Protein detail
MADD
MAP kinase-activating death domain protein (Differentially expressed in normal and neoplastic cells) (Insulinoma glucagonoma clone 20) (Rab3 GDP/GTP exchange factor) (RabGEF) (Rab3 GDP/GTP exchange protein) (Rab3GEP)
Entry name MADD | UniProt ID | EVMP confidence score 0.50 |
Supporting publications (n) 2 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins |
EVMP confidence score
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40Basic Information11
Protein Names
MAP kinase-activating death domain protein (Differentially expressed in normal and neoplastic cells) (Insulinoma glucagonoma clone 20) (Rab3 GDP/GTP exchange factor) (RabGEF) (Rab3 GDP/GTP exchange protein) (Rab3GEP)
Protein Class (4)
Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins
Protein Function (3)
- Disease related genes
- Human disease related genes:Congenital malformations:Congenital malformations of the nervous system
- Predicted intracellular proteins
Ensembl
Entrez Gene Symbol
Gene Synonym (3)
DENNKIAA0358RAB3GEP
Gene Description
MAP kinase activating death domain
Chromosome
11
Position
47269161-47330031
Supporting publications (n)
2
EVMP confidence score
0.50
Fluorescence & Localization4
Cell SpecificEsophageal apical cellsBlood Cell SpecificneutrophilBlood Lineage Specificgranulocytes
Function & Pathway7
Protein Function (3)
- Disease related genes
- Human disease related genes:Congenital malformations:Congenital malformations of the nervous system
- Predicted intracellular proteins
Cellular Component (5)
Molecular Function (4)
Biological Process (3)
Reactome (6)
Canonical Pathways (3)
- M56 Pid lpa4 pathway
- M8 Pid endothelin pathway
- M15 Pid lysophospholipid pathway
Mediation Categories (2)
Fusion and delivery mediationReceptor-signaling mediation
Relations & Evidence12
Ligand-Receptor Signaling (9)
9 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
| transmembrane | transmembrane | Ramilowski_location | No | No | No | No | No |
| transmembrane | transmembrane | OmniPath | No | No | No | No | No |
| plasma_membrane | plasma_membrane | UniProt_location | No | No | No | No | No |
| plasma_membrane | plasma_membrane | OmniPath | No | No | No | No | No |
| transmembrane | transmembrane_predicted | Phobius | No | No | No | No | No |
Regulatory Interaction Network (2)
2 records.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| DMXL2 | Q8TDJ6 | MADD | Q8WXG6 | Yes | Yes | No | SIGNOR | SIGNOR:11809763 |
| MADD | Q8WXG6 | RAB3A | P20336 | Yes | Yes | No | SIGNOR | SIGNOR:11809763 |
Isolation & Detection Technology (1)
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Differential UltracentrifugationSize Exclusion Chromatography | Mass spectrometry | 1 | 27894104 |
Sequence, Structure & Domains10
Sequences
Length
1,647
Mass
183,303
Sequence
MVQKKKFCPRLLDYLVIVGARHPSSDSVAQTPELLRRYPLEDHTEFPLPPDVVFFCQPEGCLSVRQRRMSLRDDTSFVFTLTDKDTGVTRYGICVNFYRSFQKRISKEKGEGGAGSRGKEGTHATCASEEGGTESSESGSSLQPLSADSTPDVNQSPRGKRRAKAGSRSRNSTLTSLCVLSHYPFFSTFRECLYTLKRLVDCCSERLLGKKLGIPRGVQRDTMWRIFTGSLLVEEKSSALLHDLREIEAWIYRLLRSPVPVSGQKRVDIEVLPQELQPALTFALPDPSRFTLVDFPLHLPLELLGVDACLQVLTCILLEHKVVLQSRDYNALSMSVMAFVAMIYPLEYMFPVIPLLPTCMASAEQLLLAPTPYIIGVPASFFLYKLDFKMPDDVWLVDLDSNRVIAPTNAEVLPILPEPESLELKKHLKQALASMSLNTQPILNLEKFHEGQEIPLLLGRPSNDLQSTPSTEFNPLIYGNDVDSVDVATRVAMVRFFNSANVLQGFQMHTRTLRLFPRPVVAFQAGSFLASRPRQTPFAEKLARTQAVEYFGEWILNPTNYAFQRIHNNMFDPALIGDKPKWYAHQLQPIHYRVYDSNSQLAEALSVPPERDSDSEPTDDSGSDSMDYDDSSSSYSSLGDFVSEMMKCDINGDTPNVDPLTHAALGDASEVEIDELQNQKEAEEPGPDSENSQENPPLRSSSSTTASSSPSTVIHGANSEPADSTEMDDKAAVGVSKPLPSVPPSIGKSNVDRRQAEIGEGSVRRRIYDNPYFEPQYGFPPEEDEDEQGESYTPRFSQHVSGNRAQKLLRPNSLRLASDSDAESDSRASSPNSTVSNTSTEGFGGIMSFASSLYRNHSTSFSLSNLTLPTKGAREKATPFPSLKVFGLNTLMEIVTEAGPGSGEGNRRALVDQKSSVIKHSPTVKREPPSPQGRSSNSSENQQFLKEVVHSVLDGQGVGWLNMKKVRRLLESEQLRVFVLSKLNRMVQSEDDARQDIIPDVEISRKVYKGMLDLLKCTVLSLEQSYAHAGLGGMASIFGLLEIAQTHYYSKEPDKRKRSPTESVNTPVGKDPGLAGRGDPKAMAQLRVPQLGPRAPSATGKGPKELDTRSLKEENFIASIELWNKHQEVKKQKALEKQRPEVIKPVFDLGETEEKKSQISADSGVSLTSSSQRTDQDSVIGVSPAVMIRSSSQDSEVSTVVSNSSGETLGADSDLSSNAGDGPGGEGSVHLASSRGTLSDSEIETNSATSTIFGKAHSLKPSIKEKLAGSPIRTSEDVSQRVYLYEGLLGRDKGSMWDQLEDAAMETFSISKERSTLWDQMQFWEDAFLDAVMLEREGMGMDQGPQEMIDRYLSLGEHDRKRLEDDEDRLLATLLHNLISYMLLMKVNKNDIRKKVRRLMGKSHIGLVYSQQINEVLDQLANLNGRDLSIWSSGSRHMKKQTFVVHAGTDTNGDIFFMEVCDDCVVLRSNIGTVYERWWYEKLINMTYCPKTKVLCLWRRNGSETQLNKFYTKKCRELYYCVKDSMERAAARQQSIKPGPELGGEFPVQDLKTGEGGLLQVTLEGINLKFMHNQVFIELNHIKKCNTVRGVFVLEEFVPEIKEVVSHKYKTPMAHEICYSVLCLFSYVAAVHSSEEDLRTPPRPVSS
Alternative Products
Event=Alternative splicing; Named isoforms=8; Name=1; Synonyms=IG20, IG20-FL; IsoId=Q8WXG6-1; Sequence=Displayed; Name=2; Synonyms=IG20, IG20-PA, IG20-PASV; IsoId=Q8WXG6-2; Sequence=VSP_052295, VSP_052296; Name=3; Synonyms=DENN, IG20-SV1, MADD; IsoId=Q8WXG6-3; Sequence=VSP_052294, VSP_052295, VSP_055676, VSP_052296; Name=4; Synonyms=IG20-SV2; IsoId=Q8WXG6-4; Sequence=VSP_052293, VSP_052295, VSP_052296; Name=5; Synonyms=DENN-SV, IG20-SV3; IsoId=Q8WXG6-5; Sequence=VSP_052293, VSP_052294, VSP_052295, VSP_052296; Name=6; Synonyms=IG20-SV4; IsoId=Q8WXG6-6; Sequence=VSP_052293, VSP_052294, VSP_052295, VSP_052296, VSP_052297, VSP_052298; Name=7; Synonyms=KIAA0358; IsoId=Q8WXG6-7; Sequence=VSP_052297, VSP_052298; Name=8; IsoId=Q8WXG6-8; Sequence=VSP_052293, VSP_052294, VSP_052295, VSP_044848, VSP_052296
Alternative Sequence
762..804; Missing (in isoform 4, isoform 5, isoform 6 and isoform 8); 885..904; Missing (in isoform 3, isoform 5, isoform 6 and isoform 8); 1121..1139; ELWNKHQEVKKQKALEKQR -> G (in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8); 1197..1200; Missing (in isoform 8); 1201; Missing (in isoform 3); 1291..1311; Missing (in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8); 1575..1582; VFIELNHI -> FLKLKKW (in isoform 6 and isoform 7); 1583..1647; Missing (in isoform 6 and isoform 7)
Domain & Motif Annotations
Compositional Bias
108..122; Basic and acidic residues; 128..141; Low complexity; 142..157; Polar residues; 158..167; Basic residues; 615..630; Acidic residues; 689..699; Polar residues; 700..712; Low complexity; 750..768; Basic and acidic residues; 790..804; Polar residues; 827..840; Low complexity; 932..941; Polar residues; 1158..1173; Polar residues; 1189..1207; Polar residues; 1234..1243; Polar residues
Domain (FT)
14..268; uDENN; 289..429; cDENN; 431..565; dDENN; 1340..1415; Death
Region
108..168; Disordered; 604..636; Disordered; 678..842; Disordered; 913..941; Disordered; 1051..1110; Disordered; 1146..1243; Disordered
Protein Families
MADD family
Sequence Similarities
Belongs to the MADD family.
Clinical Relevance5
Disease Involvement
Intellectual disability
Antibody
Interaction Protein
ENSG00000054356
Interaction Count
1
Interaction Dataset
intact_biogrid