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Q8WXG6

- MADD_HUMAN

UniProt

Q8WXG6 - MADD_HUMAN

Protein

MAP kinase-activating death domain protein

Gene

MADD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    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.6 Publications

    GO - Molecular functioni

    1. death receptor binding Source: ProtInc
    2. protein binding Source: UniProtKB
    3. protein kinase activator activity Source: UniProtKB
    4. Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

    GO - Biological processi

    1. activation of MAPK activity Source: UniProtKB
    2. cell surface receptor signaling pathway Source: ProtInc
    3. execution phase of apoptosis Source: UniProtKB
    4. negative regulation of apoptotic signaling pathway Source: Ensembl
    5. positive regulation of Rab GTPase activity Source: GOC
    6. regulation of apoptotic process Source: UniProtKB
    7. regulation of cell cycle Source: UniProtKB
    8. regulation of extrinsic apoptotic signaling pathway Source: UniProtKB
    9. regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
    10. regulation of Rab protein signal transduction Source: FlyBase

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Keywords - Biological processi

    Apoptosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    MAP kinase-activating death domain protein
    Alternative name(s):
    Differentially expressed in normal and neoplastic cells
    Insulinoma glucagonoma clone 20
    Rab3 GDP/GTP exchange factor
    Gene namesi
    Name:MADDImported
    Synonyms:DENNImported, IG20Imported, KIAA0358Imported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:6766. MADD.

    Subcellular locationi

    Membrane 1 Publication. Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc
    2. integral component of membrane Source: UniProtKB
    3. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi603584. gene+phenotype.
    PharmGKBiPA30523.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 16471646MAP kinase-activating death domain proteinBy similarityPRO_0000278138Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei813 – 8131PhosphoserineBy similarity
    Modified residuei818 – 8181Phosphoserine1 Publication
    Modified residuei820 – 8201Phosphoserine1 Publication
    Modified residuei921 – 9211Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8WXG6.
    PaxDbiQ8WXG6.
    PRIDEiQ8WXG6.

    PTM databases

    PhosphoSiteiQ8WXG6.

    Expressioni

    Tissue specificityi

    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.3 Publications

    Gene expression databases

    ArrayExpressiQ8WXG6.
    BgeeiQ8WXG6.
    GenevestigatoriQ8WXG6.

    Organism-specific databases

    HPAiHPA038568.

    Interactioni

    Subunit structurei

    Interacts with the death domain of TNFRSF1A through its own death domain. Interacts with PIDD1.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PTPRNQ168494EBI-310528,EBI-728153

    Protein-protein interaction databases

    BioGridi114136. 7 interactions.
    IntActiQ8WXG6. 5 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WXG6.
    SMRiQ8WXG6. Positions 272-430.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini25 – 9874UDENNAdd
    BLAST
    Domaini172 – 402231DENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini485 – 55874dDENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini1340 – 141576DeathSequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1157 – 125094Ser-richSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the MADD family.Curated
    Contains 1 dDENN domain.PROSITE-ProRule annotation
    Contains 1 death domain.Sequence Analysis
    Contains 1 DENN domain.PROSITE-ProRule annotation
    Contains 1 uDENN domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG326239.
    HOVERGENiHBG079455.
    InParanoidiQ8WXG6.
    OMAiLKFMHSQ.
    OrthoDBiEOG708VXV.
    PhylomeDBiQ8WXG6.
    TreeFamiTF318583.

    Family and domain databases

    InterProiIPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR005113. uDENN_dom.
    [Graphical view]
    PfamiPF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF03456. uDENN. 1 hit.
    [Graphical view]
    SMARTiSM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00800. uDENN. 1 hit.
    [Graphical view]
    PROSITEiPS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50946. UDENN. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q8WXG6-1) [UniParc]FASTAAdd to Basket

    Also known as: IG201 Publication

    , IG20-FL1 Publication

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MVQKKKFCPR LLDYLVIVGA RHPSSDSVAQ TPELLRRYPL EDHTEFPLPP     50
    DVVFFCQPEG CLSVRQRRMS LRDDTSFVFT LTDKDTGVTR YGICVNFYRS 100
    FQKRISKEKG EGGAGSRGKE GTHATCASEE GGTESSESGS SLQPLSADST 150
    PDVNQSPRGK RRAKAGSRSR NSTLTSLCVL SHYPFFSTFR ECLYTLKRLV 200
    DCCSERLLGK KLGIPRGVQR DTMWRIFTGS LLVEEKSSAL LHDLREIEAW 250
    IYRLLRSPVP VSGQKRVDIE VLPQELQPAL TFALPDPSRF TLVDFPLHLP 300
    LELLGVDACL QVLTCILLEH KVVLQSRDYN ALSMSVMAFV AMIYPLEYMF 350
    PVIPLLPTCM ASAEQLLLAP TPYIIGVPAS FFLYKLDFKM PDDVWLVDLD 400
    SNRVIAPTNA EVLPILPEPE SLELKKHLKQ ALASMSLNTQ PILNLEKFHE 450
    GQEIPLLLGR PSNDLQSTPS TEFNPLIYGN DVDSVDVATR VAMVRFFNSA 500
    NVLQGFQMHT RTLRLFPRPV VAFQAGSFLA SRPRQTPFAE KLARTQAVEY 550
    FGEWILNPTN YAFQRIHNNM FDPALIGDKP KWYAHQLQPI HYRVYDSNSQ 600
    LAEALSVPPE RDSDSEPTDD SGSDSMDYDD SSSSYSSLGD FVSEMMKCDI 650
    NGDTPNVDPL THAALGDASE VEIDELQNQK EAEEPGPDSE NSQENPPLRS 700
    SSSTTASSSP STVIHGANSE PADSTEMDDK AAVGVSKPLP SVPPSIGKSN 750
    VDRRQAEIGE GSVRRRIYDN PYFEPQYGFP PEEDEDEQGE SYTPRFSQHV 800
    SGNRAQKLLR PNSLRLASDS DAESDSRASS PNSTVSNTST EGFGGIMSFA 850
    SSLYRNHSTS FSLSNLTLPT KGAREKATPF PSLKVFGLNT LMEIVTEAGP 900
    GSGEGNRRAL VDQKSSVIKH SPTVKREPPS PQGRSSNSSE NQQFLKEVVH 950
    SVLDGQGVGW LNMKKVRRLL ESEQLRVFVL SKLNRMVQSE DDARQDIIPD 1000
    VEISRKVYKG MLDLLKCTVL SLEQSYAHAG LGGMASIFGL LEIAQTHYYS 1050
    KEPDKRKRSP TESVNTPVGK DPGLAGRGDP KAMAQLRVPQ LGPRAPSATG 1100
    KGPKELDTRS LKEENFIASI ELWNKHQEVK KQKALEKQRP EVIKPVFDLG 1150
    ETEEKKSQIS ADSGVSLTSS SQRTDQDSVI GVSPAVMIRS SSQDSEVSTV 1200
    VSNSSGETLG ADSDLSSNAG DGPGGEGSVH LASSRGTLSD SEIETNSATS 1250
    TIFGKAHSLK PSIKEKLAGS PIRTSEDVSQ RVYLYEGLLG RDKGSMWDQL 1300
    EDAAMETFSI SKERSTLWDQ MQFWEDAFLD AVMLEREGMG MDQGPQEMID 1350
    RYLSLGEHDR KRLEDDEDRL LATLLHNLIS YMLLMKVNKN DIRKKVRRLM 1400
    GKSHIGLVYS QQINEVLDQL ANLNGRDLSI WSSGSRHMKK QTFVVHAGTD 1450
    TNGDIFFMEV CDDCVVLRSN IGTVYERWWY EKLINMTYCP KTKVLCLWRR 1500
    NGSETQLNKF YTKKCRELYY CVKDSMERAA ARQQSIKPGP ELGGEFPVQD 1550
    LKTGEGGLLQ VTLEGINLKF MHNQVFIELN HIKKCNTVRG VFVLEEFVPE 1600
    IKEVVSHKYK TPMAHEICYS VLCLFSYVAA VHSSEEDLRT PPRPVSS 1647
    Length:1,647
    Mass (Da):183,303
    Last modified:February 20, 2007 - v2
    Checksum:i2CA9A3519269757E
    GO
    Isoform 21 Publication (identifier: Q8WXG6-2) [UniParc]FASTAAdd to Basket

    Also known as: IG201 Publication

    , IG20-PA1 Publication, IG20-PASV1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         1121-1139: ELWNKHQEVKKQKALEKQR → G
         1291-1311: Missing.

    Show »
    Length:1,608
    Mass (Da):178,558
    Checksum:iFE1C240F2B74E284
    GO
    Isoform 33 Publications (identifier: Q8WXG6-3) [UniParc]FASTAAdd to Basket

    Also known as: DENN2 Publications

    , IG20-SV11 Publication, MADD1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         885-904: Missing.
         1121-1139: ELWNKHQEVKKQKALEKQR → G
         1201-1201: Missing.
         1291-1311: Missing.

    Show »
    Length:1,587
    Mass (Da):176,455
    Checksum:i400BBDE0D2BD704E
    GO
    Isoform 43 Publications (identifier: Q8WXG6-4) [UniParc]FASTAAdd to Basket

    Also known as: IG20-SV21 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         762-804: Missing.
         1121-1139: ELWNKHQEVKKQKALEKQR → G
         1291-1311: Missing.

    Show »
    Length:1,565
    Mass (Da):173,395
    Checksum:iBF80481B41A4E680
    GO
    Isoform 52 Publications (identifier: Q8WXG6-5) [UniParc]FASTAAdd to Basket

    Also known as: DENN-SV1 Publication

    , IG20-SV31 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         762-804: Missing.
         885-904: Missing.
         1121-1139: ELWNKHQEVKKQKALEKQR → G
         1291-1311: Missing.

    Show »
    Length:1,545
    Mass (Da):171,392
    Checksum:i30610743419A2E69
    GO
    Isoform 61 Publication (identifier: Q8WXG6-6) [UniParc]FASTAAdd to Basket

    Also known as: IG20-SV41 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         762-804: Missing.
         885-904: Missing.
         1121-1139: ELWNKHQEVKKQKALEKQR → G
         1291-1311: Missing.
         1575-1582: VFIELNHI → FLKLKKW
         1583-1647: Missing.

    Show »
    Length:1,479
    Mass (Da):164,006
    Checksum:i7D5CECD86F93B07D
    GO
    Isoform 71 Publication (identifier: Q8WXG6-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1575-1582: VFIELNHI → FLKLKKW
         1583-1647: Missing.

    Show »
    Length:1,581
    Mass (Da):175,917
    Checksum:i8E2F7CD03C349AC5
    GO
    Isoform 8 (identifier: Q8WXG6-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         762-804: Missing.
         885-904: Missing.
         1121-1139: ELWNKHQEVKKQKALEKQR → G
         1197-1200: Missing.
         1291-1311: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,541
    Mass (Da):171,006
    Checksum:iF717C904CE01ADE1
    GO

    Sequence cautioni

    The sequence BAA20814.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti108 – 1081E → G in AAL40265. (PubMed:11577081)Curated
    Sequence conflicti108 – 1081E → G in AAL40266. (PubMed:11577081)Curated
    Sequence conflicti108 – 1081E → G in AAL40267. (PubMed:11577081)Curated
    Sequence conflicti108 – 1081E → G in AAL40268. (PubMed:11577081)Curated
    Sequence conflicti108 – 1081E → G in AAL35261. (PubMed:11577081)Curated
    Sequence conflicti145 – 1451L → F in AAL40265. (PubMed:11577081)Curated
    Sequence conflicti145 – 1451L → F in AAL40266. (PubMed:11577081)Curated
    Sequence conflicti145 – 1451L → F in AAL40267. (PubMed:11577081)Curated
    Sequence conflicti145 – 1451L → F in AAL40268. (PubMed:11577081)Curated
    Sequence conflicti145 – 1451L → F in AAL35261. (PubMed:11577081)Curated
    Sequence conflicti205 – 2051E → G in BAF85131. (PubMed:14702039)Curated
    Sequence conflicti312 – 3121V → L in AAL40265. (PubMed:11577081)Curated
    Sequence conflicti312 – 3121V → L in AAL40266. (PubMed:11577081)Curated
    Sequence conflicti312 – 3121V → L in AAL40267. (PubMed:11577081)Curated
    Sequence conflicti312 – 3121V → L in AAL40268. (PubMed:11577081)Curated
    Sequence conflicti312 – 3121V → L in AAL35261. (PubMed:11577081)Curated
    Sequence conflicti482 – 4821V → A in AAL40265. (PubMed:11577081)Curated
    Sequence conflicti482 – 4821V → A in AAL40266. (PubMed:11577081)Curated
    Sequence conflicti482 – 4821V → A in AAL40267. (PubMed:11577081)Curated
    Sequence conflicti482 – 4821V → A in AAL40268. (PubMed:11577081)Curated
    Sequence conflicti482 – 4821V → A in AAL35261. (PubMed:11577081)Curated
    Sequence conflicti500 – 5001A → V in BAF85131. (PubMed:14702039)Curated
    Sequence conflicti1262 – 12621S → C in AAL40265. (PubMed:11577081)Curated
    Sequence conflicti1262 – 12621S → C in AAL40266. (PubMed:11577081)Curated
    Sequence conflicti1262 – 12621S → C in AAL40267. (PubMed:11577081)Curated
    Sequence conflicti1262 – 12621S → C in AAL40268. (PubMed:11577081)Curated
    Sequence conflicti1262 – 12621S → C in AAL35261. (PubMed:11577081)Curated
    Sequence conflicti1592 – 15921F → S in BAF85131. (PubMed:14702039)Curated
    Sequence conflicti1639 – 16391R → G in BAF85131. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti696 – 6961P → T.1 Publication
    Corresponds to variant rs17854007 [ dbSNP | Ensembl ].
    VAR_030666
    Natural varianti751 – 7511V → M.1 Publication
    Corresponds to variant rs1051006 [ dbSNP | Ensembl ].
    VAR_030667
    Natural varianti765 – 7651R → Q.
    Corresponds to variant rs3736101 [ dbSNP | Ensembl ].
    VAR_051148
    Natural varianti968 – 9681R → G.1 Publication
    Corresponds to variant rs17854008 [ dbSNP | Ensembl ].
    VAR_030668
    Natural varianti1040 – 10401L → F.1 Publication
    Corresponds to variant rs17854009 [ dbSNP | Ensembl ].
    VAR_030669
    Natural varianti1518 – 15181L → P.
    Corresponds to variant rs34534575 [ dbSNP | Ensembl ].
    VAR_051149

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei762 – 80443Missing in isoform 4, isoform 5, isoform 6 and isoform 8. 5 PublicationsVSP_052293Add
    BLAST
    Alternative sequencei885 – 90420Missing in isoform 3, isoform 5, isoform 6 and isoform 8. 6 PublicationsVSP_052294Add
    BLAST
    Alternative sequencei1121 – 113919ELWNK…LEKQR → G in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsVSP_052295Add
    BLAST
    Alternative sequencei1197 – 12004Missing in isoform 8. 1 PublicationVSP_044848
    Alternative sequencei1201 – 12011Missing in isoform 3. 3 PublicationsVSP_055676
    Alternative sequencei1291 – 131121Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsVSP_052296Add
    BLAST
    Alternative sequencei1575 – 15828VFIELNHI → FLKLKKW in isoform 6 and isoform 7. 2 PublicationsVSP_052297
    Alternative sequencei1583 – 164765Missing in isoform 6 and isoform 7. 2 PublicationsVSP_052298Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U44953 mRNA. Translation: AAD12154.1.
    U77352 mRNA. Translation: AAB57735.1.
    AF440100 mRNA. Translation: AAL40265.1.
    AF440101 mRNA. Translation: AAL40266.1.
    AF440102 mRNA. Translation: AAL40267.1.
    AF440103 mRNA. Translation: AAL40268.1.
    AF440434 mRNA. Translation: AAL35261.1.
    AB002356 mRNA. Translation: BAA20814.2. Different initiation.
    AK292442 mRNA. Translation: BAF85131.1.
    AC018410 Genomic DNA. No translation available.
    AC090582 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW67931.1.
    CH471064 Genomic DNA. Translation: EAW67932.1.
    BC040484 mRNA. Translation: AAH40484.1.
    CCDSiCCDS41642.1. [Q8WXG6-7]
    CCDS44587.1. [Q8WXG6-4]
    CCDS44588.1. [Q8WXG6-5]
    CCDS44589.1. [Q8WXG6-8]
    CCDS44590.1. [Q8WXG6-6]
    CCDS7930.1. [Q8WXG6-1]
    CCDS7931.1. [Q8WXG6-3]
    CCDS7932.1. [Q8WXG6-2]
    RefSeqiNP_001129415.1. NM_001135943.1.
    NP_001129416.1. NM_001135944.1. [Q8WXG6-8]
    NP_003673.3. NM_003682.3. [Q8WXG6-1]
    NP_569826.2. NM_130470.2. [Q8WXG6-3]
    NP_569827.2. NM_130471.2. [Q8WXG6-4]
    NP_569828.2. NM_130472.2. [Q8WXG6-5]
    NP_569829.2. NM_130473.2. [Q8WXG6-2]
    NP_569830.2. NM_130474.2. [Q8WXG6-6]
    NP_569831.1. NM_130475.2. [Q8WXG6-7]
    NP_569832.2. NM_130476.2.
    XP_005253246.1. XM_005253189.1. [Q8WXG6-1]
    XP_005253253.1. XM_005253196.1. [Q8WXG6-2]
    XP_005253256.1. XM_005253199.1. [Q8WXG6-3]
    XP_005253258.1. XM_005253201.1. [Q8WXG6-4]
    XP_005253260.1. XM_005253203.1. [Q8WXG6-5]
    XP_005253261.1. XM_005253204.1. [Q8WXG6-8]
    XP_005253262.1. XM_005253205.1. [Q8WXG6-6]
    UniGeneiHs.82548.

    Genome annotation databases

    EnsembliENST00000311027; ENSP00000310933; ENSG00000110514. [Q8WXG6-1]
    ENST00000349238; ENSP00000304505; ENSG00000110514. [Q8WXG6-2]
    ENST00000395336; ENSP00000378745; ENSG00000110514. [Q8WXG6-7]
    ENST00000395344; ENSP00000378753; ENSG00000110514. [Q8WXG6-8]
    ENST00000402192; ENSP00000384287; ENSG00000110514. [Q8WXG6-3]
    ENST00000402799; ENSP00000385585; ENSG00000110514. [Q8WXG6-5]
    ENST00000406482; ENSP00000384435; ENSG00000110514. [Q8WXG6-6]
    ENST00000407859; ENSP00000384204; ENSG00000110514. [Q8WXG6-4]
    GeneIDi8567.
    KEGGihsa:8567.
    UCSCiuc001neq.2. human. [Q8WXG6-3]
    uc001ner.1. human. [Q8WXG6-1]
    uc001nes.1. human. [Q8WXG6-4]
    uc001net.1. human. [Q8WXG6-2]
    uc001neu.1. human. [Q8WXG6-5]
    uc001nev.1. human. [Q8WXG6-6]
    uc001nex.2. human. [Q8WXG6-7]

    Polymorphism databases

    DMDMi126215742.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U44953 mRNA. Translation: AAD12154.1 .
    U77352 mRNA. Translation: AAB57735.1 .
    AF440100 mRNA. Translation: AAL40265.1 .
    AF440101 mRNA. Translation: AAL40266.1 .
    AF440102 mRNA. Translation: AAL40267.1 .
    AF440103 mRNA. Translation: AAL40268.1 .
    AF440434 mRNA. Translation: AAL35261.1 .
    AB002356 mRNA. Translation: BAA20814.2 . Different initiation.
    AK292442 mRNA. Translation: BAF85131.1 .
    AC018410 Genomic DNA. No translation available.
    AC090582 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW67931.1 .
    CH471064 Genomic DNA. Translation: EAW67932.1 .
    BC040484 mRNA. Translation: AAH40484.1 .
    CCDSi CCDS41642.1. [Q8WXG6-7 ]
    CCDS44587.1. [Q8WXG6-4 ]
    CCDS44588.1. [Q8WXG6-5 ]
    CCDS44589.1. [Q8WXG6-8 ]
    CCDS44590.1. [Q8WXG6-6 ]
    CCDS7930.1. [Q8WXG6-1 ]
    CCDS7931.1. [Q8WXG6-3 ]
    CCDS7932.1. [Q8WXG6-2 ]
    RefSeqi NP_001129415.1. NM_001135943.1.
    NP_001129416.1. NM_001135944.1. [Q8WXG6-8 ]
    NP_003673.3. NM_003682.3. [Q8WXG6-1 ]
    NP_569826.2. NM_130470.2. [Q8WXG6-3 ]
    NP_569827.2. NM_130471.2. [Q8WXG6-4 ]
    NP_569828.2. NM_130472.2. [Q8WXG6-5 ]
    NP_569829.2. NM_130473.2. [Q8WXG6-2 ]
    NP_569830.2. NM_130474.2. [Q8WXG6-6 ]
    NP_569831.1. NM_130475.2. [Q8WXG6-7 ]
    NP_569832.2. NM_130476.2.
    XP_005253246.1. XM_005253189.1. [Q8WXG6-1 ]
    XP_005253253.1. XM_005253196.1. [Q8WXG6-2 ]
    XP_005253256.1. XM_005253199.1. [Q8WXG6-3 ]
    XP_005253258.1. XM_005253201.1. [Q8WXG6-4 ]
    XP_005253260.1. XM_005253203.1. [Q8WXG6-5 ]
    XP_005253261.1. XM_005253204.1. [Q8WXG6-8 ]
    XP_005253262.1. XM_005253205.1. [Q8WXG6-6 ]
    UniGenei Hs.82548.

    3D structure databases

    ProteinModelPortali Q8WXG6.
    SMRi Q8WXG6. Positions 272-430.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114136. 7 interactions.
    IntActi Q8WXG6. 5 interactions.

    PTM databases

    PhosphoSitei Q8WXG6.

    Polymorphism databases

    DMDMi 126215742.

    Proteomic databases

    MaxQBi Q8WXG6.
    PaxDbi Q8WXG6.
    PRIDEi Q8WXG6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311027 ; ENSP00000310933 ; ENSG00000110514 . [Q8WXG6-1 ]
    ENST00000349238 ; ENSP00000304505 ; ENSG00000110514 . [Q8WXG6-2 ]
    ENST00000395336 ; ENSP00000378745 ; ENSG00000110514 . [Q8WXG6-7 ]
    ENST00000395344 ; ENSP00000378753 ; ENSG00000110514 . [Q8WXG6-8 ]
    ENST00000402192 ; ENSP00000384287 ; ENSG00000110514 . [Q8WXG6-3 ]
    ENST00000402799 ; ENSP00000385585 ; ENSG00000110514 . [Q8WXG6-5 ]
    ENST00000406482 ; ENSP00000384435 ; ENSG00000110514 . [Q8WXG6-6 ]
    ENST00000407859 ; ENSP00000384204 ; ENSG00000110514 . [Q8WXG6-4 ]
    GeneIDi 8567.
    KEGGi hsa:8567.
    UCSCi uc001neq.2. human. [Q8WXG6-3 ]
    uc001ner.1. human. [Q8WXG6-1 ]
    uc001nes.1. human. [Q8WXG6-4 ]
    uc001net.1. human. [Q8WXG6-2 ]
    uc001neu.1. human. [Q8WXG6-5 ]
    uc001nev.1. human. [Q8WXG6-6 ]
    uc001nex.2. human. [Q8WXG6-7 ]

    Organism-specific databases

    CTDi 8567.
    GeneCardsi GC11P047290.
    HGNCi HGNC:6766. MADD.
    HPAi HPA038568.
    MIMi 603584. gene+phenotype.
    neXtProti NX_Q8WXG6.
    PharmGKBi PA30523.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326239.
    HOVERGENi HBG079455.
    InParanoidi Q8WXG6.
    OMAi LKFMHSQ.
    OrthoDBi EOG708VXV.
    PhylomeDBi Q8WXG6.
    TreeFami TF318583.

    Miscellaneous databases

    ChiTaRSi MADD. human.
    GeneWikii MADD_(gene).
    GenomeRNAii 8567.
    NextBioi 32121.
    PROi Q8WXG6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WXG6.
    Bgeei Q8WXG6.
    Genevestigatori Q8WXG6.

    Family and domain databases

    InterProi IPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR005113. uDENN_dom.
    [Graphical view ]
    Pfami PF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF03456. uDENN. 1 hit.
    [Graphical view ]
    SMARTi SM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00800. uDENN. 1 hit.
    [Graphical view ]
    PROSITEi PS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50946. UDENN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "DENN, a novel human gene differentially expressed in normal and neoplastic cells."
      Chow V.T.K., Lee S.S.
      DNA Seq. 6:263-273(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Fetal liverImported.
    2. "MADD, a novel death domain protein that interacts with the type 1 tumor necrosis factor receptor and activates mitogen-activated protein kinase."
      Schievella A.R., Chen J.H., Graham J.R., Lin L.-L.
      J. Biol. Chem. 272:12069-12075(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, INTERACTION WITH TNFRSF1A, VARIANT MET-751.
    3. "The human DENN gene: genomic organization, alternative splicing, and localization to chromosome 11p11.21-p11.22."
      Chow V.T.K., Lim K.M., Lim D.
      Genome 41:543-552(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), TISSUE SPECIFICITY.
      Tissue: LiverImported.
    4. "Contrasting effects of IG20 and its splice isoforms, MADD and DENN-SV, on tumor necrosis factor alpha-induced apoptosis and activation of caspase-8 and -3."
      Al-Zoubi A.M., Efimova E.V., Kaithamana S., Martinez O., El-Azami El-Idrissi M., Dogan R.E., Prabhakar B.S.
      J. Biol. Chem. 276:47202-47211(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 4; 5 AND 6), FUNCTION, INTERACTION WITH TNFRSF1A.
      Tissue: Insulinoma1 Publication.
    5. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
      Tissue: BrainImported.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 8).
      Tissue: Testis.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANTS THR-696; GLY-968 AND PHE-1040.
      Tissue: TestisImported.
    10. "LRDD, a novel leucine rich repeat and death domain containing protein."
      Telliez J.-B., Bean K.M., Lin L.-L.
      Biochim. Biophys. Acta 1478:280-288(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PIDD1.
    11. "Antisense abrogation of DENN expression induces apoptosis of leukemia cells in vitro, causes tumor regression in vivo and alters the transcription of genes involved in apoptosis and the cell cycle."
      Lim K.M., Yeo W.S., Chow V.T.K.
      Int. J. Cancer 109:24-37(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. "IG20, in contrast to DENN-SV, (MADD splice variants) suppresses tumor cell survival, and enhances their susceptibility to apoptosis and cancer drugs."
      Efimova E.V., Al-Zoubi A.M., Martinez O., Kaithamana S., Lu S., Arima T., Prabhakar B.S.
      Oncogene 23:1076-1087(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING, FUNCTION, TISSUE SPECIFICITY.
    13. "Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons."
      Del Villar K., Miller C.A.
      Proc. Natl. Acad. Sci. U.S.A. 101:4210-4215(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    14. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-818; SER-820 AND SER-921, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    18. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."
      Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.
      J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.
    19. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    20. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMADD_HUMAN
    AccessioniPrimary (citable) accession number: Q8WXG6
    Secondary accession number(s): A8K8S7
    , B5MEE5, D3DQR4, O15065, O15293, Q15732, Q15741, Q8IWD7, Q8WXG3, Q8WXG4, Q8WXG5, Q8WZ63
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 20, 2007
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 91 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Overexpression of MADD activates the mitogen-activated protein (MAP) kinase extracellular signal-regulated kinase (ERK). Expression of the MADD death domain stimulates both the ERK and c-JUN N-terminal kinase MAP kinases and induces the phosphorylation of cytosolic phospholipase A2.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3