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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
p22.2
Chromosome location (bp)
2906142 - 3044228
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement 1,2,3. Transduces signals downstream TCR or BCR activation via the formation of a multiprotein complex together with BCL10 and MALT1 that induces NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways 4. Upon activation in response to TCR or BCR triggering, CARD11 homooligomerizes to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10 and subsequent recruitment of MALT1: this leads to I-kappa-B kinase (IKK) phosphorylation and degradation, and release of NF-kappa-B proteins for nuclear translocation 5. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner 6. Promotes linear ubiquitination of BCL10 by promoting the targeting of BCL10 to RNF31/HOIP 7. Stimulates the phosphorylation of BCL10 8. Also activates the TORC1 signaling pathway 9....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
H7BY05 [Direct mapping] Caspase recruitment domain-containing protein 11
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0051092[positive regulation of NF-kappaB transcription factor activity]
E2QRC0 [Direct mapping] Caspase recruitment domain-containing protein 11
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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GO:0042981[regulation of apoptotic process] GO:0051092[positive regulation of NF-kappaB transcription factor activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001772[immunological synapse] GO:0002376[immune system process] GO:0004385[guanylate kinase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0007165[signal transduction] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0016020[membrane] GO:0030183[B cell differentiation] GO:0030890[positive regulation of B cell proliferation] GO:0031295[T cell costimulation] GO:0032449[CBM complex] GO:0032743[positive regulation of interleukin-2 production] GO:0035739[CD4-positive, alpha-beta T cell proliferation] GO:0038202[TORC1 signaling] GO:0042100[B cell proliferation] GO:0042110[T cell activation] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043621[protein self-association] GO:0045061[thymic T cell selection] GO:0045121[membrane raft] GO:0045577[regulation of B cell differentiation] GO:0045580[regulation of T cell differentiation] GO:0046037[GMP metabolic process] GO:0046649[lymphocyte activation] GO:0046710[GDP metabolic process] GO:0048872[homeostasis of number of cells] GO:0050700[CARD domain binding] GO:0050776[regulation of immune response] GO:0050862[positive regulation of T cell receptor signaling pathway] GO:0050870[positive regulation of T cell activation] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051260[protein homooligomerization] GO:0070062[extracellular exosome] GO:2000563[positive regulation of CD4-positive, alpha-beta T cell proliferation]
The Human Protein Atlas project is funded
