MAP3K20 - mitogen-activated protein kinase kinase kinase 20 Gene

中文名称：丝裂原活化蛋白激酶激酶 20

种属: Homo sapiens

同用名: pk; AZK; MLT; MRK; ZAK; CNM6; MLK7; MLTK; SFMMP; mlklak; MLTKbeta; MLTKalpha

基因 ID: 51776 | 基因类型: protein coding

关于 MAP3K20

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:173,075,517-173,268,015 (from NCBI)

This gene has 8 transcripts (splice variants), 147 orthologues, 23 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 51.0), fat (RPKM 33.9) and 21 other tissues.

功能概要

该基因是信号转导分子 MAPKKK 家族的成员，编码的蛋白质具有 N 末端激酶催化结构域，随后是亮氨酸拉链基序和无菌-α 基序 (SAM) 。这种镁结合蛋白形成同型二聚体并位于细胞质中。该蛋白介导导致细胞周期停滞的伽马辐射信号，该蛋白的活性在细胞的细胞周期检查点调节中发挥作用。该蛋白还具有促细胞凋亡活性。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供，2008 年 7 月]

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

MAP3K20 基因产物(2)

mRNA	Protein	Name
NM_016653.3	NP_057737.2	mitogen-activated protein kinase kinase kinase 20 isoform 1
NM_133646.3	NP_598407.1	mitogen-activated protein kinase kinase kinase 20 isoform 2

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 ATP binding	IDA IDA: 通过直接分析推断	11836244	GOA
enables JUN kinase kinase kinase activity	IDA IDA: 通过直接分析推断	11836244	GOA
enables MAP kinase kinase kinase activity	IDA IDA: 通过直接分析推断	11836244	GOA
enables magnesium ion binding	IDA IDA: 通过直接分析推断	11836244	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12761180	GOA
enables protein kinase activator activity	IDA IDA: 通过直接分析推断	32610081	GOA
enables protein serine/threonine kinase activity	IDA IDA: 通过直接分析推断	32289254	GOA
enables ribosome binding	IDA IDA: 通过直接分析推断	32289254	GOA
enables small ribosomal subunit rRNA binding	IDA IDA: 通过直接分析推断	32289254	GOA
enables stalled ribosome sensor activity	IDA IDA: 通过直接分析推断	32289254	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage checkpoint signaling	IMP IMP: 通过突变表型推断	11836244	GOA
acts upstream of GCN2-mediated signaling	IDA IDA: 通过直接分析推断	32610081	GOA
involved in JNK cascade	IDA IDA: 通过直接分析推断	11836244	GOA
involved in MAPK cascade	IDA IDA: 通过直接分析推断	18331592	GOA
involved in cellular response to UV-B	IDA IDA: 通过直接分析推断	32289254	GOA
involved in cellular response to gamma radiation	IDA IDA: 通过直接分析推断	11836244	GOA
involved in embryonic digit morphogenesis	IMP IMP: 通过突变表型推断	26755636	GOA
involved in inflammatory response	IMP IMP: 通过突变表型推断	18331592	GOA
involved in limb development	IMP IMP: 通过突变表型推断	26755636	GOA
involved in negative regulation of stress-activated protein kinase signaling cascade	IDA IDA: 通过直接分析推断	35857590	GOA
involved in negative regulation of translation in response to endoplasmic reticulum stress	IDA IDA: 通过直接分析推断	32610081	GOA
involved in p38MAPK cascade	IDA IDA: 通过直接分析推断	11836244	GOA
involved in positive regulation of apoptotic process	IDA IDA: 通过直接分析推断	10924358	GOA
involved in positive regulation of mitotic DNA damage checkpoint	IDA IDA: 通过直接分析推断	15342622	GOA
acts upstream of positive regulation of programmed cell death	IDA IDA: 通过直接分析推断	32289254	GOA
involved in protein autophosphorylation	IDA IDA: 通过直接分析推断	12220515	GOA
involved in protein phosphorylation	IDA IDA: 通过直接分析推断	11836244	GOA
acts upstream of positive effect pyroptotic inflammatory response	IDA IDA: 通过直接分析推断	35857590	GOA
involved in stress-activated MAPK cascade	IDA IDA: 通过直接分析推断	11836244	GOA
involved in stress-activated protein kinase signaling cascade	IDA IDA: 通过直接分析推断	35857590	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in cytoplasm	IDA IDA: 通过直接分析推断	15684425	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

MAP3K20 蛋白结构

Pkinase_Tyr

SAM_1

0
200
400
600
800 a.a.

蛋白主名

其他名称

mitogen-activated protein kinase kinase kinase 20

HCCS-4

MAP3K20 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	MAP3K20	Q9NYL2	RPS6KA5	Homo sapiens	O75582	Y2H	21988832
种属内	MAP3K20	Q9NYL2	RPS6KA5	Homo sapiens	O75582	Anti Tag CoIP	21988832
种属内	MAP3K20	Q9NYL2	ZNF567	Homo sapiens	Q8N184	Y2H	21516116
种属内	MAP3K20	Q9NYL2	ZNF567	Homo sapiens	Q8N184	Y2H Pooling	16189514

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Split-Foot Malformation With Mesoaxial Polydactyly

SFMMP	Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Split-Foot Malformation-Mesoaxial Polydactyly-Nail Abnormalities-Sensorineural Hearing Loss Syndrome

Myopathy, Centronuclear, 6, With Fiber-Type Disproportion

CNM6	Centronuclear Myopathy 6 With Fiber-Type Disproportion
Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion

Split-Hand/Foot Malformation 1

Ectrodactyly	Split Hand-Foot Malformation 1
SHFM1	Shfd1
Split-Hand Deformity	Split-Hand/Foot Malformation 1 With Or Without Deafness
Split-Hand/Foot Deformity 1	Ecd
Split Hand/Foot Malformation Type 1	Split Hand Foot Deformity 1
Split-Hand/Foot Malformation

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive

Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss	SHFM1D
Deafness, Congenital, With Split Hands And Feet	Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss
Congenital Deafness With Split Hands And Feet	Split Hand-Split Foot-Deafness Syndrome
Split Hand-Split Foot-Hearing Loss Syndrome	Congenital Deafness And Split Hands And Feet
Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss	Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Myopathy

Muscular Diseases

Myopathies

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-148063	DB0614		98.80%	否
HY-148061	DB1113		99.22%	否
HY-RS08055	MAP3K20 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	MAP3K20	MGD	MGI:2443258
Rattus norvegicus	MAP3K20	RGD	RGD:1561394
Macaca mulatta	MAP3K20	VGNC	VGNC:99379
Canis familiaris	MAP3K20	VGNC	VGNC:53099

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