sujigwak/NVAR huggingface dataset:
UniProt ID: O95999
Variant: K -> Q at position 45-45
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: T -> I at position 52-52
Variant annotation: found in a mesothelioma sample; uncertain significance
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: C -> R at position 57-57
Variant annotation: found in a MALT lymphoma sample; uncertain significance
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: R -> G at position 58-58
Variant annotation: found in a germ cell tumor sample; uncertain significance; dbSNP:rs121918314
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: R -> Q at position 58-58
Variant annotation: in dbSNP:rs2100747931
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: R -> K at position 64-64
Variant annotation: found in a MALT lymphoma sample; uncertain significance
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: N -> S at position 93-93
Variant annotation: in dbSNP:rs1660347136
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: D -> E at position 101-101
Variant annotation: found in a MALT lymphoma sample; uncertain significance
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: S -> P at position 134-134
Variant annotation: found in a MALT lymphoma sample; uncertain significance
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: M -> V at position 153-153
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: T -> M at position 162-162
Variant annotation: found in a testicular teratoma sample; somatic mutation; dbSNP:rs200837308
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: T -> A at position 168-168
Variant annotation: found in a MALT lymphoma sample; uncertain significance; dbSNP:rs1384278393
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: L -> S at position 174-174
Variant annotation: found in a MALT lymphoma sample; uncertain significance
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: G -> E at position 213-213
Variant annotation: found in a MALT lymphoma sample; uncertain significance; dbSNP:rs3768235
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
UniProt ID: O95999
Variant: S -> F at position 218-218
Variant annotation: found in a germ cell tumor and other cancer cell lines; uncertain significance
Protein function: Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation . 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 . 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 . 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 . Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity . Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) . Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK .
Reference sequence:
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ