UniProtKB - Q8WXG6 (MADD_HUMAN)
MAP kinase-activating death domain protein
MADD
Functioni
Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family (PubMed:20937701, PubMed:18559336).
Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms (PubMed:20937701, PubMed:18559336).
Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms, GTPases involved in synaptic vesicle exocytosis and vesicle secretion (By similarity).
Plays a role in synaptic vesicle formation and in vesicle trafficking at the neuromuscular junction (By similarity).
Involved in up-regulating a post-docking step of synaptic exocytosis in central synapses (By similarity).
Probably by binding to the motor proteins KIF1B and KIF1A, mediates motor-dependent transport of GTP-RAB3A-positive vesicles to the presynaptic nerve terminals (By similarity).
Plays a role in TNFA-mediated activation of the MAPK pathway, including ERK1/2 (PubMed:32761064).
May link TNFRSF1A with MAP kinase activation (PubMed:9115275).
May be involved in the regulation of TNFA-induced apoptosis (PubMed:11577081, PubMed:32761064).
By similarity5 PublicationsMiscellaneous
GO - Molecular functioni
- death receptor binding Source: ProtInc
- guanyl-nucleotide exchange factor activity Source: UniProtKB
- protein kinase activator activity Source: UniProtKB
GO - Biological processi
- cell surface receptor signaling pathway Source: ProtInc
- execution phase of apoptosis Source: UniProtKB
- positive regulation of MAPK cascade Source: UniProtKB
- regulation of apoptotic process Source: UniProtKB
- regulation of cell cycle Source: UniProtKB
- regulation of extrinsic apoptotic signaling pathway Source: UniProtKB
- regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
- regulation of Rab protein signal transduction Source: FlyBase
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Biological process | Apoptosis |
Enzyme and pathway databases
PathwayCommonsi | Q8WXG6 |
Reactomei | R-HSA-5357905, Regulation of TNFR1 signaling R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs [Q8WXG6-3] |
SignaLinki | Q8WXG6 |
SIGNORi | Q8WXG6 |
Names & Taxonomyi
Protein namesi | Recommended name: MAP kinase-activating death domain proteinAlternative name(s): Differentially expressed in normal and neoplastic cells Insulinoma glucagonoma clone 20 Rab3 GDP/GTP exchange factor Short name: RabGEFCurated Rab3 GDP/GTP exchange proteinCurated Short name: Rab3GEPCurated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6766, MADD |
MIMi | 603584, gene+phenotype |
neXtProti | NX_Q8WXG6 |
VEuPathDBi | HostDB:ENSG00000110514 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Other locations
- axon By similarity
Cytosol
- cytosol Source: HPA
Plasma Membrane
- plasma membrane Source: HPA
Other locations
- axon Source: UniProtKB-SubCell
- cytoplasm Source: ProtInc
- integral component of membrane Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
DEEAH syndrome (DEEAH)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084660 | 216 – 1647 | Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST | 1432 | |
Natural variantiVAR_084661 | 257 | S → F in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication | 1 | |
Natural variantiVAR_084662 | 305 | G → V in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication | 1 | |
Natural variantiVAR_084663 | 327 – 1647 | Missing in DEEAH and NEDDISH; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs147179561Add BLAST | 1321 | |
Natural variantiVAR_084666 | 372 | P → L in DEEAH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147713337EnsemblClinVar. | 1 | |
Natural variantiVAR_084668 | 1040 | L → R in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 2 Publications | 1 | |
Natural variantiVAR_084672 | 1431 – 1647 | Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST | 217 |
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084659 | 198 | R → H in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149316791EnsemblClinVar. | 1 | |
Natural variantiVAR_084663 | 327 – 1647 | Missing in DEEAH and NEDDISH; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs147179561Add BLAST | 1321 | |
Natural variantiVAR_084664 | 346 | L → P in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1591767154EnsemblClinVar. | 1 | |
Natural variantiVAR_084665 | 354 | P → L in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationCorresponds to variant dbSNP:rs370382902EnsemblClinVar. | 1 | |
Natural variantiVAR_084667 | 945 | L → P in NEDDISH; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084669 | 1213 – 1647 | Missing in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationAdd BLAST | 435 | |
Natural variantiVAR_084670 | 1283 | Y → S in NEDDISH; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084671 | 1318 | W → R in NEDDISH; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084673 | 1532 – 1647 | Missing in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs971864929Add BLAST | 116 |
Keywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 8567 |
MalaCardsi | MADD |
MIMi | 603584, gene+phenotype 619004, phenotype 619005, phenotype |
OpenTargetsi | ENSG00000110514 |
Orphaneti | 528084, Non-specific syndromic intellectual disability |
PharmGKBi | PA30523 |
Miscellaneous databases
Pharosi | Q8WXG6, Tbio |
Genetic variation databases
BioMutai | MADD |
DMDMi | 126215742 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000278138 | 1 – 1647 | MAP kinase-activating death domain proteinBy similarityAdd BLAST | 1647 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 156 | PhosphoserineCombined sources | 1 | |
Modified residuei | 689 | PhosphoserineBy similarity | 1 | |
Modified residuei | 692 | PhosphoserineCombined sources | 1 | |
Modified residuei | 813 | PhosphoserineBy similarity | 1 | |
Modified residuei | 818 | PhosphoserineCombined sources | 1 | |
Modified residuei | 820 | PhosphoserineCombined sources | 1 | |
Modified residuei | 858 | PhosphoserineCombined sources | 1 | |
Modified residuei | 862 | PhosphoserineCombined sources | 1 | |
Modified residuei | 916 | PhosphoserineCombined sources | 1 | |
Modified residuei | 921 | PhosphoserineCombined sources | 1 | |
Modified residuei | 930 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1059 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1061 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 1066 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 1110 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1237 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1239 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1270 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8WXG6 |
jPOSTi | Q8WXG6 |
MassIVEi | Q8WXG6 |
MaxQBi | Q8WXG6 |
PaxDbi | Q8WXG6 |
PeptideAtlasi | Q8WXG6 |
PRIDEi | Q8WXG6 |
ProteomicsDBi | 6231 75032 [Q8WXG6-1] 75033 [Q8WXG6-2] 75034 [Q8WXG6-3] 75035 [Q8WXG6-4] 75036 [Q8WXG6-5] 75037 [Q8WXG6-6] 75038 [Q8WXG6-7] |
PTM databases
GlyGeni | Q8WXG6, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q8WXG6 |
MetOSitei | Q8WXG6 |
PhosphoSitePlusi | Q8WXG6 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000110514, Expressed in right hemisphere of cerebellum and 235 other tissues |
ExpressionAtlasi | Q8WXG6, baseline and differential |
Genevisiblei | Q8WXG6, HS |
Organism-specific databases
HPAi | ENSG00000110514, Tissue enhanced (retina) |
Interactioni
Subunit structurei
Interacts (via death domain) with TNFRSF1A (via death domain) (PubMed:9115275, PubMed:11577081).
Interacts with PIDD1 (PubMed:10825539).
Interacts with YWHAZ (PubMed:16959763).
Interacts (via death domain) with KIF1B (By similarity).
Interacts with KIF1A (By similarity).
Interacts (via uDENN domain) with RAB3A, RAB3B, RAB3C and RAB3D; the GTP-bound form of the Rab proteins is preferred for interaction (By similarity).
By similarity4 PublicationsBinary interactionsi
GO - Molecular functioni
- death receptor binding Source: ProtInc
Protein-protein interaction databases
BioGRIDi | 114136, 106 interactors |
ELMi | Q8WXG6 |
IntActi | Q8WXG6, 26 interactors |
MINTi | Q8WXG6 |
STRINGi | 9606.ENSP00000310933 |
Miscellaneous databases
RNActi | Q8WXG6, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q8WXG6 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 14 – 268 | uDENNPROSITE-ProRule annotationAdd BLAST | 255 | |
Domaini | 289 – 429 | cDENNPROSITE-ProRule annotationAdd BLAST | 141 | |
Domaini | 431 – 565 | dDENNPROSITE-ProRule annotationAdd BLAST | 135 | |
Domaini | 1340 – 1415 | DeathSequence analysisAdd BLAST | 76 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 108 – 168 | DisorderedSequence analysisAdd BLAST | 61 | |
Regioni | 604 – 636 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 678 – 842 | DisorderedSequence analysisAdd BLAST | 165 | |
Regioni | 913 – 941 | DisorderedSequence analysisAdd BLAST | 29 | |
Regioni | 1051 – 1110 | DisorderedSequence analysisAdd BLAST | 60 | |
Regioni | 1146 – 1243 | DisorderedSequence analysisAdd BLAST | 98 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 128 – 156 | Polar residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 689 – 719 | Polar residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 793 – 808 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 817 – 842 | Polar residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 1159 – 1215 | Polar residuesSequence analysisAdd BLAST | 57 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3570, Eukaryota |
GeneTreei | ENSGT00940000156718 |
HOGENOMi | CLU_001270_1_0_1 |
InParanoidi | Q8WXG6 |
OMAi | TFEDLTY |
PhylomeDBi | Q8WXG6 |
TreeFami | TF318583 |
Family and domain databases
Gene3Di | 3.40.50.11500, 1 hit |
InterProi | View protein in InterPro IPR001194, cDENN_dom IPR005112, dDENN_dom IPR043153, DENN_C IPR039980, MADD IPR037516, Tripartite_DENN IPR005113, uDENN_dom |
PANTHERi | PTHR13008, PTHR13008, 1 hit |
Pfami | View protein in Pfam PF02141, DENN, 1 hit PF03456, uDENN, 1 hit |
SMARTi | View protein in SMART SM00801, dDENN, 1 hit SM00799, DENN, 1 hit SM00800, uDENN, 1 hit |
PROSITEi | View protein in PROSITE PS50211, DENN, 1 hit |
s (8+)i Sequence
Sequence statusi: Complete.
This entry describes 8 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 8 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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.
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.
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.
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MRB5 | A0A0A0MRB5_HUMAN | MAP kinase-activating death domain ... | MADD | 1,588 | Annotation score: | ||
F8W8U2 | F8W8U2_HUMAN | MAP kinase-activating death domain ... | MADD | 439 | Annotation score: | ||
C9J6B0 | C9J6B0_HUMAN | MAP kinase-activating death domain ... | MADD | 154 | Annotation score: | ||
C9K0L0 | C9K0L0_HUMAN | MAP kinase-activating death domain ... | MADD | 136 | Annotation score: | ||
C9JLZ9 | C9JLZ9_HUMAN | MAP kinase-activating death domain ... | MADD | 135 | Annotation score: | ||
C9JM97 | C9JM97_HUMAN | MAP kinase-activating death domain ... | MADD | 75 | Annotation score: | ||
A0A0U1RR25 | A0A0U1RR25_HUMAN | MAP kinase-activating death domain ... | MADD | 199 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 108 | E → G in AAL40265 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 108 | E → G in AAL40266 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 108 | E → G in AAL40267 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 108 | E → G in AAL40268 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 108 | E → G in AAL35261 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 145 | L → F in AAL40265 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 145 | L → F in AAL40266 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 145 | L → F in AAL40267 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 145 | L → F in AAL40268 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 145 | L → F in AAL35261 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 205 | E → G in BAF85131 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 312 | V → L in AAL40265 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 312 | V → L in AAL40266 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 312 | V → L in AAL40267 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 312 | V → L in AAL40268 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 312 | V → L in AAL35261 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 482 | V → A in AAL40265 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 482 | V → A in AAL40266 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 482 | V → A in AAL40267 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 482 | V → A in AAL40268 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 482 | V → A in AAL35261 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 500 | A → V in BAF85131 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1262 | S → C in AAL40265 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 1262 | S → C in AAL40266 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 1262 | S → C in AAL40267 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 1262 | S → C in AAL40268 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 1262 | S → C in AAL35261 (PubMed:11577081).Curated | 1 | |
Sequence conflicti | 1592 | F → S in BAF85131 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1639 | R → G in BAF85131 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084659 | 198 | R → H in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149316791EnsemblClinVar. | 1 | |
Natural variantiVAR_084660 | 216 – 1647 | Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST | 1432 | |
Natural variantiVAR_084661 | 257 | S → F in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication | 1 | |
Natural variantiVAR_084662 | 305 | G → V in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication | 1 | |
Natural variantiVAR_084663 | 327 – 1647 | Missing in DEEAH and NEDDISH; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs147179561Add BLAST | 1321 | |
Natural variantiVAR_084664 | 346 | L → P in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1591767154EnsemblClinVar. | 1 | |
Natural variantiVAR_084665 | 354 | P → L in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationCorresponds to variant dbSNP:rs370382902EnsemblClinVar. | 1 | |
Natural variantiVAR_084666 | 372 | P → L in DEEAH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147713337EnsemblClinVar. | 1 | |
Natural variantiVAR_030666 | 696 | P → T1 PublicationCorresponds to variant dbSNP:rs17854007Ensembl. | 1 | |
Natural variantiVAR_030667 | 751 | V → M1 PublicationCorresponds to variant dbSNP:rs1051006Ensembl. | 1 | |
Natural variantiVAR_051148 | 765 | R → Q. Corresponds to variant dbSNP:rs3736101Ensembl. | 1 | |
Natural variantiVAR_084667 | 945 | L → P in NEDDISH; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_030668 | 968 | R → G1 PublicationCorresponds to variant dbSNP:rs17854008Ensembl. | 1 | |
Natural variantiVAR_030669 | 1040 | L → F1 PublicationCorresponds to variant dbSNP:rs17854009Ensembl. | 1 | |
Natural variantiVAR_084668 | 1040 | L → R in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 2 Publications | 1 | |
Natural variantiVAR_084669 | 1213 – 1647 | Missing in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationAdd BLAST | 435 | |
Natural variantiVAR_084670 | 1283 | Y → S in NEDDISH; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084671 | 1318 | W → R in NEDDISH; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084672 | 1431 – 1647 | Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST | 217 | |
Natural variantiVAR_051149 | 1518 | L → P. Corresponds to variant dbSNP:rs34534575Ensembl. | 1 | |
Natural variantiVAR_084673 | 1532 – 1647 | Missing in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs971864929Add BLAST | 116 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_052293 | 762 – 804 | Missing in isoform 4, isoform 5, isoform 6 and isoform 8. 5 PublicationsAdd BLAST | 43 | |
Alternative sequenceiVSP_052294 | 885 – 904 | Missing in isoform 3, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST | 20 | |
Alternative sequenceiVSP_052295 | 1121 – 1139 | ELWNK…LEKQR → G in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST | 19 | |
Alternative sequenceiVSP_044848 | 1197 – 1200 | Missing in isoform 8. 1 Publication | 4 | |
Alternative sequenceiVSP_055676 | 1201 | Missing in isoform 3. 3 Publications | 1 | |
Alternative sequenceiVSP_052296 | 1291 – 1311 | Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST | 21 | |
Alternative sequenceiVSP_052297 | 1575 – 1582 | VFIELNHI → FLKLKKW in isoform 6 and isoform 7. 2 Publications | 8 | |
Alternative sequenceiVSP_052298 | 1583 – 1647 | Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST | 65 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
AlphaFoldDBi | Q8WXG6 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114136, 106 interactors |
ELMi | Q8WXG6 |
IntActi | Q8WXG6, 26 interactors |
MINTi | Q8WXG6 |
STRINGi | 9606.ENSP00000310933 |
PTM databases
GlyGeni | Q8WXG6, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q8WXG6 |
MetOSitei | Q8WXG6 |
PhosphoSitePlusi | Q8WXG6 |
Genetic variation databases
BioMutai | MADD |
DMDMi | 126215742 |
Proteomic databases
EPDi | Q8WXG6 |
jPOSTi | Q8WXG6 |
MassIVEi | Q8WXG6 |
MaxQBi | Q8WXG6 |
PaxDbi | Q8WXG6 |
PeptideAtlasi | Q8WXG6 |
PRIDEi | Q8WXG6 |
ProteomicsDBi | 6231 75032 [Q8WXG6-1] 75033 [Q8WXG6-2] 75034 [Q8WXG6-3] 75035 [Q8WXG6-4] 75036 [Q8WXG6-5] 75037 [Q8WXG6-6] 75038 [Q8WXG6-7] |
Protocols and materials databases
Antibodypediai | 13636, 171 antibodies from 34 providers |
DNASUi | 8567 |
Genome annotation databases
Organism-specific databases
CTDi | 8567 |
DisGeNETi | 8567 |
GeneCardsi | MADD |
HGNCi | HGNC:6766, MADD |
HPAi | ENSG00000110514, Tissue enhanced (retina) |
MalaCardsi | MADD |
MIMi | 603584, gene+phenotype 619004, phenotype 619005, phenotype |
neXtProti | NX_Q8WXG6 |
OpenTargetsi | ENSG00000110514 |
Orphaneti | 528084, Non-specific syndromic intellectual disability |
PharmGKBi | PA30523 |
VEuPathDBi | HostDB:ENSG00000110514 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3570, Eukaryota |
GeneTreei | ENSGT00940000156718 |
HOGENOMi | CLU_001270_1_0_1 |
InParanoidi | Q8WXG6 |
OMAi | TFEDLTY |
PhylomeDBi | Q8WXG6 |
TreeFami | TF318583 |
Enzyme and pathway databases
PathwayCommonsi | Q8WXG6 |
Reactomei | R-HSA-5357905, Regulation of TNFR1 signaling R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs [Q8WXG6-3] |
SignaLinki | Q8WXG6 |
SIGNORi | Q8WXG6 |
Miscellaneous databases
BioGRID-ORCSi | 8567, 12 hits in 1079 CRISPR screens |
ChiTaRSi | MADD, human |
GeneWikii | MADD_(gene) |
GenomeRNAii | 8567 |
Pharosi | Q8WXG6, Tbio |
PROi | PR:Q8WXG6 |
RNActi | Q8WXG6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110514, Expressed in right hemisphere of cerebellum and 235 other tissues |
ExpressionAtlasi | Q8WXG6, baseline and differential |
Genevisiblei | Q8WXG6, HS |
Family and domain databases
Gene3Di | 3.40.50.11500, 1 hit |
InterProi | View protein in InterPro IPR001194, cDENN_dom IPR005112, dDENN_dom IPR043153, DENN_C IPR039980, MADD IPR037516, Tripartite_DENN IPR005113, uDENN_dom |
PANTHERi | PTHR13008, PTHR13008, 1 hit |
Pfami | View protein in Pfam PF02141, DENN, 1 hit PF03456, uDENN, 1 hit |
SMARTi | View protein in SMART SM00801, dDENN, 1 hit SM00799, DENN, 1 hit SM00800, uDENN, 1 hit |
PROSITEi | View protein in PROSITE PS50211, DENN, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MADD_HUMAN | |
Accessioni | Q8WXG6Primary (citable) accession number: Q8WXG6 Secondary accession number(s): A8K8S7 Q8WZ63 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 20, 2007 |
Last sequence update: | February 20, 2007 | |
Last modified: | May 25, 2022 | |
This is version 149 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families