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

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: mouse all
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Genomic context

Location:: 7p22.2

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (2906142..3043867, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (3019747..3157416, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (2945776..3083501, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CARD11 regulates the thymic Treg development in an NF-kappaB-independent manner.
Title: CARD11 regulates the thymic Treg development in an NF-κB-independent manner.
CARD11 gain of function upregulates BCL2A1 expression and promotes resistance to targeted therapies combination in B-cell lymphoma.
Title: CARD11 gain of function upregulates BCL2A1 expression and promotes resistance to targeted therapies combination in B-cell lymphoma.
DOK3 promotes atopic dermatitis by enabling the phosphatase PP4C to inhibit the T cell signaling mediator CARD11.
Title: DOK3 promotes atopic dermatitis by enabling the phosphatase PP4C to inhibit the T cell signaling mediator CARD11.
A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family.
Title: A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family.
CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.
Title: CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11).
Title: Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11).
Elevated IgE from attenuated CARD11 signaling: lessons from atopic mice and humans.
Title: Elevated IgE from attenuated CARD11 signaling: lessons from atopic mice and humans.
A familial case of B-cell expansion with NF-kappaB and T-cell anergy caused by a G123D heterozygous missense mutation in the CARD11 gene.
Title: A familial case of B-cell expansion with NF-κB and T-cell anergy caused by a G123D heterozygous missense mutation in the CARD11 gene.
CARMA1 is required for Notch1-induced NF-kappaB activation in SIL-TAL1-negative T cell acute lymphoblastic leukemia.
Title: CARMA1 is required for Notch1-induced NF-κB activation in SIL-TAL1-negative T cell acute lymphoblastic leukemia.
CARD11 is a novel target of miR-181b that is upregulated in chronic lymphocytic leukemia.
Title: CARD11 is a novel target of miR-181b that is upregulated in chronic lymphocytic leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH65749 (e-PCR)
- UniSTS:57870

D7S2484 (e-PCR), detects polymorphism
- UniSTS:27754

D7S2484 (e-PCR), detects polymorphism
- UniSTS:76907

G09444 (e-PCR)
- UniSTS:27082

GDB:1318525 (e-PCR)
- UniSTS:10725

CARD11_3630 (e-PCR)
- UniSTS:462078

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IBA Inferred from Biological aspect of Ancestor more info
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
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 more info	PubMed
is_active_in immunological synapse	IBA Inferred from Biological aspect of Ancestor more info
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

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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

NG_027759.1 RefSeqGene

Range

5009..142734

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_729

mRNA and Protein(s)

NM_001324281.3 → NP_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:680 → 752

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:22 → 107

CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins

cd16269
Location:387 → 398

GBP_C; coiled coil [structural motif]

cl12013
Location:173 → 257

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl17036
Location:777 → 839

SH3; Src Homology 3 domain superfamily

cl17190
Location:1009 → 1143

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:252 → 418

GBP_C; Guanylate-binding protein, C-terminal domain
NM_032415.7 → NP_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:680 → 752

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:22 → 107

CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins

cd16269
Location:387 → 398

GBP_C; coiled coil [structural motif]

cl12013
Location:173 → 257

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl17036
Location:777 → 839

SH3; Src Homology 3 domain superfamily

cl17190
Location:1009 → 1143

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:252 → 418

GBP_C; Guanylate-binding protein, C-terminal domain