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

Gene ID: 84433, updated on 23-Nov-2023

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
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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 
enables protein self-association IDA
Inferred from Direct Assay
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)

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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)