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UniProtKB - Q9BXL7 (CAR11_HUMAN)

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Protein

Caspase recruitment domain-containing protein 11

Gene

CARD11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. Also activates the TORC1 signaling pathway.4 Publications

Caution

Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART.Curated

GO - Molecular functioni

  • CARD domain binding Source: UniProtKB
  • guanylate kinase activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-HSA-1169091 Activation of NF-kappaB in B cells
R-HSA-202424 Downstream TCR signaling
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-5607764 CLEC7A (Dectin-1) signaling
SignaLinkiQ9BXL7
SIGNORiQ9BXL7

Names & Taxonomyi

Protein namesi
Recommended name:
Caspase recruitment domain-containing protein 11
Alternative name(s):
CARD-containing MAGUK protein 1
Short name:
Carma 1
Gene namesi
Name:CARD11
Synonyms:CARMA11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000198286.9
HGNCiHGNC:16393 CARD11
MIMi607210 gene
neXtProtiNX_Q9BXL7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

B-cell expansion with NFKB and T-cell anergy (BENTA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy.
See also OMIM:616452
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069710123G → S in BENTA; results in protein aggregation; constitutive activation of NF-kappaB signaling. 1 PublicationCorresponds to variant dbSNP:rs387907352EnsemblClinVar.1
Natural variantiVAR_069711134E → G in BENTA; results in protein aggregation; constitutive activation of NF-kappaB signaling. 2 PublicationsCorresponds to variant dbSNP:rs387907351EnsemblClinVar.1
Immunodeficiency 11 A (IMD11A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function.
See also OMIM:615206
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079158945 – 1154Missing in IMD11A; results in defective NF-kappa-B activation. 1 PublicationAdd BLAST210
Immunodeficiency 11B with atopic dermatitis (IMD11B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia.
See also OMIM:617638
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07928457E → D in IMD11B; no effect on protein abundance; decreased interaction with BCL10; dominant negative effect on NF-kappaB signaling; dominant negative effect on TORC1 signaling. 1 Publication1
Natural variantiVAR_079285194L → P in IMD11B; no effect on protein abundance; decreased interaction with BCL10; dominant negative effect on NF-kappaB signaling; dominant negative effect on TORC1 signaling. 1 Publication1
Natural variantiVAR_079286975R → W in IMD11B; no effect on protein abundance; dominant negative effect on NF-kappaB signaling; dominant negative effect on TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs1064795307Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84433
MalaCardsiCARD11
MIMi615206 phenotype
616452 phenotype
617638 phenotype
OpenTargetsiENSG00000198286
Orphaneti300324 Persistent polyclonal B-cell lymphocytosis
357237 Severe combined immunodeficiency due to CARD11 deficiency
PharmGKBiPA26073

Polymorphism and mutation databases

BioMutaiCARD11
DMDMi172046231

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001440861 – 1154Caspase recruitment domain-containing protein 11Add BLAST1154

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei448PhosphoserineCombined sources1
Modified residuei466PhosphoserineCombined sources1
Modified residuei512PhosphoserineCombined sources1
Modified residuei535PhosphoserineCombined sources1
Modified residuei559Phosphoserine; by PKC/PRKCB and PKC/PRKCQBy similarity1
Modified residuei593PhosphoserineCombined sources1
Modified residuei644Phosphoserine; by PKC/PRKCB and PKC/PRKCQBy similarity1
Modified residuei652Phosphoserine; by PKC/PRKCB and PKC/PRKCQBy similarity1
Modified residuei886PhosphoserineCombined sources1
Modified residuei925PhosphoserineCombined sources1

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BXL7
MaxQBiQ9BXL7
PaxDbiQ9BXL7
PeptideAtlasiQ9BXL7
PRIDEiQ9BXL7
ProteomicsDBi79450

PTM databases

iPTMnetiQ9BXL7
PhosphoSitePlusiQ9BXL7

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000198286
CleanExiHS_CARD11
ExpressionAtlasiQ9BXL7 baseline and differential
GenevisibleiQ9BXL7 HS

Organism-specific databases

HPAiHPA052984

Interactioni

Subunit structurei

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). Interacts with BCL10; as part of a CBM (CARD11-BCL10-MALT1) complex involved in NF-kappa-B activation (PubMed:28628108).4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • CARD domain binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi124073, 30 interactors
CORUMiQ9BXL7
DIPiDIP-41797N
IntActiQ9BXL7, 16 interactors
MINTiQ9BXL7
STRINGi9606.ENSP00000380150

Structurei

Secondary structure

11154
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi24 – 27Combined sources4
Helixi30 – 36Combined sources7
Helixi39 – 48Combined sources10
Helixi54 – 61Combined sources8
Turni70 – 73Combined sources4
Helixi74 – 80Combined sources7
Helixi84 – 98Combined sources15
Helixi100 – 107Combined sources8

3D structure databases

ProteinModelPortaliQ9BXL7
SMRiQ9BXL7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 110CARDPROSITE-ProRule annotationAdd BLAST93
Domaini667 – 755PDZAdd BLAST89
Domaini973 – 1140Guanylate kinase-likeAdd BLAST168

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili130 – 449Sequence analysisAdd BLAST320

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410ISRJ Eukaryota
ENOG41126VR LUCA
GeneTreeiENSGT00530000063108
HOVERGENiHBG099790
InParanoidiQ9BXL7
KOiK07367
OMAiEACIVNL
OrthoDBiEOG091G0T58
PhylomeDBiQ9BXL7
TreeFamiTF351139

Family and domain databases

InterProiView protein in InterPro
IPR001315 CARD
IPR033538 CARD11
IPR011029 DEATH-like_dom_sf
IPR027417 P-loop_NTPase
IPR036034 PDZ_sf
PANTHERiPTHR14559:SF4 PTHR14559:SF4, 1 hit
PfamiView protein in Pfam
PF00619 CARD, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF50156 SSF50156, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50209 CARD, 1 hit

Sequencei

Sequence statusi: Complete.

Q9BXL7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPGGGPEMDD YMETLKDEED ALWENVECNR HMLSRYINPA KLTPYLRQCK 
        60         70         80         90        100
VIDEQDEDEV LNAPMLPSKI NRAGRLLDIL HTKGQRGYVV FLESLEFYYP 
       110        120        130        140        150
ELYKLVTGKE PTRRFSTIVV EEGHEGLTHF LMNEVIKLQQ QMKAKDLQRC 
       160        170        180        190        200
ELLARLRQLE DEKKQMTLTR VELLTFQERY YKMKEERDSY NDELVKVKDD 
       210        220        230        240        250
NYNLAMRYAQ LSEEKNMAVM RSRDLQLEID QLKHRLNKME EECKLERNQS 
       260        270        280        290        300
LKLKNDIENR PKKEQVLELE RENEMLKTKN QELQSIIQAG KRSLPDSDKA 
       310        320        330        340        350
ILDILEHDRK EALEDRQELV NRIYNLQEEA RQAEELRDKY LEEKEDLELK 
       360        370        380        390        400
CSTLGKDCEM YKHRMNTVML QLEEVERERD QAFHSRDEAQ TQYSQCLIEK 
       410        420        430        440        450
DKYRKQIREL EEKNDEMRIE MVRREACIVN LESKLRRLSK DSNNLDQSLP 
       460        470        480        490        500
RNLPVTIISQ DFGDASPRTN GQEADDSSTS EESPEDSKYF LPYHPPQRRM 
       510        520        530        540        550
NLKGIQLQRA KSPISLKRTS DFQAKGHEEE GTDASPSSCG SLPITNSFTK 
       560        570        580        590        600
MQPPRSRSSI MSITAEPPGN DSIVRRYKED APHRSTVEED NDSGGFDALD 
       610        620        630        640        650
LDDDSHERYS FGPSSIHSSS SSHQSEGLDA YDLEQVNLMF RKFSLERPFR 
       660        670        680        690        700
PSVTSVGHVR GPGPSVQHTT LNGDSLTSQL TLLGGNARGS FVHSVKPGSL 
       710        720        730        740        750
AEKAGLREGH QLLLLEGCIR GERQSVPLDT CTKEEAHWTI QRCSGPVTLH 
       760        770        780        790        800
YKVNHEGYRK LVKDMEDGLI TSGDSFYIRL NLNISSQLDA CTMSLKCDDV 
       810        820        830        840        850
VHVRDTMYQD RHEWLCARVD PFTDHDLDMG TIPSYSRAQQ LLLVKLQRLM 
       860        870        880        890        900
HRGSREEVDG THHTLRALRN TLQPEEALST SDPRVSPRLS RASFLFGQLL 
       910        920        930        940        950
QFVSRSENKY KRMNSNERVR IISGSPLGSL ARSSLDATKL LTEKQEELDP 
       960        970        980        990       1000
ESELGKNLSL IPYSLVRAFY CERRRPVLFT PTVLAKTLVQ RLLNSGGAME 
      1010       1020       1030       1040       1050
FTICKSDIVT RDEFLRRQKT ETIIYSREKN PNAFECIAPA NIEAVAAKNK 
      1060       1070       1080       1090       1100
HCLLEAGIGC TRDLIKSNIY PIVLFIRVCE KNIKRFRKLL PRPETEEEFL 
      1110       1120       1130       1140       1150
RVCRLKEKEL EALPCLYATV EPDMWGSVEE LLRVVKDKIG EEQRKTIWVD 

EDQL
Length:1,154
Mass (Da):133,284
Last modified:February 26, 2008 - v3
Checksum:i2F3512D903795D18
GO

Sequence cautioni

The sequence AAG53402 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI11720 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAQ96893 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAL23962 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti815L → P in AAG53402 (PubMed:11278692).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07928457E → D in IMD11B; no effect on protein abundance; decreased interaction with BCL10; dominant negative effect on NF-kappaB signaling; dominant negative effect on TORC1 signaling. 1 Publication1
Natural variantiVAR_069710123G → S in BENTA; results in protein aggregation; constitutive activation of NF-kappaB signaling. 1 PublicationCorresponds to variant dbSNP:rs387907352EnsemblClinVar.1
Natural variantiVAR_069711134E → G in BENTA; results in protein aggregation; constitutive activation of NF-kappaB signaling. 2 PublicationsCorresponds to variant dbSNP:rs387907351EnsemblClinVar.1
Natural variantiVAR_079285194L → P in IMD11B; no effect on protein abundance; decreased interaction with BCL10; dominant negative effect on NF-kappaB signaling; dominant negative effect on TORC1 signaling. 1 Publication1
Natural variantiVAR_028117670T → M. Corresponds to variant dbSNP:rs3735134Ensembl.1
Natural variantiVAR_028118694S → L. Corresponds to variant dbSNP:rs3735133Ensembl.1
Natural variantiVAR_079158945 – 1154Missing in IMD11A; results in defective NF-kappa-B activation. 1 PublicationAdd BLAST210
Natural variantiVAR_079286975R → W in IMD11B; no effect on protein abundance; dominant negative effect on NF-kappaB signaling; dominant negative effect on TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs1064795307Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF322641 mRNA Translation: AAG53402.1 Different initiation.
AC004906 Genomic DNA Translation: AAQ96893.1 Sequence problems.
CH236953 Genomic DNA Translation: EAL23962.1 Sequence problems.
BC111719 mRNA Translation: AAI11720.2 Different initiation.
AF352576 mRNA Translation: AAL34460.1
CCDSiCCDS5336.2
RefSeqiNP_001311210.1, NM_001324281.1
NP_115791.3, NM_032415.5
XP_011513888.1, XM_011515586.2
UniGeneiHs.648101

Genome annotation databases

EnsembliENST00000396946; ENSP00000380150; ENSG00000198286
GeneIDi84433
KEGGihsa:84433
UCSCiuc003smv.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCAR11_HUMAN
AccessioniPrimary (citable) accession number: Q9BXL7
Secondary accession number(s): A4D1Z7, Q2NKN7, Q548H3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: February 26, 2008
Last modified: July 18, 2018
This is version 160 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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