Homo sapiens Protein: CARD14 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-761832.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CARD14 | ||||||||||||||||||
Protein Name | |||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000458715 | ||||||||||||||||||
InnateDB Gene | IDBG-71483 (CARD14) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Plays a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. {ECO:0000269PubMed:21302310}. | ||||||||||||||||||
Subcellular Localization | Isoform 1: Cytoplasm.Isoform 2: Cytoplasm.Isoform 3: Cytoplasm. | ||||||||||||||||||
Disease Associations | Psoriasis 2 (PSORS2) [MIM:602723]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. {ECO:0000269PubMed:22521418, ECO:0000269PubMed:22521419}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Pityriasis rubra pilaris (PRP) [MIM:173200]: A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema. {ECO:0000269PubMed:22703878}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Isoform 1 is detected in placenta and epidermal keratinocytes. Isoform 2 is detected in leukocytes and fetal brain. {ECO:0000269PubMed:22521418}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001315
CARD domain IPR001478 PDZ domain IPR008144 Guanylate kinase-like IPR011029 Death-like domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00619
PF00595 PF13180 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00114
SM00228 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9BXL6 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9BXL6 | ||||||||||||||||||
TrEMBL | I3L4Q8 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 79092 | ||||||||||||||||||
UniGene | Hs.739340 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:16446 | ||||||||||||||||||
OMIM | 607211 | ||||||||||||||||||
CCDS | CCDS11768 | ||||||||||||||||||
HPRD | 06235 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC087741 AF322642 AY032927 BC001326 BC018142 EU652409 | ||||||||||||||||||
GenPept | AAG53403 AAH01326 AAH18142 AAK54453 ACF49506 | ||||||||||||||||||