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Q8WXG6

- MADD_HUMAN

UniProt

Q8WXG6 - MADD_HUMAN

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Protein
MAP kinase-activating death domain protein
Gene
MADD, DENN, IG20, KIAA0358
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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

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. regulation of Rab GTPase activity Source: GOC
  6. regulation of Rab protein signal transduction Source: FlyBase
  7. regulation of apoptotic process Source: UniProtKB
  8. regulation of cell cycle Source: UniProtKB
  9. regulation of extrinsic apoptotic signaling pathway Source: UniProtKB
  10. regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
Complete GO annotation...

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:MADD
Synonyms:DENN, IG20, KIAA0358
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:6766. MADD.

Subcellular locationi

Membrane. Cytoplasm 1 Publication

GO - Cellular componenti

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

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 – 11Removed By similarityBy similarity
Chaini2 – 16471646MAP kinase-activating death domain proteinBy similarity
PRO_0000278138Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei813 – 8131Phosphoserine By 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini25 – 9874UDENN
Add
BLAST
Domaini172 – 402231DENN
Add
BLAST
Domaini485 – 55874dDENN
Add
BLAST
Domaini1340 – 141576Death
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1157 – 125094Ser-rich
Add
BLAST

Sequence similaritiesi

Belongs to the MADD family.
Contains 1 dDENN domain.
Contains 1 death domain.
Contains 1 DENN domain.
Contains 1 uDENN domain.

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: 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.

« 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: IG20, IG20-PA, IG20-PASV

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: DENN, IG20-SV1, MADD

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-SV2

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-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.

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-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.

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.

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. 4 Publications
VSP_052293Add
BLAST
Alternative sequencei885 – 90420Missing in isoform 3, isoform 5, isoform 6 and isoform 8. 5 Publications
VSP_052294Add
BLAST
Alternative sequencei1121 – 113919ELWNK…LEKQR → G in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 5 Publications
VSP_052295Add
BLAST
Alternative sequencei1197 – 12004Missing in isoform 8.
VSP_044848
Alternative sequencei1201 – 12011Missing in isoform 3.
VSP_055676
Alternative sequencei1291 – 131121Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 5 Publications
VSP_052296Add
BLAST
Alternative sequencei1575 – 15828VFIELNHI → FLKLKKW in isoform 6 and isoform 7. 2 Publications
VSP_052297
Alternative sequencei1583 – 164765Missing in isoform 6 and isoform 7. 2 Publications
VSP_052298Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti108 – 1081E → G in AAL40265. 1 Publication
Sequence conflicti108 – 1081E → G in AAL40266. 1 Publication
Sequence conflicti108 – 1081E → G in AAL40267. 1 Publication
Sequence conflicti108 – 1081E → G in AAL40268. 1 Publication
Sequence conflicti108 – 1081E → G in AAL35261. 1 Publication
Sequence conflicti145 – 1451L → F in AAL40265. 1 Publication
Sequence conflicti145 – 1451L → F in AAL40266. 1 Publication
Sequence conflicti145 – 1451L → F in AAL40267. 1 Publication
Sequence conflicti145 – 1451L → F in AAL40268. 1 Publication
Sequence conflicti145 – 1451L → F in AAL35261. 1 Publication
Sequence conflicti205 – 2051E → G in BAF85131. 1 Publication
Sequence conflicti312 – 3121V → L in AAL40265. 1 Publication
Sequence conflicti312 – 3121V → L in AAL40266. 1 Publication
Sequence conflicti312 – 3121V → L in AAL40267. 1 Publication
Sequence conflicti312 – 3121V → L in AAL40268. 1 Publication
Sequence conflicti312 – 3121V → L in AAL35261. 1 Publication
Sequence conflicti482 – 4821V → A in AAL40265. 1 Publication
Sequence conflicti482 – 4821V → A in AAL40266. 1 Publication
Sequence conflicti482 – 4821V → A in AAL40267. 1 Publication
Sequence conflicti482 – 4821V → A in AAL40268. 1 Publication
Sequence conflicti482 – 4821V → A in AAL35261. 1 Publication
Sequence conflicti500 – 5001A → V in BAF85131. 1 Publication
Sequence conflicti1262 – 12621S → C in AAL40265. 1 Publication
Sequence conflicti1262 – 12621S → C in AAL40266. 1 Publication
Sequence conflicti1262 – 12621S → C in AAL40267. 1 Publication
Sequence conflicti1262 – 12621S → C in AAL40268. 1 Publication
Sequence conflicti1262 – 12621S → C in AAL35261. 1 Publication
Sequence conflicti1592 – 15921F → S in BAF85131. 1 Publication
Sequence conflicti1639 – 16391R → G in BAF85131. 1 Publication

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]
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]
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...

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 ]
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 ]
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

« Hide 'large scale' publications
  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.
    , 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: 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. 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: September 3, 2014
This is version 90 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

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