP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CNTNAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cntnap1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC566220 30 |
|
||
CNTNAP1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nrx-IV 31 |
|
OneToOne | |
Nrx 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | nlr-1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691418 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 42,679,933(+) | C/A | MISSENSE_VARIANT | |
692016 | Pathogenic: Lethal congenital contracture syndrome 7 | 42,692,636(+) | C/T | NONSENSE | |
692274 | Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita | 42,683,822(+) | C/G | NONSENSE | |
692275 | Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita | 42,690,789(+) | G/A | MISSENSE_VARIANT | |
712209 | Benign: not provided | 42,693,523(+) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1007587 | CNV | deletion | 20482838 |
esv33998 | OTHER | inversion | 15654335 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv833450 | CNV | loss | 17160897 |
nsv953899 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lethal congenital contracture syndrome 7 |
|
|
neuropathy, congenital hypomyelinating, 3 |
|
|
hypomyelination neuropathy-arthrogryposis syndrome |
|
|
distal arthrogryposis |
|
|
arthrogryposis, distal, type 1a |
|
|