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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
1
Cytoband
p22.3
Chromosome location (bp)
85265776 - 85276632
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation 1,2,3,4,5. Acts by channeling adaptive and innate immune signaling downstream of CARD domain-containing proteins CARD9, CARD11 and CARD14 to activate NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines 6. Recruited by activated CARD domain-containing proteins: homooligomerized CARD domain-containing proteins form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10, subsequent recruitment of MALT1 and formation of a CBM complex 7. This leads to activation of NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines 8,9,10. Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity 11. Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) 12,13,14,15. Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK 16....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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GO:0006915[apoptotic process] 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 COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes 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:0001783[B cell apoptotic process] GO:0001819[positive regulation of cytokine production] GO:0001843[neural tube closure] GO:0002020[protease binding] GO:0002096[polkadots] GO:0002224[toll-like receptor signaling pathway] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002906[negative regulation of mature B cell apoptotic process] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005829[cytosol] GO:0005881[cytoplasmic microtubule] GO:0006915[apoptotic process] GO:0006968[cellular defense response] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0008022[protein C-terminus binding] GO:0008219[cell death] GO:0009620[response to fungus] GO:0016020[membrane] GO:0016064[immunoglobulin mediated immune response] GO:0019209[kinase activator activity] GO:0019899[enzyme binding] GO:0019900[kinase binding] GO:0019901[protein kinase binding] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0031663[lipopolysaccharide-mediated signaling pathway] GO:0032094[response to food] GO:0032449[CBM complex] GO:0032755[positive regulation of interleukin-6 production] GO:0032757[positive regulation of interleukin-8 production] GO:0032761[positive regulation of lymphotoxin A production] GO:0032765[positive regulation of mast cell cytokine production] GO:0032991[protein-containing complex] GO:0042327[positive regulation of phosphorylation] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043422[protein kinase B binding] GO:0043621[protein self-association] GO:0044877[protein-containing complex binding] GO:0045087[innate immune response] GO:0045121[membrane raft] GO:0045893[positive regulation of DNA-templated transcription] GO:0048471[perinuclear region of cytoplasm] GO:0050700[CARD domain binding] GO:0050852[T cell receptor signaling pathway] GO:0050856[regulation of T cell receptor signaling pathway] GO:0050862[positive regulation of T cell receptor signaling pathway] GO:0050870[positive regulation of T cell activation] GO:0051059[NF-kappaB binding] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051260[protein homooligomerization] GO:0061760[antifungal innate immune response] GO:0070231[T cell apoptotic process] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0140296[general transcription initiation factor binding] GO:2001238[positive regulation of extrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
