• Gene id: 84433

Gene Summary

• Gene Symbol: CARD11   Gene   UCSC   Ensembl
• Aliases: BENTA, BIMP3, CARMA1, IMD11, IMD11A, PPBL
• Gene name: caspase recruitment domain family member 11
• Alternate names: caspase recruitment domain-containing protein 11, CARD-containing MAGUK protein 1, bcl10-interacting maguk protein 3, carma 1,
• Gene location: 7p22.2 (3043866: 2906074)     Exons: 26     NC_000007.14
• Gene summary(Entrez): 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 p
• OMIM: 609235

Protein Summary

• Protein general information: Q9BXL7  
  • Name: Caspase recruitment domain containing protein 11 (CARD containing MAGUK protein 1) (Carma 1)
  • Length: 1154  
  • Mass: 133284
  • 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 cell
• Sequence:

  MPGGGPEMDDYMETLKDEEDALWENVECNRHMLSRYINPAKLTPYLRQCKVIDEQDEDEVLNAPMLPSKINRAGR
  LLDILHTKGQRGYVVFLESLEFYYPELYKLVTGKEPTRRFSTIVVEEGHEGLTHFLMNEVIKLQQQMKAKDLQRC
  ELLARLRQLEDEKKQMTLTRVELLTFQERYYKMKEERDSYNDELVKVKDDNYNLAMRYAQLSEEKNMAVMRSRDL
  QLEIDQLKHRLNKMEEECKLERNQSLKLKNDIENRPKKEQVLELERENEMLKTKNQELQSIIQAGKRSLPDSDKA
  ILDILEHDRKEALEDRQELVNRIYNLQEEARQAEELRDKYLEEKEDLELKCSTLGKDCEMYKHRMNTVMLQLEEV
  ERERDQAFHSRDEAQTQYSQCLIEKDKYRKQIRELEEKNDEMRIEMVRREACIVNLESKLRRLSKDSNNLDQSLP
  RNLPVTIISQDFGDASPRTNGQEADDSSTSEESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAK
  GHEEEGTDASPSSCGSLPITNSFTKMQPPRSRSSIMSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALD
  LDDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMFRKFSLERPFRPSVTSVGHVRGPGPSVQHTTLNGDS
  LTSQLTLLGGNARGSFVHSVKPGSLAEKAGLREGHQLLLLEGCIRGERQSVPLDTCTKEEAHWTIQRCSGPVTLH
  YKVNHEGYRKLVKDMEDGLITSGDSFYIRLNLNISSQLDACTMSLKCDDVVHVRDTMYQDRHEWLCARVDPFTDH
  DLDMGTIPSYSRAQQLLLVKLQRLMHRGSREEVDGTHHTLRALRNTLQPEEALSTSDPRVSPRLSRASFLFGQLL
  QFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSLIPYSLVRAFYCERRR
  PVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKTETIIYSREKNPNAFECIAPANIEAVAAKNK
  HCLLEAGIGCTRDLIKSNIYPIVLFIRVCEKNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATVEPDMW
  GSVEELLRVVKDKIGEEQRKTIWVDEDQL

• Structural information:
  • Protein Domains: (18..11-)
    (/note="CARD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046-)
    (667..75-)
    (/note="PDZ-)
    (973..114-)
    (/note="Guanylate-kinase-like")
  • Interpro: IPR001315  IPR033538  IPR042141  IPR011029  IPR027417   IPR036034  
  • Prosite: PS50209
  • CDD: cd08808
  • PDB: 4JUP 4LWD
  • PDBsum: 4JUP 4LWD
  • DIP: 41797
  • STRING: ENSP00000380150
• Other Databases: GeneCards:  CARD11  Malacards:  CARD11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050700	CARD domain binding	IBA	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0031295	T cell costimulation	IDA	biological process
GO:0032449	CBM complex	IDA	cellular component
GO:0038202	TORC1 signaling	IMP	biological process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0002223	stimulatory C-type lectin receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001772	immunological synapse	IEA	cellular component
GO:0002377	immunoglobulin production	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0042110	T cell activation	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0045086	positive regulation of interleukin-2 biosynthetic process	IEA	biological process
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0042100	B cell proliferation	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IEA	biological process
GO:0045061	thymic T cell selection	IEA	biological process
GO:0045577	regulation of B cell differentiation	IEA	biological process
GO:0046649	lymphocyte activation	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0050870	positive regulation of T cell activation	IEA	biological process
GO:0070970	interleukin-2 secretion	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0046710	GDP metabolic process	IEA	biological process
GO:0046037	GMP metabolic process	IEA	biological process
GO:0045121	membrane raft	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0050700	CARD domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0004385	guanylate kinase activity	NAS	molecular function
GO:0032743	positive regulation of interleukin-2 production	IMP	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0050862	positive regulation of T cell receptor signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04064	NF-kappa B signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04662	B cell receptor signaling pathway

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Primary central nervous system lymphoma	KEGG:H02424
Combined immunodeficiency	KEGG:H00093
Primary central nervous system lymphoma	KEGG:H02424
diffuse large B-cell lymphoma	PMID:18323416
Acute T cell leukemia	PMID:25384343
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq