| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Caspase recruitment domain-containing protein 9
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| http://www.biopax.org/relea... |
CARD9_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
hCARD9
|
| http://www.biopax.org/relea... |
FUNCTION: Activates NF-kappa-B via BCL10. SUBUNIT: Self-associates. CARD9 and BCL10 bind to each other by CARD-CARD interaction. SUBCELLULAR LOCATION: Cytoplasm. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H257-1; Sequence=Displayed; Name=2; IsoId=Q9H257-2; Sequence=VSP_024392, VSP_024393; Note=No experimental confirmation available; Name=3; IsoId=Q9H257-3; Sequence=VSP_024390, VSP_024391; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; TISSUE SPECIFICITY: Highly expressed in spleen. Also detected in liver, placenta, lung, peripheral blood leukocytes and in brain. DISEASE: Defects in CARD9 are the cause of familial candidiasis type 2 (CANDF2) [MIM:212050]. Chronic mucocutaneous candidiasis is characterized by impaired clearance of fungal infections and results in colonization and infections of the mucosa or skin, predominantly with Candida albicans. CANDF2 is an autosomal recessive chronic mucocutaneous candidiasis. SIMILARITY: Contains 1 CARD domain. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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