Human Gene CARD11 (uc003smv.3)
  Description: Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.
RefSeq Summary (NM_032415): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:2,945,710-3,083,509 Size: 137,800 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr7:2,946,272-2,998,140 Size: 51,869 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:2,945,710-3,083,509)mRNA (may differ from genome)Protein (1154 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAR11_HUMAN
DESCRIPTION: RecName: Full=Caspase recruitment domain-containing protein 11; AltName: Full=CARD-containing MAGUK protein 1; Short=Carma 1;
FUNCTION: Involved in the costimulatory signal essential for T- cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.
SUBUNIT: Found in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB. CARD11 and BCL10 bind to each other by CARD-CARD interaction. Interacts (via PDZ domain) with DPP4 (via cytoplasmic tail).
SUBCELLULAR LOCATION: Cytoplasm. Membrane raft. Note=Colocalized with DPP4 in membrane rafts.
TISSUE SPECIFICITY: Detected in adult peripheral blood leukocytes, thymus, spleen and liver. Also found in promyelocytic leukemia HL- 60 cells, chronic myelogenous leukemia K-562 cells, Burkitt's lymphoma Raji cells and colorectal adenocarcinoma SW480 cells. Not detected in HeLaS3, MOLT-4, A-549 and G431 cells.
PTM: Phosphorylation at Ser-559, Ser-644 and Ser-652 by PRKCB and PRKCQ leads to a shift from an inactive to an active form that activates the NF-kappa-B signaling (By similarity).
SIMILARITY: Contains 1 CARD domain.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
CAUTION: Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART.
SEQUENCE CAUTION: Sequence=AAG53402.1; Type=Erroneous initiation; Sequence=AAI11720.2; Type=Erroneous initiation; Sequence=AAQ96893.1; Type=Erroneous gene model prediction; Sequence=EAL23962.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CARD11
CDC HuGE Published Literature: CARD11
Positive Disease Associations: Blood Pressure , Fibrinogen
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Fibrinogen
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CARD11
Diseases sorted by gene-association score: b-cell expansion with nfkb and t-cell anergy* (1681), immunodeficiency 11a* (1350), immunodeficiency 11b with atopic dermatitis* (900), benta disease* (400), persistent polyclonal b-cell lymphocytosis* (25), lymphoma, malt, somatic (9), diffuse large b-cell lymphoma (7), omenn syndrome (6), b-cell lymphomas (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.69 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 108.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -158.30334-0.474 Picture PostScript Text
3' UTR -247.41562-0.440 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001315 - CARD
IPR011029 - DEATH-like
IPR001478 - PDZ

Pfam Domains:
PF00619 - Caspase recruitment domain

SCOP Domains:
47986 - DEATH domain
50156 - PDZ domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q9BXL7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004385 guanylate kinase activity
GO:0005515 protein binding
GO:0050700 CARD domain binding

Biological Process:
GO:0001819 positive regulation of cytokine production
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0002377 immunoglobulin production
GO:0007165 signal transduction
GO:0007249 I-kappaB kinase/NF-kappaB signaling
GO:0030183 B cell differentiation
GO:0030890 positive regulation of B cell proliferation
GO:0031295 T cell costimulation
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0038202 TORC1 signaling
GO:0042100 B cell proliferation
GO:0042102 positive regulation of T cell proliferation
GO:0042110 T cell activation
GO:0042981 regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045061 thymic T cell selection
GO:0045086 positive regulation of interleukin-2 biosynthetic process
GO:0045577 regulation of B cell differentiation
GO:0045580 regulation of T cell differentiation
GO:0046037 GMP metabolic process
GO:0046649 lymphocyte activation
GO:0046710 GDP metabolic process
GO:0048872 homeostasis of number of cells
GO:0050776 regulation of immune response
GO:0050852 T cell receptor signaling pathway
GO:0050870 positive regulation of T cell activation
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0070970 interleukin-2 secretion

Cellular Component:
GO:0001772 immunological synapse
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0032449 CBM complex
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:0042101 T cell receptor complex


-  Descriptions from all associated GenBank mRNAs
  AF322641 - Homo sapiens caspase recruitment domain protein 11 mRNA, complete cds.
AK074049 - Homo sapiens mRNA for FLJ00120 protein.
AF352576 - Homo sapiens CARD-containing MAGUK protein CARMA1 mRNA, complete cds.
JD438104 - Sequence 419128 from Patent EP1572962.
JD125152 - Sequence 106176 from Patent EP1572962.
JD313789 - Sequence 294813 from Patent EP1572962.
JD530981 - Sequence 512005 from Patent EP1572962.
JD501149 - Sequence 482173 from Patent EP1572962.
BC111719 - Homo sapiens caspase recruitment domain family, member 11, mRNA (cDNA clone MGC:133069 IMAGE:40009168), complete cds.
JD188782 - Sequence 169806 from Patent EP1572962.
JD383629 - Sequence 364653 from Patent EP1572962.
JD068773 - Sequence 49797 from Patent EP1572962.
JD383054 - Sequence 364078 from Patent EP1572962.
JD383053 - Sequence 364077 from Patent EP1572962.
JD121361 - Sequence 102385 from Patent EP1572962.
JD484231 - Sequence 465255 from Patent EP1572962.
JD366077 - Sequence 347101 from Patent EP1572962.
JD074527 - Sequence 55551 from Patent EP1572962.
AB527123 - Synthetic construct DNA, clone: pF1KF0120, Homo sapiens CARD11 gene for caspase recruitment domain family, member 11, without stop codon, in Flexi system.
AK098010 - Homo sapiens cDNA FLJ40691 fis, clone THYMU2024684.
AK056847 - Homo sapiens cDNA FLJ32285 fis, clone PROST2000267.
AK097139 - Homo sapiens cDNA FLJ39820 fis, clone SPLEN2010625.
JD478159 - Sequence 459183 from Patent EP1572962.
JD545953 - Sequence 526977 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04660 - T cell receptor signaling pathway
hsa04662 - B cell receptor signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9BXL7 (Reactome details) participates in the following event(s):

R-HSA-202394 Translocation of CARMA1 to Plasma membrane
R-HSA-202443 Oligomerization of CARMA1
R-HSA-2730863 Phosphorylation of CARMA1 by PKC-theta
R-HSA-202437 Phosphorylation of CARMA1
R-HSA-202466 Interaction of Bcl10 to CARMA1
R-HSA-1168644 CARMA1 recruits MALT1 and BCL10 forming CBM Complex
R-HSA-202459 Phosphorylation of Bcl10
R-HSA-202478 Interaction and oligomerization of MALT1 to Bcl10
R-HSA-202489 Oligomerization of Bcl10
R-HSA-202472 Translocation of TRAF6 to CBM complex
R-HSA-1168641 TAK1 associated with the CBM complex phosphorylates IKKbeta
R-HSA-202510 Activation of TAK1-TAB2 complex
R-HSA-202453 Auto-ubiquitination of TRAF6
R-HSA-202500 Activation of IKK complex
R-HSA-202424 Downstream TCR signaling
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-1169091 Activation of NF-kappaB in B cells
R-HSA-202403 TCR signaling
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR)
R-HSA-1280218 Adaptive Immune System
R-HSA-168249 Innate Immune System
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-168256 Immune System
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-5621481 C-type lectin receptors (CLRs)

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1Z7, CAR11_HUMAN, CARMA1, NM_032415, NP_115791, Q2NKN7, Q548H3, Q9BXL7
UCSC ID: uc003smv.3
RefSeq Accession: NM_032415
Protein: Q9BXL7 (aka CAR11_HUMAN or CARB_HUMAN)
CCDS: CCDS5336.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032415.4
exon count: 25CDS single in 3' UTR: no RNA size: 4362
ORF size: 3465CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6784.00frame shift in genome: no % Coverage: 99.98
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.