InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MALT1

Summary

InnateDB Protein

IDBP-3934.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MALT1

Protein Name

mucosa associated lymphoid tissue lymphoma translocation gene 1

Synonyms

IMD12; MLT; MLT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000304161

InnateDB Gene

IDBG-3930 (MALT1)

Protein Structure

UniProt Annotation

Function

Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. {ECO:0000269PubMed:11262391, ECO:0000269PubMed:14695475, ECO:0000269PubMed:18264101}.

Subcellular Localization

Cytoplasm, perinuclear region {ECO:0000269PubMed:16123224}. Nucleus {ECO:0000269PubMed:16123224}. Note=Shuttles between the nucleus and cytoplasm. Found in perinuclear structures together with BCL10.

Disease Associations

Immunodeficiency 12 (IMD12) [MIM:615468]: A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. {ECO:0000269PubMed:23727036}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving MALT1 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma). Translocation t(11;18)(q21;q21) with BIRC2. This translocation is found in approximately 50% of cytogenetically abnormal low-grade MALT lymphoma.

Tissue Specificity

Highly expressed in peripheral blood mononuclear cells. Detected at lower levels in bone marrow, thymus and lymph node, and at very low levels in colon and lung.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 62 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	62 [view]
Protein-Protein	61 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004197	cysteine-type endopeptidase activity
GO:0004842	ubiquitin-protein transferase activity
GO:0004871	signal transducer activity
GO:0005515	protein binding
GO:0008233	peptidase activity
GO:0019209	kinase activator activity
GO:0043621	protein self-association

Biological Process

GO:0002726	positive regulation of T cell cytokine production
GO:0006508	proteolysis
GO:0006952	defense response
GO:0007250	activation of NF-kappaB-inducing kinase activity
GO:0016567	protein ubiquitination
GO:0031398	positive regulation of protein ubiquitination
GO:0032743	positive regulation of interleukin-2 production
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0042981	regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087	innate immune response (InnateDB)
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:0051168	nuclear export
GO:0051259	protein oligomerization

Cellular Component

GO:0005634	nucleus
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0032449	CBM complex
GO:0043234	protein complex
GO:0048471	perinuclear region of cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR001309 Peptidase C14, ICE, catalytic subunit p20
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR011029 Death-like domain
IPR011600 Peptidase C14, caspase domain
IPR013098 Immunoglobulin I-set
IPR013151 Immunoglobulin

PFAM

PF00656
PF07679
PF00047

PRINTS

PIRSF

SMART

SM00408
SM00409

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UDY8