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CTNNAL1 (Catenin Alpha Like 1) is a Protein Coding gene. Diseases associated with CTNNAL1 include Perrault Syndrome and Hirschsprung Disease 1. Among its related pathways are Toll-like Receptor Signaling Pathway. Gene Ontology (GO) annotations related to this gene include structural molecule activity and cadherin binding. An important paralog of this gene is CTNNA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21115837 |
GO:0045296 | cadherin binding | IEA | -- |
GO:0051015 | actin filament binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | 12270917 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Toll-like Receptor Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0007266 | Rho protein signal transduction | IEA,IDA | 12270917 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CTNNAL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CTNNAL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CTNNAL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ctnnal1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ctnnal1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CTNNAL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CTNNAL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CTNNAL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CTNNAL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ctnnal1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11519 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ctnnal1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011097 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | alpha-catenin-related 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | ctn-1 30 31 32 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
731107 | Likely Benign: not provided | 108,999,189(-) | C/T | MISSENSE_VARIANT | |
776438 | Benign: not provided | 108,972,751(-) | G/C | MISSENSE_VARIANT | |
780822 | Benign: not provided | 108,972,840(-) | ATG/A | INTRON_VARIANT | |
rs16913734 | - | p.Thr424Ser | |||
rs28361109 | - | p.Asn91Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2676852 | CNV | deletion | 23128226 |
esv3621426 | CNV | loss | 21293372 |
nsv1141020 | CNV | deletion | 24896259 |
nsv475684 | CNV | novel sequence insertion | 20440878 |
nsv6660 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
perrault syndrome |
|
|
hirschsprung disease 1 |
|
|