MALT1 - MALT1 paracaspase Gene

Also Known as MLT; MLT1; IMD12; PCASP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10892

About MALT1

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:58,671,465-58,754,477 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues and is associated with 74 phenotypes. Ubiquitous expression in lymph node (RPKM 9.6), appendix (RPKM 6.9) and 25 other tissues.

Summary

This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with Other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as Apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]

MALT1 Products (4)

mRNA	Protein	Name
NM_006785.4	NP_006776.1	mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform a
XR_007066087.1
XM_011525794.2	XP_011524096.1	mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform X1
NM_173844.3	NP_776216.1	mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables endopeptidase activity	IDA IDA: Inferred from direct assay	31133753	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22158899	GOA
contributes to kinase activator activity	IMP IMP: Inferred from mutant phenotype	15125833	GOA
enables peptidase activity	IDA IDA: Inferred from direct assay	18223652	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15125833	GOA
enables small molecule binding	EXP EXP: Inferred from Experiment	22366302	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	14695475	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in T cell receptor signaling pathway	IDA IDA: Inferred from direct assay	15125833	GOA
involved in nuclear export	IDA IDA: Inferred from direct assay	16123224	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	18223652	GOA
involved in positive regulation of T cell cytokine production	IMP IMP: Inferred from mutant phenotype	15125833	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	18223652	GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	22267217	GOA
involved in positive regulation of interleukin-1 beta production	IMP IMP: Inferred from mutant phenotype	22267217	GOA
involved in positive regulation of interleukin-2 production	IMP IMP: Inferred from mutant phenotype	15125833	GOA
involved in proteolysis	IDA IDA: Inferred from direct assay	18223652	GOA
involved in proteolysis involved in protein catabolic process	IDA IDA: Inferred from direct assay	31133753	GOA
acts upstream of or within regulation of apoptotic process	IDA IDA: Inferred from direct assay	12819136	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of CBM complex	IDA IDA: Inferred from direct assay	28628108	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	16123224	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16123224	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	15125833	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MALT1 Protein Structure

Ig_2

Peptidase_C14

0
200
400
600
824 a.a.

Protein Preferred Names	Protein Names
mucosa-associated lymphoid tissue lymphoma translocation protein 1	MALT1 protease caspase-like protein mucosa associated lymphoid tissue lymphoma translocation gene 1 paracaspase-1

MALT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MALT1	Q9UDY8	BCL10	Homo sapiens	O95999	Anti Tag CoIP	17948050
Intra	MALT1	Q9UDY8	BCL10	Homo sapiens	O95999	Anti Bait CoIP	22267217
Intra	MALT1	Q9UDY8	BCL10	Homo sapiens	O95999	Anti Bait CoIP	27070702
Intra	MALT1	Q9UDY8	TRAF6	Homo sapiens	Q9Y4K3	Anti Bait CoIP	17948050
Intra	MALT1	Q9UDY8	BCL10	Homo sapiens	O95999	Anti Bait CoIP	19118383
Intra	MALT1	Q9UDY8	BCL10	Homo sapiens	O95999	Anti Tag CoIP	19444310
Intra	MALT1	Q9UDY8	BCL10	Homo sapiens	O95999	Anti Tag CoIP	27071417
Intra	MALT1	Q9UDY8	CSNK1A1	Homo sapiens	P48729	Anti Bait CoIP	19118383
Intra	MALT1	Q9UDY8	UBC	Homo sapiens	P0CG48	Anti Bait CoIP	17948050
Intra	MALT1	Q9UDY8	UBC	Homo sapiens	P0CG48	Anti Tag CoIP	17948050
Intra	MALT1	Q9UDY8	TRAF6	Homo sapiens	Q9Y4K3	Anti Tag CoIP	17948050
Intra	MALT1	Q9UDY8	TRAF6	Homo sapiens	Q9Y4K3	Anti Bait CoIP	22528498
Intra	MALT1	Q9UDY8	TRAF6	Homo sapiens	Q9Y4K3	Anti Tag CoIP	22528498
Intra	MALT1	Q9UDY8	SHARPIN	Homo sapiens	Q9H0F6	Anti Bait CoIP	27070702
Intra	MALT1	Q9UDY8	CASP8	Homo sapiens	Q14790	Anti Bait CoIP	22267217
Intra	MALT1	Q9UDY8	IKBKG	Homo sapiens	Q9Y6K9	Pull Down	17948050
Intra	MALT1	Q9UDY8	IKBKG	Homo sapiens	Q9Y6K9	Anti Bait CoIP	17948050

Cross: Cross-species interaction Intra: Intraspecies interaction

MALT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81596	MALT1 Antibody (YA1341)	WB, ICC/IF, FC	Human

Related Diseases

Diseases	Alias
Immunodeficiency 11	Immunodeficiency 11a Severe Combined Immunodeficiency Due To Card11 Deficiency IMD11A Imd11 Card11 Immunodeficiency Scid Due To Card11 Deficiency Card11 Deficiency Immunodeficiency 11 A
Combined T And B Cell Immunodeficiency
Gastrointestinal Lymphoma
Lymphoma, Mucosa-Associated Lymphoid Type	Malt Lymphoma Gastric Lymphoma, Primary Lymphoma, Malt, Somatic Mucosa-Associated Lymphoid Tissue Lymphoma Extranodal Marginal Zone B-Cell Lymphoma MALTOMA Marginal Zone B-Cell Lymphoma Mucosa-Associated Lymphatic Tissue Lymphoma Primary Gastric Lymphoma Gastric Lymphoma Familial Primary Gastric Lymphoma
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Immunodeficiency 12	Combined Immunodeficiency Due To Malt1 Deficiency IMD12 Immunodeficiency, Type 12
Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma Lymphoma, Non-Hodgkin NHL Lymphoma, Non-Hodgkin, Somatic Lymphoma, Follicular, Somatic Familial Non-Hodgkin Lymphoma Lymphoma Non-Hodgkins Follicular Lymphoma, Somatic Lymphosarcoma Non-Hodgkins Lymphoma
Gallbladder Lymphoma	Lymphoma Of The Gallbladder
Duodenitis	Hemorrhagic Duodenitis Acute Enteritis Of The Mouse Intestinal Tract Nonspecific Duodenitis Inflammation Of Duodenum Dodecadactylitis Duodenal Inflammation Peptic Duodenitis
Cheilitis
Mastoiditis	Mastoiditis Nec
Nodal Marginal Zone Lymphoma	Mucosa-Associated Lymphoid Tissue Lymphoma Monocytoid B-Cell Lymphoma
Spleen Cancer	Spleen Neoplasm Splenic Neoplasm Splenic Neoplasms Malignant Splenic Tumor Malignant Tumour Of Spleen Tumor Of Spleen Malignant Neoplasm Of Spleen
Orofaciodigital Syndrome Viii	Edwards Syndrome Trisomy 18 Complete Trisomy 18 Syndrome OFD8 Orofaciodigital Syndrome 8 Trisomy 18 Syndrome Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis E3 Trisomy Oral-Facial-Digital Syndrome Type 8 Orofaciodigital Syndrome Type 8 Ofds Viii Oral-Facial-Digital Syndrome, Type Viii Ofd Syndrome 8 Ofds 8 Oral Facial Digital Syndrome 8 Oral Facial Digital Syndrome Type 8 18 Trisomy Chromosome 18 Trisomy Trisomy 16-18 Trisomy E Trisomy E Syndrome Chromosome 18 Duplication Oral-Facial-Digital Syndrome, Edwards Type Orofaciodigital Syndrome, Edwards Type Chromosome 18, Trisomy Cleft Lip/Palate With Abnormal Thumbs And Microcephaly Trisomy 18 Chromosome Abnormal Autosomes 18
Marginal Zone B-Cell Lymphoma	Marginal Zone Lymphoma Mzl Mucosa-Associated Lymphoid Tissue Lymphoma
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Mantle Cell Lymphoma	Lymphoma, Mantle Cell Lcm Mcl Mantle Zone Lymphoma Lymphoma Mantle-Cell Lymphoma, Mantle-Cell Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse Malignant Lymphoma - Lymphocytic, Intermediate Differentiation Diffuse Small Cleaved-Cell Lymphoma Diffuse Small Cleaved Cell Malignant Lymphoma Small Cleaved Cell Non-Hodgkin Lymphoma Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma Malignant Lymphomatous Polyposis Malignant Small Cell, Noncleaved, Diffuse Lymphoma Malignant Undifferentiated Cell, Non-Burkitt Lymphoma Cleaved Cell Lymphoma Small Cell Mantle Cell Lymphoma Small Cleaved Cell Malignant Lymphoma
Lymphoma	Lymphoid Cancer Lymphomas Lymphoid Cancers Lymphoid Neoplasm Lymphoma Nos Nhl - [Non-Hodgkin Lymphoma] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma, Nos Non-Hodgkin Malignant Lymphoma Nos
Chronic Mucocutaneous Candidiasis	Candidiasis, Chronic Mucocutaneous Cmc Candidiasis Chronic Mucocutaneous
Alpha Chain Disease	Seligmann'S Disease Immunoproliferative Small Intestinal Disease
Glycogen Storage Disease Iv	Gsd Iv Glycogen Branching Enzyme Deficiency Andersen Disease Amylopectinosis Glycogen Storage Disease Type Iv GSD4 Brancher Deficiency Glycogen Storage Disease, Type Iv Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gbe1 Deficiency Glycogenosis Iv Cirrhosis, Familial, With Deposition Of Abnormal Glycogen Glycogen Storage Disease Type 4 Glycogenosis 4 Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features Andersen'S Disease Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Brancher Deficiency Glycogenosis Branching-Transferase Deficiency Glycogenosis Deficiency Of 1,4-Alpha-Glucan Branching Enzyme Andersen-Tawil Syndrome Gsd 4 Andersen Cardiodysrhythmic Periodic Paralysis Lqt7 Long Qt Syndrome 7 Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Andersen Glycogenosis Branching Enzyme Deficiency Glycogenosis, Type Iv Gsd Type Iv Type Iv Glycogenosis Gbe Deficiency, Childhood Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Gsd Type 4, Childhood Neuromuscular Form Gsdiv, Childhood Neuromuscular Form Glycogen Storage Disease Type 4, Childhood Neuromuscular Form Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogenosis Type 4, Childhood Neuromuscular Form Glycogenosis Type Iv, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gbe Deficiency, Adult Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gsd Type 4, Adult Neuromuscular Form Gsdiv, Adult Neuromuscular Form Glycogen Storage Disease Type 4, Adult Neuromuscular Form Glycogen Storage Disease Type Iv, Adult Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Glycogenosis Type 4, Adult Neuromuscular Form Glycogenosis Type Iv, Adult Neuromuscular Form Gbe Deficiency, Congenital Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gsd Type 4, Congenital Neuromuscular Form Gsdiv, Congenital Neuromuscular Form Glycogen Storage Disease Type 4, Congenital Neuromuscular Form Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Glycogenosis Type 4, Congenital Neuromuscular Form Glycogenosis Type Iv, Congenital Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Type 4, Childhood Combined Hepatic And Myopathic Form Gsdiv, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Fatal Perinatal Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Gsd Type 4, Fatal Perinatal Neuromuscular Form Gsdiv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gbe Deficiency, Non Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gsd Type 4, Non Progressive Hepatic Form Gsdiv, Non Progressive Hepatic Form Glycogen Storage Disease Type 4, Non Progressive Hepatic Form Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Glycogenosis Type 4, Non Progressive Hepatic Form Glycogenosis Type Iv, Non Progressive Hepatic Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gbe Deficiency, Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gsd Type 4, Progressive Hepatic Form Gsdiv, Progressive Hepatic Form Glycogen Storage Disease Type 4, Progressive Hepatic Form Glycogen Storage Disease Type Iv, Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Glycogenosis Type 4, Progressive Hepatic Form Glycogenosis Type Iv, Progressive Hepatic Form Glycogen Storage Disease 4 Gsd-Iv Storage Disease, Glycogen, Type Iv
Chromosomal Triplication	Trisomy
Lung Lymphoma	Pulmonary Lymphoma Lymphoma Of Lung Primary Lung Lymphoma
Immunodeficiency 11b With Atopic Dermatitis	IMD11B Atopic Dermatitis, Elevated Ige, And Eosinophilia Immunodeficiency 11b
Orbit Lymphoma	Orbital Lymphoma Lymphoma Of The Orbit
Sezary'S Disease	Sezary Syndrome Sézary Syndrome Sezary'S Lymphoma Sezary Disease Sezary Erythroderma Sezary Lymphoma
Chronic Dacryoadenitis
Gastric Lymphoma	Familial Primary Gastric Lymphoma Lymphoma Of The Stomach Primary Gastric Lymphoma
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-139399	Safimaltib	Inhibitor	99.63%	Phase 1
HY-160698	SGR-1505	Inhibitor	99.89%	Phase 1

Pre-clinical Phase

Bioactive Molecules (32)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12276	MALT1 inhibitor MI-2	Inhibitor	99.73%	Unkown
HY-115466	MLT-748	Inhibitor	99.89%	Unkown
HY-121282	Mepazine	Inhibitor	99.71%	Unkown
HY-142648	MLT-985	Inhibitor	99.49%	Unkown
HY-121282A	Mepazine hydrochloride	Inhibitor	99.25%	Unkown
HY-134820	MLT-943	Inhibitor	99.71%	Unkown
HY-120231	Z-VRPR-FMK	Inhibitor	99.91%	Unkown
HY-124587	MLT-747	Inhibitor	99.75%	Unkown
HY-174371	INNO-220	Inhibitor	98.60%	Unkown
HY-173097	(S,R,S)-AHPC-Boc derivative 1	Degrader	98.56%	Unkown
HY-131902	MLT-231	Inhibitor	99.55%	Unkown
HY-150232	MALT1-IN-11	Inhibitor	/	Unkown
HY-P1407	Z-Val-Arg-Pro-DL-Arg-Fluoromethylketone TFA	Inhibitor	95.92%	Unkown
HY-121282B	Mepazine acetate	Inhibitor	/	Unkown
HY-143427	MALT1-IN-9	Inhibitor	/	Unkown
HY-143423A	(S)-MALT1-IN-5	Inhibitor	/	Unkown
HY-143422A	(R)-MALT1-IN-3	Inhibitor	/	Unkown
HY-143423	MALT1-IN-5	Inhibitor	/	Unkown
HY-148249	NVS-MALT1	Inhibitor	/	Unkown
HY-143425	MALT1-IN-7	Inhibitor	/	Unkown
HY-143426	MALT1-IN-8	Inhibitor	/	Unkown
HY-142648A	(R)-MLT-985	Inhibitor	/	Unkown
HY-P11427	Ac-LVSR-AMC		/	Unkown
HY-P4544	Z-Val-Arg-Pro-DL-Arg-Fluoromethylketone	Inhibitor	/	Unkown
HY-164560	MALT1-IN-14	Inhibitor	/	Unkown
HY-143425A	(R)-MALT1-IN-7	Inhibitor	/	Unkown
HY-177117	Ocipumaltib	Inhibitor	/	Unkown
HY-162268	MALT1-IN-13	Inhibitor	/	Unkown
HY-151805	RGT-068A	Inhibitor	/	Unkown
HY-185358	PROTAC MALT1 Degrader-1	Degrader	/	Unkown
HY-143422	MALT1-IN-3	Inhibitor	/	Unkown
HY-143424	MALT1-IN-6	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MALT1	VGNC	VGNC:74482
Bos taurus	MALT1	VGNC	VGNC:31156
Rattus norvegicus	MALT1	RGD	RGD:1309195
Mus musculus	MALT1	MGD	MGI:2445027
Canis familiaris	MALT1	VGNC	VGNC:42936
Felis catus	MALT1	VGNC	VGNC:68142
Others	MALT1	NCBI