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  2. MALT1 - MALT1 paracaspase Gene

MALT1 - MALT1 paracaspase Gene

中文名称:MALT1 副半胱天冬酶

种属: Homo sapiens

同用名: MLT; MLT1; IMD12; PCASP1

基因 ID: 10892 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种半胱天冬酶样蛋白酶,在 BCL10 诱导的 NF-kappaB 激活中发挥作用。该蛋白质是 CARMA1-BCL10-MALT1 (CBM) 信号体的组成部分,可在抗原-受体刺激后触发 NF-kappaB 信号和淋巴细胞激活。该基因的突变导致免疫缺陷 12 (IMD12) 。已发现该基因在粘膜相关淋巴组织淋巴瘤中与其他基因的染色体易位反复重排,包括 at (11;18) (q21;q21) 易位与杆状病毒 IAP 重复蛋白 3 (也称为细胞凋亡) 抑制剂 2) 位点 [BIRC3 (API2) -MALT1],以及 at (14;18) (q32;q21) 易位与免疫球蛋白重链位点 (IGH-MALT1) 。已经描述了该基因的可变剪接转录物变体。[RefSeq 提供,2018 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables endopeptidase activity IDA
IDA: 通过直接分析推断
31133753 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22158899 GOA
contributes to kinase activator activity IMP
IMP: 通过突变表型推断
15125833 GOA
enables peptidase activity IDA
IDA: 通过直接分析推断
18223652 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15125833 GOA
enables small molecule binding EXP
EXP: 通过实验结果推断
22366302 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
14695475 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CBM complex IDA
IDA: 通过直接分析推断
28628108 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
16123224 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16123224 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
15125833 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MALT1 蛋白结构

Ig_2

Ig_2: Immunoglobulin domain (132 - 194)

Ig_2

Ig_2: Immunoglobulin domain (231 - 308)

Peptidase_C14

Peptidase_C14: Caspase domain (343 - 470)

  • 0
  • 200
  • 400
  • 600
  • 824 a.a.
蛋白主名 其他名称

mucosa-associated lymphoid tissue lymphoma translocation protein 1

MALT1 protease

caspase-like protein

mucosa associated lymphoid tissue lymphoma translocation gene 1

paracaspase-1

MALT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MALT1 Q9UDY8 BCL10 Homo sapiens O95999 17948050
种属内
MALT1 Q9UDY8 BCL10 Homo sapiens O95999 22267217
种属内
MALT1 Q9UDY8 BCL10 Homo sapiens O95999 27070702
种属内
MALT1 Q9UDY8 TRAF6 Homo sapiens Q9Y4K3 17948050
种属内
MALT1 Q9UDY8 BCL10 Homo sapiens O95999 19118383
种属内
MALT1 Q9UDY8 BCL10 Homo sapiens O95999 19444310
种属内
MALT1 Q9UDY8 BCL10 Homo sapiens O95999 27071417
种属内
MALT1 Q9UDY8 CSNK1A1 Homo sapiens P48729 19118383
种属内
MALT1 Q9UDY8 UBC Homo sapiens P0CG48 17948050
种属内
MALT1 Q9UDY8 UBC Homo sapiens P0CG48 17948050
种属内
MALT1 Q9UDY8 TRAF6 Homo sapiens Q9Y4K3 17948050
种属内
MALT1 Q9UDY8 TRAF6 Homo sapiens Q9Y4K3 22528498
种属内
MALT1 Q9UDY8 TRAF6 Homo sapiens Q9Y4K3 22528498
种属内
MALT1 Q9UDY8 SHARPIN Homo sapiens Q9H0F6 27070702
种属内
MALT1 Q9UDY8 CASP8 Homo sapiens Q14790 22267217
种属内
MALT1 Q9UDY8 IKBKG Homo sapiens Q9Y6K9 17948050
种属内
MALT1 Q9UDY8 IKBKG Homo sapiens Q9Y6K9 17948050
种属间: 跨种属相互作用 种属内: 同种属相互作用

MALT1 抗体

目录号 产品名 应用 反应物种
HY-P81596 MALT1 Antibody (YA1341) WB, ICC/IF, FC Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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