Description: Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. RefSeq Summary (NM_024110): This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. Transcript (Including UTRs) Position: hg19 chr17:78,152,307-78,183,130 Size: 30,824 Total Exon Count: 21 Strand: + Coding Region Position: hg19 chr17:78,155,238-78,182,144 Size: 26,907 Coding Exon Count: 20
ID:CAR14_HUMAN DESCRIPTION: RecName: Full=Caspase recruitment domain-containing protein 14; AltName: Full=CARD-containing MAGUK protein 2; Short=Carma 2; FUNCTION: Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. SUBUNIT: CARD14 and BCL10 bind to each other by CARD-CARD interaction. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expressed in placenta. Also detected in HeLaS3 cell line, but not in the other cancer cell lines tested. Expressed in epidermal keratinocytes. DISEASE: Defects in CARD14 are the cause of susceptibility to psoriasis type 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. DISEASE: Defects in CARD14 are the cause of 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. SIMILARITY: Contains 1 CARD domain. SIMILARITY: Contains 1 guanylate kinase-like domain. SIMILARITY: Contains 1 PDZ (DHR) domain. CAUTION: Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART. SEQUENCE CAUTION: Sequence=AAH01326.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Caspase recruitment domain family, member 14 (CARD14); Note=Leiden Open Variation Database (LOVD); URL="http://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=CARD14";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BXL6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001934 positive regulation of protein phosphorylation GO:0006915 apoptotic process GO:0007250 activation of NF-kappaB-inducing kinase activity GO:0033209 tumor necrosis factor-mediated signaling pathway GO:0042981 regulation of apoptotic process GO:0043066 negative regulation of apoptotic process GO:0051092 positive regulation of NF-kappaB transcription factor activity
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