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Q8WXG6 (MADD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MADD
Synonyms:DENN, IG20, KIAA0358
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1647 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.2 Ref.4 Ref.11 Ref.12 Ref.13 Ref.18

Subunit structure

Interacts with the death domain of TNFRSF1A through its own death domain. Interacts with PIDD1. Ref.2 Ref.4 Ref.10

Subcellular location

Membrane. Cytoplasm Ref.1.

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. Ref.1 Ref.3 Ref.12

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. Ref.2

Sequence similarities

Belongs to the MADD family.

Contains 1 dDENN domain.

Contains 1 death domain.

Contains 1 DENN domain.

Contains 1 uDENN domain.

Sequence caution

The sequence BAA20814.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processApoptosis
   Cellular componentCytoplasm
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionGuanine-nucleotide releasing factor
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactivation of MAPK activity

Inferred from mutant phenotype Ref.2. Source: UniProtKB

cell surface receptor signaling pathway

Traceable author statement Ref.2. Source: ProtInc

execution phase of apoptosis

Inferred from mutant phenotype Ref.11. Source: UniProtKB

negative regulation of apoptotic signaling pathway

Inferred from electronic annotation. Source: Ensembl

regulation of Rab GTPase activity

Inferred from direct assay Ref.18. Source: GOC

regulation of Rab protein signal transduction

Inferred from direct assay Ref.18. Source: FlyBase

regulation of apoptotic process

Inferred from mutant phenotype Ref.4. Source: UniProtKB

regulation of cell cycle

Inferred from mutant phenotype Ref.11. Source: UniProtKB

regulation of extrinsic apoptotic signaling pathway

Inferred from direct assay Ref.4. Source: UniProtKB

regulation of extrinsic apoptotic signaling pathway via death domain receptors

Inferred from mutant phenotype Ref.2. Source: UniProtKB

   Cellular_componentcytoplasm

Traceable author statement Ref.1. Source: ProtInc

integral component of membrane

Inferred from direct assay Ref.1. Source: UniProtKB

plasma membrane

Inferred from direct assay. Source: HPA

   Molecular_functionRab guanyl-nucleotide exchange factor activity

Inferred from direct assay Ref.18. Source: UniProtKB

death receptor binding

Traceable author statement Ref.2. Source: ProtInc

protein binding

Inferred from physical interaction Ref.2. Source: UniProtKB

protein kinase activator activity

Traceable author statement Ref.2. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PTPRNQ168494EBI-310528,EBI-728153

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.4 (identifier: Q8WXG6-1)

Also known as: IG20; IG20-FL;

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.
Isoform 2 Ref.4 (identifier: Q8WXG6-2)

Also known as: IG20; IG20-PA; IG20-PASV;

The sequence of this isoform differs from the canonical sequence as follows:
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1291-1311: Missing.
Isoform 3 Ref.1 Ref.2 Ref.3 (identifier: Q8WXG6-3)

Also known as: DENN; IG20-SV1; MADD;

The sequence of this isoform differs from the canonical sequence as follows:
     885-904: Missing.
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1291-1311: Missing.
Isoform 4 Ref.1 Ref.3 Ref.4 (identifier: Q8WXG6-4)

Also known as: IG20-SV2;

The sequence of this isoform differs from the canonical sequence as follows:
     762-804: Missing.
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1291-1311: Missing.
Isoform 5 Ref.4 Ref.9 (identifier: Q8WXG6-5)

Also known as: DENN-SV; IG20-SV3;

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.
Isoform 6 Ref.4 (identifier: Q8WXG6-6)

Also known as: IG20-SV4;

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.
Isoform 7 Ref.5 (identifier: Q8WXG6-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1575-1582: VFIELNHI → FLKLKKW
     1583-1647: Missing.
Isoform 8 (identifier: Q8WXG6-8)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity UniProtKB O08873
Chain2 – 16471646MAP kinase-activating death domain protein UniProtKB O08873
PRO_0000278138

Regions

Domain25 – 9874UDENN
Domain172 – 402231DENN
Domain485 – 55874dDENN
Domain1340 – 141576Death
Compositional bias1157 – 125094Ser-rich

Amino acid modifications

Modified residue8131Phosphoserine By similarity
Modified residue8181Phosphoserine Ref.15
Modified residue8201Phosphoserine Ref.15
Modified residue9211Phosphoserine Ref.15

Natural variations

Alternative sequence762 – 80443Missing in isoform 4, isoform 5, isoform 6 and isoform 8. Ref.1 Ref.3 Ref.4 Ref.9
VSP_052293
Alternative sequence885 – 90420Missing in isoform 3, isoform 5, isoform 6 and isoform 8. Ref.1 Ref.2 Ref.3 Ref.4 Ref.9
VSP_052294
Alternative sequence1121 – 113919ELWNK…LEKQR → G in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. Ref.1 Ref.2 Ref.3 Ref.4 Ref.9
VSP_052295
Alternative sequence1197 – 12004Missing in isoform 8.
VSP_044848
Alternative sequence1291 – 131121Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. Ref.1 Ref.2 Ref.3 Ref.4 Ref.9
VSP_052296
Alternative sequence1575 – 15828VFIELNHI → FLKLKKW in isoform 6 and isoform 7. Ref.4 Ref.5
VSP_052297
Alternative sequence1583 – 164765Missing in isoform 6 and isoform 7. Ref.4 Ref.5
VSP_052298
Natural variant6961P → T. Ref.9
Corresponds to variant rs17854007 [ dbSNP | Ensembl ].
VAR_030666
Natural variant7511V → M. Ref.2
Corresponds to variant rs1051006 [ dbSNP | Ensembl ].
VAR_030667
Natural variant7651R → Q.
Corresponds to variant rs3736101 [ dbSNP | Ensembl ].
VAR_051148
Natural variant9681R → G. Ref.9
Corresponds to variant rs17854008 [ dbSNP | Ensembl ].
VAR_030668
Natural variant10401L → F. Ref.9
Corresponds to variant rs17854009 [ dbSNP | Ensembl ].
VAR_030669
Natural variant15181L → P.
Corresponds to variant rs34534575 [ dbSNP | Ensembl ].
VAR_051149

Experimental info

Sequence conflict1081E → G in AAL40265. Ref.4
Sequence conflict1081E → G in AAL40266. Ref.4
Sequence conflict1081E → G in AAL40267. Ref.4
Sequence conflict1081E → G in AAL40268. Ref.4
Sequence conflict1081E → G in AAL35261. Ref.4
Sequence conflict1451L → F in AAL40265. Ref.4
Sequence conflict1451L → F in AAL40266. Ref.4
Sequence conflict1451L → F in AAL40267. Ref.4
Sequence conflict1451L → F in AAL40268. Ref.4
Sequence conflict1451L → F in AAL35261. Ref.4
Sequence conflict2051E → G in BAF85131. Ref.6
Sequence conflict3121V → L in AAL40265. Ref.4
Sequence conflict3121V → L in AAL40266. Ref.4
Sequence conflict3121V → L in AAL40267. Ref.4
Sequence conflict3121V → L in AAL40268. Ref.4
Sequence conflict3121V → L in AAL35261. Ref.4
Sequence conflict4821V → A in AAL40265. Ref.4
Sequence conflict4821V → A in AAL40266. Ref.4
Sequence conflict4821V → A in AAL40267. Ref.4
Sequence conflict4821V → A in AAL40268. Ref.4
Sequence conflict4821V → A in AAL35261. Ref.4
Sequence conflict5001A → V in BAF85131. Ref.6
Sequence conflict12011Missing in AAD12154. Ref.1
Sequence conflict12011Missing in AAH40484. Ref.8
Sequence conflict12621S → C in AAL40265. Ref.4
Sequence conflict12621S → C in AAL40266. Ref.4
Sequence conflict12621S → C in AAL40267. Ref.4
Sequence conflict12621S → C in AAL40268. Ref.4
Sequence conflict12621S → C in AAL35261. Ref.4
Sequence conflict15921F → S in BAF85131. Ref.6
Sequence conflict16391R → G in BAF85131. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (IG20) (IG20-FL) [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: 2CA9A3519269757E

FASTA1,647183,303
        10         20         30         40         50         60 
MVQKKKFCPR LLDYLVIVGA RHPSSDSVAQ TPELLRRYPL EDHTEFPLPP DVVFFCQPEG 

        70         80         90        100        110        120 
CLSVRQRRMS LRDDTSFVFT LTDKDTGVTR YGICVNFYRS FQKRISKEKG EGGAGSRGKE 

       130        140        150        160        170        180 
GTHATCASEE GGTESSESGS SLQPLSADST PDVNQSPRGK RRAKAGSRSR NSTLTSLCVL 

       190        200        210        220        230        240 
SHYPFFSTFR ECLYTLKRLV DCCSERLLGK KLGIPRGVQR DTMWRIFTGS LLVEEKSSAL 

       250        260        270        280        290        300 
LHDLREIEAW IYRLLRSPVP VSGQKRVDIE VLPQELQPAL TFALPDPSRF TLVDFPLHLP 

       310        320        330        340        350        360 
LELLGVDACL QVLTCILLEH KVVLQSRDYN ALSMSVMAFV AMIYPLEYMF PVIPLLPTCM 

       370        380        390        400        410        420 
ASAEQLLLAP TPYIIGVPAS FFLYKLDFKM PDDVWLVDLD SNRVIAPTNA EVLPILPEPE 

       430        440        450        460        470        480 
SLELKKHLKQ ALASMSLNTQ PILNLEKFHE GQEIPLLLGR PSNDLQSTPS TEFNPLIYGN 

       490        500        510        520        530        540 
DVDSVDVATR VAMVRFFNSA NVLQGFQMHT RTLRLFPRPV VAFQAGSFLA SRPRQTPFAE 

       550        560        570        580        590        600 
KLARTQAVEY FGEWILNPTN YAFQRIHNNM FDPALIGDKP KWYAHQLQPI HYRVYDSNSQ 

       610        620        630        640        650        660 
LAEALSVPPE RDSDSEPTDD SGSDSMDYDD SSSSYSSLGD FVSEMMKCDI NGDTPNVDPL 

       670        680        690        700        710        720 
THAALGDASE VEIDELQNQK EAEEPGPDSE NSQENPPLRS SSSTTASSSP STVIHGANSE 

       730        740        750        760        770        780 
PADSTEMDDK AAVGVSKPLP SVPPSIGKSN VDRRQAEIGE GSVRRRIYDN PYFEPQYGFP 

       790        800        810        820        830        840 
PEEDEDEQGE SYTPRFSQHV SGNRAQKLLR PNSLRLASDS DAESDSRASS PNSTVSNTST 

       850        860        870        880        890        900 
EGFGGIMSFA SSLYRNHSTS FSLSNLTLPT KGAREKATPF PSLKVFGLNT LMEIVTEAGP 

       910        920        930        940        950        960 
GSGEGNRRAL VDQKSSVIKH SPTVKREPPS PQGRSSNSSE NQQFLKEVVH SVLDGQGVGW 

       970        980        990       1000       1010       1020 
LNMKKVRRLL ESEQLRVFVL SKLNRMVQSE DDARQDIIPD VEISRKVYKG MLDLLKCTVL 

      1030       1040       1050       1060       1070       1080 
SLEQSYAHAG LGGMASIFGL LEIAQTHYYS KEPDKRKRSP TESVNTPVGK DPGLAGRGDP 

      1090       1100       1110       1120       1130       1140 
KAMAQLRVPQ LGPRAPSATG KGPKELDTRS LKEENFIASI ELWNKHQEVK KQKALEKQRP 

      1150       1160       1170       1180       1190       1200 
EVIKPVFDLG ETEEKKSQIS ADSGVSLTSS SQRTDQDSVI GVSPAVMIRS SSQDSEVSTV 

      1210       1220       1230       1240       1250       1260 
VSNSSGETLG ADSDLSSNAG DGPGGEGSVH LASSRGTLSD SEIETNSATS TIFGKAHSLK 

      1270       1280       1290       1300       1310       1320 
PSIKEKLAGS PIRTSEDVSQ RVYLYEGLLG RDKGSMWDQL EDAAMETFSI SKERSTLWDQ 

      1330       1340       1350       1360       1370       1380 
MQFWEDAFLD AVMLEREGMG MDQGPQEMID RYLSLGEHDR KRLEDDEDRL LATLLHNLIS 

      1390       1400       1410       1420       1430       1440 
YMLLMKVNKN DIRKKVRRLM GKSHIGLVYS QQINEVLDQL ANLNGRDLSI WSSGSRHMKK 

      1450       1460       1470       1480       1490       1500 
QTFVVHAGTD TNGDIFFMEV CDDCVVLRSN IGTVYERWWY EKLINMTYCP KTKVLCLWRR 

      1510       1520       1530       1540       1550       1560 
NGSETQLNKF YTKKCRELYY CVKDSMERAA ARQQSIKPGP ELGGEFPVQD LKTGEGGLLQ 

      1570       1580       1590       1600       1610       1620 
VTLEGINLKF MHNQVFIELN HIKKCNTVRG VFVLEEFVPE IKEVVSHKYK TPMAHEICYS 

      1630       1640 
VLCLFSYVAA VHSSEEDLRT PPRPVSS 

« Hide

Isoform 2 (IG20) (IG20-PA) (IG20-PASV) [UniParc].

Checksum: FE1C240F2B74E284
Show »

FASTA1,608178,558
Isoform 3 (DENN) (IG20-SV1) (MADD) [UniParc].

Checksum: 4D83DC2BDCD7AEAD
Show »

FASTA1,588176,555
Isoform 4 (IG20-SV2) [UniParc].

Checksum: BF80481B41A4E680
Show »

FASTA1,565173,395
Isoform 5 (DENN-SV) (IG20-SV3) [UniParc].

Checksum: 30610743419A2E69
Show »

FASTA1,545171,392
Isoform 6 (IG20-SV4) [UniParc].

Checksum: 7D5CECD86F93B07D
Show »

FASTA1,479164,006
Isoform 7 [UniParc].

Checksum: 8E2F7CD03C349AC5
Show »

FASTA1,581175,917
Isoform 8 [UniParc].

Checksum: F717C904CE01ADE1
Show »

FASTA1,541171,006

References

« Hide 'large scale' references
[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 liver.
[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: Liver.
[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: Insulinoma.
[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: Brain.
[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. expand/collapse author list , 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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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: Testis.
[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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41642.1. [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]
RefSeqNP_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]
UniGeneHs.82548.

3D structure databases

ProteinModelPortalQ8WXG6.
SMRQ8WXG6. Positions 272-430.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114136. 7 interactions.
IntActQ8WXG6. 5 interactions.

PTM databases

PhosphoSiteQ8WXG6.

Polymorphism databases

DMDM126215742.

Proteomic databases

MaxQBQ8WXG6.
PaxDbQ8WXG6.
PRIDEQ8WXG6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311027; ENSP00000310933; ENSG00000110514. [Q8WXG6-1]
ENST00000342922; ENSP00000343902; ENSG00000110514. [Q8WXG6-3]
ENST00000349238; ENSP00000304505; ENSG00000110514. [Q8WXG6-2]
ENST00000395336; ENSP00000378745; ENSG00000110514. [Q8WXG6-7]
ENST00000395344; ENSP00000378753; ENSG00000110514. [Q8WXG6-8]
ENST00000402192; ENSP00000384287; ENSG00000110514.
ENST00000402799; ENSP00000385585; ENSG00000110514. [Q8WXG6-5]
ENST00000406482; ENSP00000384435; ENSG00000110514. [Q8WXG6-6]
ENST00000407859; ENSP00000384204; ENSG00000110514. [Q8WXG6-4]
GeneID8567.
KEGGhsa:8567.
UCSCuc001neq.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

CTD8567.
GeneCardsGC11P047290.
HGNCHGNC:6766. MADD.
HPAHPA038568.
MIM603584. gene+phenotype.
neXtProtNX_Q8WXG6.
PharmGKBPA30523.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326239.
HOVERGENHBG079455.
InParanoidQ8WXG6.
OMALKFMHSQ.
OrthoDBEOG708VXV.
PhylomeDBQ8WXG6.
TreeFamTF318583.

Gene expression databases

ArrayExpressQ8WXG6.
BgeeQ8WXG6.
GenevestigatorQ8WXG6.

Family and domain databases

InterProIPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR005113. uDENN_dom.
[Graphical view]
PfamPF03455. dDENN. 1 hit.
PF02141. DENN. 1 hit.
PF03456. uDENN. 1 hit.
[Graphical view]
SMARTSM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00800. uDENN. 1 hit.
[Graphical view]
PROSITEPS50947. DDENN. 1 hit.
PS50211. DENN. 1 hit.
PS50946. UDENN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMADD. human.
GeneWikiMADD_(gene).
GenomeRNAi8567.
NextBio32121.
PROQ8WXG6.
SOURCESearch...

Entry information

Entry nameMADD_HUMAN
AccessionPrimary (citable) accession number: Q8WXG6
Secondary accession number(s): A8K8S7 expand/collapse secondary AC list , B5MEE5, D3DQR4, O15065, O15293, Q15732, Q15741, Q8IWD7, Q8WXG3, Q8WXG4, Q8WXG5, Q8WZ63
Entry history
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM