• Gene id: 8567

Gene Summary

• Gene Symbol: MADD   Gene   UCSC   Ensembl
• Aliases: DENN, IG20, RAB3GEP
• Gene name: MAP kinase activating death domain
• Alternate names: MAP kinase-activating death domain protein, Rab3 GDP/GTP exchange factor, differentially expressed in normal and neoplastic cells, insulinoma glucagonoma clone 20,
• Gene location: 11p11.2 (47269187: 47330030)     Exons: 42     NC_000011.10
• Gene summary(Entrez): 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 ge

Protein Summary

• Protein general information: Q8WXG6  
  • Name: MAP kinase activating death domain protein (Differentially expressed in normal and neoplastic cells) (Insulinoma glucagonoma clone 20) (Rab3 GDP/GTP exchange factor)
  • Length: 1647  
  • Mass: 183303
  • 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
• Sequence:

  MVQKKKFCPRLLDYLVIVGARHPSSDSVAQTPELLRRYPLEDHTEFPLPPDVVFFCQPEGCLSVRQRRMSLRDDT
  SFVFTLTDKDTGVTRYGICVNFYRSFQKRISKEKGEGGAGSRGKEGTHATCASEEGGTESSESGSSLQPLSADST
  PDVNQSPRGKRRAKAGSRSRNSTLTSLCVLSHYPFFSTFRECLYTLKRLVDCCSERLLGKKLGIPRGVQRDTMWR
  IFTGSLLVEEKSSALLHDLREIEAWIYRLLRSPVPVSGQKRVDIEVLPQELQPALTFALPDPSRFTLVDFPLHLP
  LELLGVDACLQVLTCILLEHKVVLQSRDYNALSMSVMAFVAMIYPLEYMFPVIPLLPTCMASAEQLLLAPTPYII
  GVPASFFLYKLDFKMPDDVWLVDLDSNRVIAPTNAEVLPILPEPESLELKKHLKQALASMSLNTQPILNLEKFHE
  GQEIPLLLGRPSNDLQSTPSTEFNPLIYGNDVDSVDVATRVAMVRFFNSANVLQGFQMHTRTLRLFPRPVVAFQA
  GSFLASRPRQTPFAEKLARTQAVEYFGEWILNPTNYAFQRIHNNMFDPALIGDKPKWYAHQLQPIHYRVYDSNSQ
  LAEALSVPPERDSDSEPTDDSGSDSMDYDDSSSSYSSLGDFVSEMMKCDINGDTPNVDPLTHAALGDASEVEIDE
  LQNQKEAEEPGPDSENSQENPPLRSSSSTTASSSPSTVIHGANSEPADSTEMDDKAAVGVSKPLPSVPPSIGKSN
  VDRRQAEIGEGSVRRRIYDNPYFEPQYGFPPEEDEDEQGESYTPRFSQHVSGNRAQKLLRPNSLRLASDSDAESD
  SRASSPNSTVSNTSTEGFGGIMSFASSLYRNHSTSFSLSNLTLPTKGAREKATPFPSLKVFGLNTLMEIVTEAGP
  GSGEGNRRALVDQKSSVIKHSPTVKREPPSPQGRSSNSSENQQFLKEVVHSVLDGQGVGWLNMKKVRRLLESEQL
  RVFVLSKLNRMVQSEDDARQDIIPDVEISRKVYKGMLDLLKCTVLSLEQSYAHAGLGGMASIFGLLEIAQTHYYS
  KEPDKRKRSPTESVNTPVGKDPGLAGRGDPKAMAQLRVPQLGPRAPSATGKGPKELDTRSLKEENFIASIELWNK
  HQEVKKQKALEKQRPEVIKPVFDLGETEEKKSQISADSGVSLTSSSQRTDQDSVIGVSPAVMIRSSSQDSEVSTV
  VSNSSGETLGADSDLSSNAGDGPGGEGSVHLASSRGTLSDSEIETNSATSTIFGKAHSLKPSIKEKLAGSPIRTS
  EDVSQRVYLYEGLLGRDKGSMWDQLEDAAMETFSISKERSTLWDQMQFWEDAFLDAVMLEREGMGMDQGPQEMID
  RYLSLGEHDRKRLEDDEDRLLATLLHNLISYMLLMKVNKNDIRKKVRRLMGKSHIGLVYSQQINEVLDQLANLNG
  RDLSIWSSGSRHMKKQTFVVHAGTDTNGDIFFMEVCDDCVVLRSNIGTVYERWWYEKLINMTYCPKTKVLCLWRR
  NGSETQLNKFYTKKCRELYYCVKDSMERAAARQQSIKPGPELGGEFPVQDLKTGEGGLLQVTLEGINLKFMHNQV
  FIELNHIKKCNTVRGVFVLEEFVPEIKEVVSHKYKTPMAHEICYSVLCLFSYVAAVHSSEEDLRTPPRPVSS

• Structural information:
  • Protein Domains: (14..26-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (289..42-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (431..56-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (-)
  • Interpro: IPR001194  IPR005112  IPR039980  IPR037516  IPR005113  
  • Prosite: PS50211
  • STRING: ENSP00000310933
• Other Databases: GeneCards:  MADD  Malacards:  MADD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0032483	regulation of Rab protein signal transduction	IBA	biological process
GO:1902041	regulation of extrinsic apoptotic signaling pathway via death domain receptors	IBA	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005123	death receptor binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0032483	regulation of Rab protein signal transduction	IDA	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:2001236	regulation of extrinsic apoptotic signaling pathway	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0097194	execution phase of apoptosis	IMP	biological process
GO:0042981	regulation of apoptotic process	IMP	biological process
GO:1902041	regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0051726	regulation of cell cycle	IMP	biological process
GO:0030295	protein kinase activator activity	TAS	molecular function
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray