Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

MAP kinase-activating death domain protein

Gene

MADD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

GO - Molecular functioni

  • death receptor binding Source: ProtInc
  • protein kinase activator activity Source: UniProtKB
  • Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor
Biological processApoptosis

Enzyme and pathway databases

ReactomeiR-HSA-5357905 Regulation of TNFR1 signaling
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110514.19
HGNCiHGNC:6766 MADD
MIMi603584 gene+phenotype
neXtProtiNX_Q8WXG6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi8567
MIMi603584 gene+phenotype
OpenTargetsiENSG00000110514
PharmGKBiPA30523

Polymorphism and mutation databases

BioMutaiMADD
DMDMi126215742

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002781381 – 1647MAP kinase-activating death domain proteinBy similarityAdd BLAST1647

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei156PhosphoserineCombined sources1
Modified residuei689PhosphoserineBy similarity1
Modified residuei692PhosphoserineCombined sources1
Modified residuei813PhosphoserineBy similarity1
Modified residuei818PhosphoserineCombined sources1
Modified residuei820PhosphoserineCombined sources1
Modified residuei858PhosphoserineCombined sources1
Modified residuei862PhosphoserineCombined sources1
Modified residuei916PhosphoserineCombined sources1
Modified residuei921PhosphoserineCombined sources1
Modified residuei930PhosphoserineBy similarity1
Modified residuei1059PhosphoserineCombined sources1
Modified residuei1061PhosphothreonineBy similarity1
Modified residuei1066PhosphothreonineBy similarity1
Modified residuei1110PhosphoserineBy similarity1
Modified residuei1237PhosphothreonineCombined sources1
Modified residuei1239PhosphoserineCombined sources1
Modified residuei1270PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8WXG6
MaxQBiQ8WXG6
PaxDbiQ8WXG6
PeptideAtlasiQ8WXG6
PRIDEiQ8WXG6
ProteomicsDBi75032
75033 [Q8WXG6-2]
75034 [Q8WXG6-3]
75035 [Q8WXG6-4]
75036 [Q8WXG6-5]
75037 [Q8WXG6-6]
75038 [Q8WXG6-7]

PTM databases

iPTMnetiQ8WXG6
PhosphoSitePlusiQ8WXG6

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

BgeeiENSG00000110514 Expressed in 222 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ8WXG6 baseline and differential
GenevisibleiQ8WXG6 HS

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114136, 30 interactors
ELMiQ8WXG6
IntActiQ8WXG6, 9 interactors
MINTiQ8WXG6
STRINGi9606.ENSP00000310933

Structurei

3D structure databases

ProteinModelPortaliQ8WXG6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 268uDENNPROSITE-ProRule annotationAdd BLAST255
Domaini289 – 429cDENNPROSITE-ProRule annotationAdd BLAST141
Domaini431 – 565dDENNPROSITE-ProRule annotationAdd BLAST135
Domaini1340 – 1415DeathSequence analysisAdd BLAST76

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1157 – 1250Ser-richSequence analysisAdd BLAST94

Sequence similaritiesi

Belongs to the MADD family.Curated

Phylogenomic databases

eggNOGiKOG3570 Eukaryota
ENOG410XP23 LUCA
GeneTreeiENSGT00760000118819
HOGENOMiHOG000231438
HOVERGENiHBG079455
InParanoidiQ8WXG6
OMAiSQRTDPD
OrthoDBiEOG091G00AV
PhylomeDBiQ8WXG6
TreeFamiTF318583

Family and domain databases

InterProiView protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
IPR039980 MADD
IPR037516 Tripartite_DENN
IPR005113 uDENN_dom
PANTHERiPTHR13008 PTHR13008, 1 hit
PfamiView protein in Pfam
PF02141 DENN, 1 hit
PF03456 uDENN, 1 hit
SMARTiView protein in SMART
SM00801 dDENN, 1 hit
SM00799 DENN, 1 hit
SM00800 uDENN, 1 hit
PROSITEiView protein in PROSITE
PS50211 DENN, 1 hit

Sequences (8+)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MVQKKKFCPR LLDYLVIVGA RHPSSDSVAQ TPELLRRYPL EDHTEFPLPP
60 70 80 90 100
DVVFFCQPEG CLSVRQRRMS LRDDTSFVFT LTDKDTGVTR YGICVNFYRS
110 120 130 140 150
FQKRISKEKG EGGAGSRGKE GTHATCASEE GGTESSESGS SLQPLSADST
160 170 180 190 200
PDVNQSPRGK RRAKAGSRSR NSTLTSLCVL SHYPFFSTFR ECLYTLKRLV
210 220 230 240 250
DCCSERLLGK KLGIPRGVQR DTMWRIFTGS LLVEEKSSAL LHDLREIEAW
260 270 280 290 300
IYRLLRSPVP VSGQKRVDIE VLPQELQPAL TFALPDPSRF TLVDFPLHLP
310 320 330 340 350
LELLGVDACL QVLTCILLEH KVVLQSRDYN ALSMSVMAFV AMIYPLEYMF
360 370 380 390 400
PVIPLLPTCM ASAEQLLLAP TPYIIGVPAS FFLYKLDFKM PDDVWLVDLD
410 420 430 440 450
SNRVIAPTNA EVLPILPEPE SLELKKHLKQ ALASMSLNTQ PILNLEKFHE
460 470 480 490 500
GQEIPLLLGR PSNDLQSTPS TEFNPLIYGN DVDSVDVATR VAMVRFFNSA
510 520 530 540 550
NVLQGFQMHT RTLRLFPRPV VAFQAGSFLA SRPRQTPFAE KLARTQAVEY
560 570 580 590 600
FGEWILNPTN YAFQRIHNNM FDPALIGDKP KWYAHQLQPI HYRVYDSNSQ
610 620 630 640 650
LAEALSVPPE RDSDSEPTDD SGSDSMDYDD SSSSYSSLGD FVSEMMKCDI
660 670 680 690 700
NGDTPNVDPL THAALGDASE VEIDELQNQK EAEEPGPDSE NSQENPPLRS
710 720 730 740 750
SSSTTASSSP STVIHGANSE PADSTEMDDK AAVGVSKPLP SVPPSIGKSN
760 770 780 790 800
VDRRQAEIGE GSVRRRIYDN PYFEPQYGFP PEEDEDEQGE SYTPRFSQHV
810 820 830 840 850
SGNRAQKLLR PNSLRLASDS DAESDSRASS PNSTVSNTST EGFGGIMSFA
860 870 880 890 900
SSLYRNHSTS FSLSNLTLPT KGAREKATPF PSLKVFGLNT LMEIVTEAGP
910 920 930 940 950
GSGEGNRRAL VDQKSSVIKH SPTVKREPPS PQGRSSNSSE NQQFLKEVVH
960 970 980 990 1000
SVLDGQGVGW LNMKKVRRLL ESEQLRVFVL SKLNRMVQSE DDARQDIIPD
1010 1020 1030 1040 1050
VEISRKVYKG MLDLLKCTVL SLEQSYAHAG LGGMASIFGL LEIAQTHYYS
1060 1070 1080 1090 1100
KEPDKRKRSP TESVNTPVGK DPGLAGRGDP KAMAQLRVPQ LGPRAPSATG
1110 1120 1130 1140 1150
KGPKELDTRS LKEENFIASI ELWNKHQEVK KQKALEKQRP EVIKPVFDLG
1160 1170 1180 1190 1200
ETEEKKSQIS ADSGVSLTSS SQRTDQDSVI GVSPAVMIRS SSQDSEVSTV
1210 1220 1230 1240 1250
VSNSSGETLG ADSDLSSNAG DGPGGEGSVH LASSRGTLSD SEIETNSATS
1260 1270 1280 1290 1300
TIFGKAHSLK PSIKEKLAGS PIRTSEDVSQ RVYLYEGLLG RDKGSMWDQL
1310 1320 1330 1340 1350
EDAAMETFSI SKERSTLWDQ MQFWEDAFLD AVMLEREGMG MDQGPQEMID
1360 1370 1380 1390 1400
RYLSLGEHDR KRLEDDEDRL LATLLHNLIS YMLLMKVNKN DIRKKVRRLM
1410 1420 1430 1440 1450
GKSHIGLVYS QQINEVLDQL ANLNGRDLSI WSSGSRHMKK QTFVVHAGTD
1460 1470 1480 1490 1500
TNGDIFFMEV CDDCVVLRSN IGTVYERWWY EKLINMTYCP KTKVLCLWRR
1510 1520 1530 1540 1550
NGSETQLNKF YTKKCRELYY CVKDSMERAA ARQQSIKPGP ELGGEFPVQD
1560 1570 1580 1590 1600
LKTGEGGLLQ VTLEGINLKF MHNQVFIELN HIKKCNTVRG VFVLEEFVPE
1610 1620 1630 1640
IKEVVSHKYK TPMAHEICYS VLCLFSYVAA VHSSEEDLRT PPRPVSS
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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MRB5A0A0A0MRB5_HUMAN
MAP kinase-activating death domain ...
MADD
1,588Annotation score:
F8W8U2F8W8U2_HUMAN
MAP kinase-activating death domain ...
MADD
439Annotation score:
C9J6B0C9J6B0_HUMAN
MAP kinase-activating death domain ...
MADD
154Annotation score:
C9JLZ9C9JLZ9_HUMAN
MAP kinase-activating death domain ...
MADD
135Annotation score:
C9K0L0C9K0L0_HUMAN
MAP kinase-activating death domain ...
MADD
136Annotation score:
C9JM97C9JM97_HUMAN
MAP kinase-activating death domain ...
MADD
75Annotation score:
A0A0U1RR25A0A0U1RR25_HUMAN
MAP kinase-activating death domain ...
MADD
199Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti108E → G in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti205E → G in BAF85131 (PubMed:14702039).Curated1
Sequence conflicti312V → L in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti500A → V in BAF85131 (PubMed:14702039).Curated1
Sequence conflicti1262S → C in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti1592F → S in BAF85131 (PubMed:14702039).Curated1
Sequence conflicti1639R → G in BAF85131 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030666696P → T1 PublicationCorresponds to variant dbSNP:rs17854007Ensembl.1
Natural variantiVAR_030667751V → M1 PublicationCorresponds to variant dbSNP:rs1051006Ensembl.1
Natural variantiVAR_051148765R → Q. Corresponds to variant dbSNP:rs3736101Ensembl.1
Natural variantiVAR_030668968R → G1 PublicationCorresponds to variant dbSNP:rs17854008Ensembl.1
Natural variantiVAR_0306691040L → F1 PublicationCorresponds to variant dbSNP:rs17854009Ensembl.1
Natural variantiVAR_0511491518L → P. Corresponds to variant dbSNP:rs34534575Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_052293762 – 804Missing in isoform 4, isoform 5, isoform 6 and isoform 8. 5 PublicationsAdd BLAST43
Alternative sequenceiVSP_052294885 – 904Missing in isoform 3, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST20
Alternative sequenceiVSP_0522951121 – 1139ELWNK…LEKQR → G in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST19
Alternative sequenceiVSP_0448481197 – 1200Missing in isoform 8. 1 Publication4
Alternative sequenceiVSP_0556761201Missing in isoform 3. 3 Publications1
Alternative sequenceiVSP_0522961291 – 1311Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST21
Alternative sequenceiVSP_0522971575 – 1582VFIELNHI → FLKLKKW in isoform 6 and isoform 7. 2 Publications8
Alternative sequenceiVSP_0522981583 – 1647Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS44586.1 [Q8WXG6-3]
CCDS44587.1 [Q8WXG6-4]
CCDS44588.1 [Q8WXG6-5]
CCDS44589.1 [Q8WXG6-8]
CCDS44590.1 [Q8WXG6-6]
CCDS7930.1 [Q8WXG6-1]
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
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 [Q8WXG6-3]
XP_005253246.1, XM_005253189.2 [Q8WXG6-1]
XP_005253253.1, XM_005253196.2 [Q8WXG6-2]
XP_005253256.1, XM_005253199.2
XP_005253258.1, XM_005253201.2 [Q8WXG6-4]
XP_005253260.1, XM_005253203.2 [Q8WXG6-5]
XP_005253261.1, XM_005253204.2 [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
UCSCiuc001ner.2 human [Q8WXG6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS44586.1 [Q8WXG6-3]
CCDS44587.1 [Q8WXG6-4]
CCDS44588.1 [Q8WXG6-5]
CCDS44589.1 [Q8WXG6-8]
CCDS44590.1 [Q8WXG6-6]
CCDS7930.1 [Q8WXG6-1]
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
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 [Q8WXG6-3]
XP_005253246.1, XM_005253189.2 [Q8WXG6-1]
XP_005253253.1, XM_005253196.2 [Q8WXG6-2]
XP_005253256.1, XM_005253199.2
XP_005253258.1, XM_005253201.2 [Q8WXG6-4]
XP_005253260.1, XM_005253203.2 [Q8WXG6-5]
XP_005253261.1, XM_005253204.2 [Q8WXG6-8]
XP_005253262.1, XM_005253205.1 [Q8WXG6-6]
UniGeneiHs.82548

3D structure databases

ProteinModelPortaliQ8WXG6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114136, 30 interactors
ELMiQ8WXG6
IntActiQ8WXG6, 9 interactors
MINTiQ8WXG6
STRINGi9606.ENSP00000310933

PTM databases

iPTMnetiQ8WXG6
PhosphoSitePlusiQ8WXG6

Polymorphism and mutation databases

BioMutaiMADD
DMDMi126215742

Proteomic databases

EPDiQ8WXG6
MaxQBiQ8WXG6
PaxDbiQ8WXG6
PeptideAtlasiQ8WXG6
PRIDEiQ8WXG6
ProteomicsDBi75032
75033 [Q8WXG6-2]
75034 [Q8WXG6-3]
75035 [Q8WXG6-4]
75036 [Q8WXG6-5]
75037 [Q8WXG6-6]
75038 [Q8WXG6-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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
UCSCiuc001ner.2 human [Q8WXG6-1]

Organism-specific databases

CTDi8567
DisGeNETi8567
EuPathDBiHostDB:ENSG00000110514.19
GeneCardsiMADD
HGNCiHGNC:6766 MADD
HPAiHPA038568
MIMi603584 gene+phenotype
neXtProtiNX_Q8WXG6
OpenTargetsiENSG00000110514
PharmGKBiPA30523
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3570 Eukaryota
ENOG410XP23 LUCA
GeneTreeiENSGT00760000118819
HOGENOMiHOG000231438
HOVERGENiHBG079455
InParanoidiQ8WXG6
OMAiSQRTDPD
OrthoDBiEOG091G00AV
PhylomeDBiQ8WXG6
TreeFamiTF318583

Enzyme and pathway databases

ReactomeiR-HSA-5357905 Regulation of TNFR1 signaling
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRSiMADD human
GeneWikiiMADD_(gene)
GenomeRNAii8567
PROiPR:Q8WXG6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110514 Expressed in 222 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ8WXG6 baseline and differential
GenevisibleiQ8WXG6 HS

Family and domain databases

InterProiView protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
IPR039980 MADD
IPR037516 Tripartite_DENN
IPR005113 uDENN_dom
PANTHERiPTHR13008 PTHR13008, 1 hit
PfamiView protein in Pfam
PF02141 DENN, 1 hit
PF03456 uDENN, 1 hit
SMARTiView protein in SMART
SM00801 dDENN, 1 hit
SM00799 DENN, 1 hit
SM00800 uDENN, 1 hit
PROSITEiView protein in PROSITE
PS50211 DENN, 1 hit
ProtoNetiSearch...

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 historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: November 7, 2018
This is version 128 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again