1. Gene
  2. MLKL - mixed lineage kinase domain like pseudokinase Gene

MLKL - mixed lineage kinase domain like pseudokinase Gene

中文名称:混合谱系激酶结构域样假激酶

种属: Homo sapiens

同用名: hMLKL

基因 ID: 197259 | 基因类型: protein coding

关于 MLKL

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:74,671,855-74,700,862 (from NCBI)

This gene has 8 transcripts (splice variants), 178 orthologues and 23 paralogues. Broad expression in spleen (RPKM 10.5), bone marrow (RPKM 10.4) and 23 other tissues.

功能概要

该基因属于蛋白激酶超家族。编码的蛋白质包含蛋白激酶样结构域;然而,被认为是无活性的,因为它缺少活性所需的几个残基。该蛋白通过与受体相互作用蛋白 3 (RIP3) 相互作用,在肿瘤坏死因子 (TNF) 诱导的坏死性凋亡中发挥关键作用,这是一种程序性细胞死亡过程,RIP3 是坏死性凋亡途径中的关键信号分子。抑制剂研究和该基因的敲低抑制了 TNF 诱导的坏死。高水平的这种蛋白质和 RIP3 与儿童炎症性肠病有关。已经描述了该基因的可变剪接转录物变体。[RefSeq 提供,2015 年 9 月]

This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced Necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in Necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]

MLKL 基因产物(2)

mRNA Protein Name
NM_001142497.3 NP_001135969.1 mixed lineage kinase domain-like protein isoform 2
NM_152649.4 NP_689862.1 mixed lineage kinase domain-like protein isoform 1
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
24219132 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
24316671 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22265413 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
22265414 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in execution phase of necroptosis IDA
IDA: 通过直接分析推断
24316671 GOA
involved in necroptotic process IMP
IMP: 通过突变表型推断
22265414 GOA
involved in necroptotic signaling pathway IMP
IMP: 通过突变表型推断
22265413 GOA
involved in protein homotrimerization IDA
IDA: 通过直接分析推断
24316671 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
24316671 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24316671 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

MLKL 蛋白结构

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (219 - 466)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 471 a.a.
蛋白主名 其他名称

mixed lineage kinase domain-like protein

MLKL 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
MLKL Q8NB16 RIPK3 Homo sapiens Q9Y572 22265413
种属间: 跨种属相互作用 种属内: 同种属相互作用

MLKL 抗体

目录号 产品名 应用 反应物种
HY-P81878 Phospho-MLKL (Ser358) Antibody (YA1623) WB, IHC-P Human

关联疾病

疾病名称 别名
Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Caspase 8 Deficiency

Autoimmune Lymphoproliferative Syndrome Type 2b

Caspase-8 Deficiency

Ceds

Alps2b

Autoimmune Lymphoproliferative Syndrome, Type Iib

Alps With Recurrent Viral Infections

Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections

Caspase 8 Deficiency Syndrome

Caspase 8 Lymphadenopathy Syndrome

Autoimmune Lymphoproliferative Syndrome Type Iib

Caspase Eight Deficiency State

CASP8D

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Rattus norvegicus MLKL RGD RGD:1592221
Mus musculus MLKL MGD MGI:1921818
Bos taurus MLKL VGNC VGNC:31500
Macaca mulatta MLKL VGNC VGNC:82188
Others MLKL NCBI