MADD - MAP kinase activating death domain Gene

Also Known as DENN; IG20; DEEAH; RabGEF; NEDDISH; RAB3GEP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8567

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	20937701	GOA
enables guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	9115275	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9115275	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in execution phase of apoptosis	IMP IMP: Inferred from mutant phenotype	14735464	GOA
involved in positive regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	9115275	GOA
involved in regulation of Rab protein signal transduction	IDA IDA: Inferred from direct assay	20937701	GOA
involved in regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	11577081	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	14735464	GOA
involved in regulation of extrinsic apoptotic signaling pathway	IDA IDA: Inferred from direct assay	11577081	GOA
involved in regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP IMP: Inferred from mutant phenotype	9115275	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in membrane	IDA IDA: Inferred from direct assay	8988362	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

Protein Preferred Names	Protein Names
MAP kinase-activating death domain protein	Rab3 GDP/GTP exchange factor

MADD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	MADD	Q8WXG6	PTPRN	Homo sapiens	Q16849	Y2H	16273344
Intra	MADD	Q8WXG6	PTPRN	Homo sapiens	Q16849	Anti Tag CoIP	16273344
Intra	MADD	Q8WXG6	POT1	Homo sapiens	Q9NUX5	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

MADD Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83113	DENN Antibody (YA2858)	WB, IHC-P	Human, Mouse, Rat
HY-P83113A	DENN Antibody (YA2858)(PBS only)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-G0016	N-Acetyl dapsone		/	Unkown
HY-RS04555	ETFA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04556	ETFB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04557	ETFDH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07953	MADD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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