CARD11

Protein identityUniProt · HPA

UniProt accession

Q9BXL7

Gene

CARD11

Ensembl

ENSG00000198286

Chromosome

7

Canonical length

1154 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1154 residues, UniProt reviewed canonical sequence.

>Q9BXL7|CARD11
     1  MPGGGPEMDD YMETLKDEED ALWENVECNR HMLSRYINPA KLTPYLRQCK VIDEQDEDEV
    61  LNAPMLPSKI NRAGRLLDIL HTKGQRGYVV FLESLEFYYP ELYKLVTGKE PTRRFSTIVV
   121  EEGHEGLTHF LMNEVIKLQQ QMKAKDLQRC ELLARLRQLE DEKKQMTLTR VELLTFQERY
   181  YKMKEERDSY NDELVKVKDD NYNLAMRYAQ LSEEKNMAVM RSRDLQLEID QLKHRLNKME
   241  EECKLERNQS LKLKNDIENR PKKEQVLELE RENEMLKTKN QELQSIIQAG KRSLPDSDKA
   301  ILDILEHDRK EALEDRQELV NRIYNLQEEA RQAEELRDKY LEEKEDLELK CSTLGKDCEM
   361  YKHRMNTVML QLEEVERERD QAFHSRDEAQ TQYSQCLIEK DKYRKQIREL EEKNDEMRIE
   421  MVRREACIVN LESKLRRLSK DSNNLDQSLP RNLPVTIISQ DFGDASPRTN GQEADDSSTS
   481  EESPEDSKYF LPYHPPQRRM NLKGIQLQRA KSPISLKRTS DFQAKGHEEE GTDASPSSCG
   541  SLPITNSFTK MQPPRSRSSI MSITAEPPGN DSIVRRYKED APHRSTVEED NDSGGFDALD
   601  LDDDSHERYS FGPSSIHSSS SSHQSEGLDA YDLEQVNLMF RKFSLERPFR PSVTSVGHVR
   661  GPGPSVQHTT LNGDSLTSQL TLLGGNARGS FVHSVKPGSL AEKAGLREGH QLLLLEGCIR
   721  GERQSVPLDT CTKEEAHWTI QRCSGPVTLH YKVNHEGYRK LVKDMEDGLI TSGDSFYIRL
   781  NLNISSQLDA CTMSLKCDDV VHVRDTMYQD RHEWLCARVD PFTDHDLDMG TIPSYSRAQQ
   841  LLLVKLQRLM HRGSREEVDG THHTLRALRN TLQPEEALST SDPRVSPRLS RASFLFGQLL
   901  QFVSRSENKY KRMNSNERVR IISGSPLGSL ARSSLDATKL LTEKQEELDP ESELGKNLSL
   961  IPYSLVRAFY CERRRPVLFT PTVLAKTLVQ RLLNSGGAME FTICKSDIVT RDEFLRRQKT
  1021  ETIIYSREKN PNAFECIAPA NIEAVAAKNK HCLLEAGIGC TRDLIKSNIY PIVLFIRVCE
  1081  KNIKRFRKLL PRPETEEEFL RVCRLKEKEL EALPCLYATV EPDMWGSVEE LLRVVKDKIG
  1141  EEQRKTIWVD EDQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CARD11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

38 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CARD11.

Disease | AllUniProt

Conditions CARD11 is implicated in, by any mechanism.

• B-cell expansion with NFKB and T-cell anergy (BENTA) MIM:616452
• Immunodeficiency 11 A (IMD11A) MIM:615206
• Immunodeficiency 11B with atopic dermatitis (IMD11B) MIM:617638

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 1,351 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• BENTA disease
• Severe combined immunodeficiency due to CARD11 deficiency
• Immunodeficiency 11b with atopic dermatitis
• Splenomegaly
• Osteopenia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

1

gnomAD missense Z

3.54

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell differentiation
• B cell proliferation
• canonical NF-kappaB signal transduction
• CD4-positive, alpha-beta T cell proliferation
• homeostasis of number of cells
• positive regulation of B cell proliferation
• positive regulation of canonical NF-kappaB signal transduction
• positive regulation of CD4-positive, alpha-beta T cell proliferation
• positive regulation of interleukin-2 production
• positive regulation of NF-kappaB transcription factor activity
• positive regulation of T cell receptor signaling pathway
• protein homooligomerization
• regulation of apoptotic process
• regulation of B cell differentiation
• regulation of T cell differentiation
• T cell costimulation
• thymic T cell selection
• TORC1 signaling

Molecular functions

• CARD domain binding
• GMP kinase activity

Cellular components

• CBM complex
• cytoplasm
• cytosol
• extracellular exosome
• immunological synapse
• membrane raft
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• CARD domain
• Death-like domain superfamily
• P-loop containing nucleoside triphosphate hydrolase
• PDZ superfamily
• Caspase recruitment domain
• CARD11, CARD domain

KeywordsUniProt

• Coiled coil
• Cytoplasm
• Disulfide bond
• Immunity
• Isopeptide bond
• Membrane
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of CARD11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BCL10
• RNF31
• CSNK1A1
• MALT1