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    CARD11 caspase recruitment domain family member 11 [ Homo sapiens (human) ]

    Gene ID: 84433, updated on 17-Jun-2024

    Summary

    Official Symbol
    CARD11provided by HGNC
    Official Full Name
    caspase recruitment domain family member 11provided by HGNC
    Primary source
    HGNC:HGNC:16393
    See related
    Ensembl:ENSG00000198286 MIM:607210; AllianceGenome:HGNC:16393
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PPBL; BENTA; BIMP3; IMD11; CARMA1; IMD11A
    Summary
    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]
    Expression
    Biased expression in lymph node (RPKM 19.0), spleen (RPKM 15.1) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CARD11 in Genome Data Viewer
    Location:
    7p22.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2906142..3043867, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (3019747..3157416, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2945776..3083501, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2720455-2720960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2749197-2749892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25549 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2752776-2752975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25550 Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2773373-2774360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2801665-2802194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2802725-2803253 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2811080-2811224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25552 Neighboring gene G protein subunit alpha 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2847552-2848409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2848410-2849266 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2853274-2853476 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:2860641-2861330 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2861331-2862020 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2864095-2864737 Neighboring gene prefoldin subunit 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2883249-2884066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25554 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2896347-2896847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2902048-2902694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17888 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2909080-2909284 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2910232-2910451 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2911258-2911909 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2913741-2914321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2936507-2937008 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2940368-2940617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2952618-2953118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2953119-2953619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2962703-2963419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2977052-2977948 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2978852-2979043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17890 Neighboring gene CARD11 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:3007255-3007437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:3019101-3019832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:3019833-3020562 Neighboring gene RN7SK pseudogene 130 Neighboring gene Sharpr-MPRA regulatory region 4127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25559 Neighboring gene uncharacterized LOC105375130 Neighboring gene uncharacterized LOC100129603

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    BENTA disease
    MedGen: C4551967 OMIM: 616452 GeneReviews: Not available
    Compare labs
    Immunodeficiency 11b with atopic dermatitis
    MedGen: C4539957 OMIM: 617638 GeneReviews: Not available
    Compare labs
    Severe combined immunodeficiency due to CARD11 deficiency
    MedGen: C3554686 OMIM: 615206 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC133069

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CARD domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables guanylate kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in CD4-positive, alpha-beta T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GDP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell costimulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of CD4-positive, alpha-beta T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of CBM complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in immunological synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    caspase recruitment domain-containing protein 11
    Names
    CARD-containing MAGUK protein 1
    bcl10-interacting maguk protein 3
    carma 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027759.1 RefSeqGene

      Range
      5009..142734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_729

    mRNA and Protein(s)

    1. NM_001324281.3NP_001311210.1  caspase recruitment domain-containing protein 11

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC004906, AC092689, CR975176, HY086990
      Consensus CDS
      CCDS5336.2
      UniProtKB/Swiss-Prot
      A4D1Z7, Q2NKN7, Q548H3, Q9BXL7
      UniProtKB/TrEMBL
      Q8TES3
      Conserved Domains (7) summary
      cd00992
      Location:680752
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd08808
      Location:22107
      CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins
      cd16269
      Location:387398
      GBP_C; coiled coil [structural motif]
      cl12013
      Location:173257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:777839
      SH3; Src Homology 3 domain superfamily
      cl17190
      Location:10091143
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
      cl20817
      Location:252418
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. NM_032415.7NP_115791.3  caspase recruitment domain-containing protein 11

      See identical proteins and their annotated locations for NP_115791.3

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA594170, AK074049, HY086990
      Consensus CDS
      CCDS5336.2
      UniProtKB/Swiss-Prot
      A4D1Z7, Q2NKN7, Q548H3, Q9BXL7
      UniProtKB/TrEMBL
      Q8TES3
      Related
      ENSP00000380150.4, ENST00000396946.9
      Conserved Domains (7) summary
      cd00992
      Location:680752
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd08808
      Location:22107
      CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins
      cd16269
      Location:387398
      GBP_C; coiled coil [structural motif]
      cl12013
      Location:173257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:777839
      SH3; Src Homology 3 domain superfamily
      cl17190
      Location:10091143
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
      cl20817
      Location:252418
      GBP_C; Guanylate-binding protein, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      2906142..3043867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      3019747..3157416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)