Homo sapiens Protein: MADD
Summary
InnateDB Protein IDBP-239665.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MADD
Protein Name MAP-kinase activating death domain
Synonyms DENN; IG20; RAB3GEP;
Species Homo sapiens
Ensembl Protein ENSP00000378745
InnateDB Gene IDBG-42977 (MADD)
Protein Structure
UniProt Annotation
Function Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect. {ECO:0000269PubMed:11577081, ECO:0000269PubMed:14716293, ECO:0000269PubMed:14735464, ECO:0000269PubMed:15007167, ECO:0000269PubMed:20937701, ECO:0000269PubMed:9115275}.
Subcellular Localization Membrane {ECO:0000269PubMed:8988362}. Cytoplasm {ECO:0000269PubMed:8988362}.
Disease Associations
Tissue Specificity Highly expressed in fetal brain and kidney; adult testis, ovary, brain and heart. Isoform 5 is constitutively expressed in all tissues. Isoform 7 is expressed in fetal liver and in several cancer cell lines. {ECO:0000269PubMed:14716293, ECO:0000269PubMed:8988362, ECO:0000269PubMed:9796103}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 7 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005123 death receptor binding
GO:0005515 protein binding
GO:0017112 Rab guanyl-nucleotide exchange factor activity
GO:0030295 protein kinase activator activity
Biological Process
GO:0000187 activation of MAPK activity
GO:0007166 cell surface receptor signaling pathway
GO:0032483 regulation of Rab protein signal transduction
GO:0032851 positive regulation of Rab GTPase activity
GO:0042981 regulation of apoptotic process
GO:0051726 regulation of cell cycle
GO:0097194 execution phase of apoptosis
GO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001236 regulation of extrinsic apoptotic signaling pathway
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR001194 DENN domain
IPR005112 dDENN domain
IPR005113 uDENN domain
PFAM PF02141
PF03455
PF03456
PRINTS
PIRSF
SMART SM00799
SM00801
SM00800
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WXG6
PhosphoSite PhosphoSite-Q8WXG6
TrEMBL Q7KYV8
UniProt Splice Variant
Entrez Gene 8567
UniGene Hs.82548
RefSeq NP_569831
HUGO HGNC:6766
OMIM 603584
CCDS CCDS41642
HPRD 04664
IMGT
EMBL AB002356 AC018410 AC090582 AF440100 AF440101 AF440102 AF440103 AF440434 AK292442 BC040484 CH471064 U44953 U48254 U77352
GenPept AAB05595 AAB57735 AAD12154 AAH40484 AAL35261 AAL40265 AAL40266 AAL40267 AAL40268 BAA20814 BAF85131 EAW67931 EAW67932