1. Gene
  2. MADD - MAP kinase activating death domain Gene

MADD - MAP kinase activating death domain Gene

中文名称:MAP 激酶激活死亡域

种属: Homo sapiens

同用名: DENN; IG20; DEEAH; RabGEF; NEDDISH; RAB3GEP

基因 ID: 8567 | 基因类型: protein coding

关于 MADD

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,269,188-47,330,031 (from NCBI)

This gene has 23 transcripts (splice variants), 218 orthologues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 27.7), testis (RPKM 18.3) and 25 other tissues.

功能概要

肿瘤坏死因子 alpha (TNF-alpha) 是一种信号分子,它与靶向细胞凋亡的细胞上的两种受体之一相互作用。细胞质衔接蛋白在这些细胞内转导细胞凋亡信号。该基因编码的蛋白质是一种包含死亡结构域的衔接蛋白,它与 TNF-α 受体 1 的死亡结构域相互作用,激活丝裂原活化蛋白激酶 (MAPK) 并传播凋亡信号。它是膜结合的,在肿瘤细胞中的表达水平高于正常细胞。已经描述了该基因的几种编码不同亚型的转录物变体。[RefSeq 提供,2008 年 7 月]

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for Apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

MADD 基因产物(97)

mRNA Protein Name
NM_001135943.2 NP_001129415.1 MAP kinase-activating death domain protein isoform 9
NM_001135944.2 NP_001129416.1 MAP kinase-activating death domain protein isoform 10
NM_001376571.1 NP_001363500.1 MAP kinase-activating death domain protein isoform 11
NM_001376572.1 NP_001363501.1 MAP kinase-activating death domain protein isoform 12
NM_001376573.1 NP_001363502.1 MAP kinase-activating death domain protein isoform 13
NM_001376574.1 NP_001363503.1 MAP kinase-activating death domain protein isoform 14
NM_001376575.1 NP_001363504.1 MAP kinase-activating death domain protein isoform 15
NM_001376576.1 NP_001363505.1 MAP kinase-activating death domain protein isoform 16
NM_001376577.1 NP_001363506.1 MAP kinase-activating death domain protein isoform 16
NM_001376578.1 NP_001363507.1 MAP kinase-activating death domain protein isoform 17
NM_001376579.1 NP_001363508.1 MAP kinase-activating death domain protein isoform 77
NM_001376580.1 NP_001363509.1 MAP kinase-activating death domain protein isoform 18
NM_001376581.1 NP_001363510.1 MAP kinase-activating death domain protein isoform 19
NM_001376582.1 NP_001363511.1 MAP kinase-activating death domain protein isoform 20
NM_001376583.1 NP_001363512.1 MAP kinase-activating death domain protein isoform 21
NM_001376584.1 NP_001363513.1 MAP kinase-activating death domain protein isoform 1
NM_001376585.1 NP_001363514.1 MAP kinase-activating death domain protein isoform 22
NM_001376586.1 NP_001363515.1 MAP kinase-activating death domain protein isoform 23
NM_001376593.1 NP_001363522.1 MAP kinase-activating death domain protein isoform 24
NM_001376594.1 NP_001363523.1 MAP kinase-activating death domain protein isoform 24
NM_001376595.1 NP_001363524.1 MAP kinase-activating death domain protein isoform 25
NM_001376596.1 NP_001363525.1 MAP kinase-activating death domain protein isoform 76
NM_001376597.1 NP_001363526.1 MAP kinase-activating death domain protein isoform 25
NM_001376598.1 NP_001363527.1 MAP kinase-activating death domain protein isoform 26
NM_001376599.1 NP_001363528.1 MAP kinase-activating death domain protein isoform 27
NM_001376600.1 NP_001363529.1 MAP kinase-activating death domain protein isoform 27
NM_001376601.1 NP_001363530.1 MAP kinase-activating death domain protein isoform 27
NM_001376602.1 NP_001363531.1 MAP kinase-activating death domain protein isoform 28
NM_001376603.1 NP_001363532.1 MAP kinase-activating death domain protein isoform 29
NM_001376604.1 NP_001363533.1 MAP kinase-activating death domain protein isoform 75
NM_001376605.1 NP_001363534.1 MAP kinase-activating death domain protein isoform 30
NM_001376606.1 NP_001363535.1 MAP kinase-activating death domain protein isoform 31
NM_001376607.1 NP_001363536.1 MAP kinase-activating death domain protein isoform 32
NM_001376608.1 NP_001363537.1 MAP kinase-activating death domain protein isoform 33
NM_001376609.1 NP_001363538.1 MAP kinase-activating death domain protein isoform 34
NM_001376610.1 NP_001363539.1 MAP kinase-activating death domain protein isoform 35
NM_001376611.1 NP_001363540.1 MAP kinase-activating death domain protein isoform 36
NM_001376612.1 NP_001363541.1 MAP kinase-activating death domain protein isoform 37
NM_001376613.1 NP_001363542.1 MAP kinase-activating death domain protein isoform 38
NM_001376614.1 NP_001363543.1 MAP kinase-activating death domain protein isoform 38
NM_001376615.1 NP_001363544.1 MAP kinase-activating death domain protein isoform 3
NM_001376616.1 NP_001363545.1 MAP kinase-activating death domain protein isoform 3
NM_001376617.1 NP_001363546.1 MAP kinase-activating death domain protein isoform 39
NM_001376618.1 NP_001363547.1 MAP kinase-activating death domain protein isoform 10
NM_001376619.1 NP_001363548.1 MAP kinase-activating death domain protein isoform 10
NM_001376620.1 NP_001363549.1 MAP kinase-activating death domain protein isoform 40
NM_001376621.1 NP_001363550.1 MAP kinase-activating death domain protein isoform 10
NM_001376622.1 NP_001363551.1 MAP kinase-activating death domain protein isoform 41
NM_001376623.1 NP_001363552.1 MAP kinase-activating death domain protein isoform 41
NM_001376624.1 NP_001363553.1 MAP kinase-activating death domain protein isoform 42
NM_001376625.1 NP_001363554.1 MAP kinase-activating death domain protein isoform 42
NM_001376626.1 NP_001363555.1 MAP kinase-activating death domain protein isoform 43
NM_001376627.1 NP_001363556.1 MAP kinase-activating death domain protein isoform 45
NM_001376628.1 NP_001363557.1 MAP kinase-activating death domain protein isoform 44
NM_001376629.1 NP_001363558.1 MAP kinase-activating death domain protein isoform 46
NM_001376630.1 NP_001363559.1 MAP kinase-activating death domain protein isoform 46
NM_001376631.1 NP_001363560.1 MAP kinase-activating death domain protein isoform 47
NM_001376632.1 NP_001363561.1 MAP kinase-activating death domain protein isoform 48
NM_001376633.1 NP_001363562.1 MAP kinase-activating death domain protein isoform 49
NM_001376634.1 NP_001363563.1 MAP kinase-activating death domain protein isoform 50
NM_001376635.1 NP_001363564.1 MAP kinase-activating death domain protein isoform 51
NM_001376636.1 NP_001363565.1 MAP kinase-activating death domain protein isoform 52
NM_001376637.1 NP_001363566.1 MAP kinase-activating death domain protein isoform 52
NM_001376638.1 NP_001363567.1 MAP kinase-activating death domain protein isoform 53
NM_001376639.1 NP_001363568.1 MAP kinase-activating death domain protein isoform 53
NM_001376640.1 NP_001363569.1 MAP kinase-activating death domain protein isoform 54
NM_001376641.1 NP_001363570.1 MAP kinase-activating death domain protein isoform 55
NM_001376642.1 NP_001363571.1 MAP kinase-activating death domain protein isoform 56
NM_001376643.1 NP_001363572.1 MAP kinase-activating death domain protein isoform 56
NM_001376644.1 NP_001363573.1 MAP kinase-activating death domain protein isoform 57
NM_001376645.1 NP_001363574.1 MAP kinase-activating death domain protein isoform 58
NM_001376646.1 NP_001363575.1 MAP kinase-activating death domain protein isoform 59
NM_001376647.1 NP_001363576.1 MAP kinase-activating death domain protein isoform 60
NM_001376648.1 NP_001363577.1 MAP kinase-activating death domain protein isoform 61
NM_001376649.1 NP_001363578.1 MAP kinase-activating death domain protein isoform 62
NM_001376650.1 NP_001363579.1 MAP kinase-activating death domain protein isoform 63
NM_001376651.1 NP_001363580.1 MAP kinase-activating death domain protein isoform 64
NM_001376652.1 NP_001363581.1 MAP kinase-activating death domain protein isoform 64
NM_001376653.1 NP_001363582.1 MAP kinase-activating death domain protein isoform 65
NM_001376654.1 NP_001363583.1 MAP kinase-activating death domain protein isoform 66
NM_001376655.1 NP_001363584.1 MAP kinase-activating death domain protein isoform 67
NM_001376656.1 NP_001363585.1 MAP kinase-activating death domain protein isoform 78
NM_001376657.1 NP_001363586.1 MAP kinase-activating death domain protein isoform 68
NM_001376658.1 NP_001363587.1 MAP kinase-activating death domain protein isoform 69
NM_001376659.1 NP_001363588.1 MAP kinase-activating death domain protein isoform 70
NM_001376660.1 NP_001363589.1 MAP kinase-activating death domain protein isoform 71
NM_001376661.1 NP_001363590.1 MAP kinase-activating death domain protein isoform 72
NM_001376662.1 NP_001363591.1 MAP kinase-activating death domain protein isoform 73
NM_001376663.1 NP_001363592.1 MAP kinase-activating death domain protein isoform 74
NM_003682.4 NP_003673.3 MAP kinase-activating death domain protein isoform 4
NM_130470.3 NP_569826.2 MAP kinase-activating death domain protein isoform 1
NM_130471.3 NP_569827.2 MAP kinase-activating death domain protein isoform 2
NM_130472.3 NP_569828.2 MAP kinase-activating death domain protein isoform 3
NM_130473.3 NP_569829.2 MAP kinase-activating death domain protein isoform 5
NM_130474.3 NP_569830.2 MAP kinase-activating death domain protein isoform 6
NM_130475.3 NP_569831.1 MAP kinase-activating death domain protein isoform 7
NM_130476.3 NP_569832.2 MAP kinase-activating death domain protein isoform 8
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
20937701 GOA
enables guanyl-nucleotide exchange factor activity IMP
IMP: 通过突变表型推断
9115275 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9115275 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in execution phase of apoptosis IMP
IMP: 通过突变表型推断
14735464 GOA
involved in positive regulation of MAPK cascade IMP
IMP: 通过突变表型推断
9115275 GOA
involved in regulation of Rab protein signal transduction IDA
IDA: 通过直接分析推断
20937701 GOA
involved in regulation of apoptotic process IMP
IMP: 通过突变表型推断
11577081 GOA
involved in regulation of cell cycle IMP
IMP: 通过突变表型推断
14735464 GOA
involved in regulation of extrinsic apoptotic signaling pathway IDA
IDA: 通过直接分析推断
11577081 GOA
involved in regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
IMP: 通过突变表型推断
9115275 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
8988362 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
蛋白主名 其他名称

MAP kinase-activating death domain protein

Rab3 GDP/GTP exchange factor

MADD 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
MADD Q8WXG6 PTPRN Homo sapiens Q16849
Y2H
16273344
种属内
MADD Q8WXG6 PTPRN Homo sapiens Q16849
Anti Tag CoIP
16273344
种属内
MADD Q8WXG6 POT1 Homo sapiens Q9NUX5
Pull Down
21044950
种属间: 跨种属相互作用 种属内: 同种属相互作用

MADD 抗体

目录号 产品名 应用 反应物种
HY-P83113 DENN Antibody (YA2858) WB, IHC-F, IHC-P, ICC/IF Human

关联疾病

疾病名称 别名
Deeah Syndrome

DEEAH

Developmental Delay With Endocrine, Exocrine, Autonomic, And Hematologic Abnormalities

Developmental Delay With Endocrine, Exocrine, Autonomic, And Hematologic Abnormalities Syndrome

Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia

NEDDISH

Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech And Hypotonia

Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Glutaric Aciduria Type 2, Severe Neonatal Type

Mad Deficiency, Severe Neonatal Type

Madd, Severe Neonatal Type

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome

Fibrofolliculomas With Trichodiscomas And Acrochordons

BHD

Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculoma Familial

Bhd Syndrome

Birt Hogg Dube Syndrome

Hornstein-Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculomas

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3

Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2

CMT4B2

Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

Charcot-Marie-Tooth Neuropathy, Type 4b2

Charcot-Marie-Tooth Neuropathy Type 4b2

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

Cmt 4b2

Charcot Marie Tooth Disease Type 4b2

Charcot-Marie-Tooth Disease 4b2

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

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

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

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
Felis catus MADD VGNC VGNC:68128
Macaca mulatta MADD VGNC VGNC:74473
Canis familiaris MADD VGNC VGNC:42917
Bos taurus MADD VGNC VGNC:31134
Rattus norvegicus MADD RGD RGD:619922
Mus musculus MADD MGD MGI:2444672
Others MADD NCBI