MADD
entrez
8567
canonical
uniprot
Q8WXG6
canonical
ensembl
ENSG00000110514
resolver
ensp
ENSP00000304505
resolver
ensp
ENSP00000310933
resolver
ensp
ENSP00000343902
resolver
ensp
ENSP00000378745
resolver
ensp
ENSP00000378753
resolver
ensp
ENSP00000384204
resolver
ensp
ENSP00000384287
resolver
ensp
ENSP00000384435
resolver
ensp
ENSP00000385585
resolver
ensp
ENSP00000489300
resolver
ensp
ENSP00000516602
resolver
ensp
ENSP00000516603
resolver
ensp
ENSP00000516604
resolver
ensp
ENSP00000516605
resolver
ensp
ENSP00000516606
resolver
ensp
ENSP00000516607
resolver
ensp
ENSP00000516608
resolver
ensp
ENSP00000578750
resolver
ensp
ENSP00000578754
resolver
ensp
ENSP00000578758
resolver
ensp
ENSP00000578759
resolver
ensp
ENSP00000578760
resolver
ensp
ENSP00000578761
resolver
ensp
ENSP00000578764
resolver
ensp
ENSP00000578766
resolver
ensp
ENSP00000578767
resolver
ensp
ENSP00000578769
resolver
ensp
ENSP00000592784
resolver
ensp
ENSP00000592787
resolver
ensp
ENSP00000592791
resolver
ensp
ENSP00000592792
resolver
ensp
ENSP00000615180
resolver
ensp
ENSP00000615187
resolver
ensp
ENSP00000615193
resolver
ensp
ENSP00000615194
resolver
ensp
ENSP00000678620
resolver
ensp
ENSP00000725266
resolver
ensp
ENSP00000725268
resolver
ensp
ENSP00000725269
resolver
ensp
ENSP00000725270
resolver
ensp
ENSP00000725271
resolver
ensp
ENSP00000746586
resolver
enst
ENST00000342922
resolver
enst
ENST00000526603
resolver
enst
ENST00000634938
resolver
enst
ENST00000706886
resolver
enst
ENST00000706887
resolver
enst
ENST00000706889
resolver
enst
ENST00000706890
resolver
enst
ENST00000706891
resolver
enst
ENST00000908707
resolver
enst
ENST00000922725
resolver
genesymbol
MADD
resolver
genesymbol_syn
DENN
resolver
genesymbol_syn
IG20
resolver
genesymbol_syn
KIAA0358
resolver
hgnc
HGNC:6766
resolver
uniprot
A0A0A0MRB5
resolver
uniprot
A0A0U1RR25
resolver
uniprot
A0A9L9PXF1
resolver
uniprot
A0A9L9PXN0
resolver
uniprot
A0A9L9PXZ0
resolver
uniprot
A0A9L9PXZ3
resolver
uniprot
A0A9L9PY18
resolver
uniprot
A0A9L9PY22
resolver
uniprot
A8K8S7
resolver
uniprot
B5MEE5
resolver
uniprot
D3DQR4
resolver
uniprot
O15065
resolver
uniprot
O15293
resolver
uniprot
Q15732
resolver
uniprot
Q15741
resolver
uniprot
Q8IWD7
resolver
uniprot
Q8WXG3
resolver
uniprot
Q8WXG4
resolver
uniprot
Q8WXG5
resolver
uniprot
Q8WZ63
resolver
uniprot_entry
A0A0A0MRB5_HUMAN
resolver
uniprot_entry
A0A0U1RR25_HUMAN
resolver
uniprot_entry
A0A9L9PXF1_HUMAN
resolver
uniprot_entry
A0A9L9PXN0_HUMAN
resolver
uniprot_entry
A0A9L9PXZ0_HUMAN
resolver
uniprot_entry
A0A9L9PXZ3_HUMAN
resolver
uniprot_entry
A0A9L9PY18_HUMAN
resolver
uniprot_entry
A0A9L9PY22_HUMAN
resolver
uniprot_entry
MADD_HUMAN
resolver
uniprot_sec
A8K8S7
resolver
uniprot_sec
B5MEE5
resolver
uniprot_sec
D3DQR4
resolver
uniprot_sec
O15065
resolver
uniprot_sec
O15293
resolver
uniprot_sec
Q15732
resolver
uniprot_sec
Q15741
resolver
uniprot_sec
Q8IWD7
resolver
uniprot_sec
Q8WXG3
resolver
uniprot_sec
Q8WXG4
resolver
uniprot_sec
Q8WXG5
resolver
uniprot_sec
Q8WZ63
resolver
amino_acid_sequence
MVQKKKFCPRLLDYLVIVGARHPSSDSVAQTPELLRRYPLEDHTEFPLPPDVVFFCQPEGCLSVRQRRMSLRDDTSFVFTLTDKDTGVTRYGICVNFYRSFQKRISKEKGEGGAGSRGKEGTHATCASEEGGTESSESGSSLQPLSADSTPDVNQSPRGKRRAKAGSRSRNSTLTSLCVLSHYPFFSTFRECLYTLKRLVDCCSERLLGKKLGIPRGVQRDTMWRIFTGSLLVEEKSSALLHDLREIEAWIYRLLRSPVPVSGQKRVDIEVLPQELQPALTFALPDPSRFTLVDFPLHLPLELLGVDACLQVLTCILLEHKVVLQSRDYNALSMSVMAFVAMIYPLEYMFPVIPLLPTCMASAEQLLLAPTPYIIGVPASFFLYKLDFKMPDDVWLVDLDSNRVIAPTNAEVLPILPEPESLELKKHLKQALASMSLNTQPILNLEKFHEGQEIPLLLGRPSNDLQSTPSTEFNPLIYGNDVDSVDVATRVAMVRFFNSANVLQGFQMHTRTLRLFPRPVVAFQAGSFLASRPRQTPFAEKLARTQAVEYFGEWILNPTNYAFQRIHNNMFDPALIGDKPKWYAHQLQPIHYRVYDSNSQLAEALSVPPERDSDSEPTDDSGSDSMDYDDSSSSYSSLGDFVSEMMKCDINGDTPNVDPLTHAALGDASEVEIDELQNQKEAEEPGPDSENSQENPPLRSSSSTTASSSPSTVIHGANSEPADSTEMDDKAAVGVSKPLPSVPPSIGKSNVDRRQAEIGEGSVRRRIYDNPYFEPQYGFPPEEDEDEQGESYTPRFSQHVSGNRAQKLLRPNSLRLASDSDAESDSRASSPNSTVSNTSTEGFGGIMSFASSLYRNHSTSFSLSNLTLPTKGAREKATPFPSLKVFGLNTLMEIVTEAGPGSGEGNRRALVDQKSSVIKHSPTVKREPPSPQGRSSNSSENQQFLKEVVHSVLDGQGVGWLNMKKVRRLLESEQLRVFVLSKLNRMVQSEDDARQDIIPDVEISRKVYKGMLDLLKCTVLSLEQSYAHAGLGGMASIFGLLEIAQTHYYSKEPDKRKRSPTESVNTPVGKDPGLAGRGDPKAMAQLRVPQLGPRAPSATGKGPKELDTRSLKEENFIASIELWNKHQEVKKQKALEKQRPEVIKPVFDLGETEEKKSQISADSGVSLTSSSQRTDQDSVIGVSPAVMIRSSSQDSEVSTVVSNSSGETLGADSDLSSNAGDGPGGEGSVHLASSRGTLSDSEIETNSATSTIFGKAHSLKPSIKEKLAGSPIRTSEDVSQRVYLYEGLLGRDKGSMWDQLEDAAMETFSISKERSTLWDQMQFWEDAFLDAVMLEREGMGMDQGPQEMIDRYLSLGEHDRKRLEDDEDRLLATLLHNLISYMLLMKVNKNDIRKKVRRLMGKSHIGLVYSQQINEVLDQLANLNGRDLSIWSSGSRHMKKQTFVVHAGTDTNGDIFFMEVCDDCVVLRSNIGTVYERWWYEKLINMTYCPKTKVLCLWRRNGSETQLNKFYTKKCRELYYCVKDSMERAAARQQSIKPGPELGGEFPVQDLKTGEGGLLQVTLEGINLKFMHNQVFIELNHIKKCNTVRGVFVLEEFVPEIKEVVSHKYKTPMAHEICYSVLCLFSYVAAVHSSEEDLRTPPRPVSS
uniprot
proteins
disease_involvement
DISEASE: DEEAH syndrome (DEEAH) [MIM:619004]: An autosomal recessive disorder characterized by moderate to severe global developmental delay, impaired intellectual development, poor or absent speech, and endocrine, pancreatic exocrine and autonomic dysfunction, as well as hematologic abnormalities. Additional features include facial dysmorphism, seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur. {ECO:0000269|PubMed:32761064}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) [MIM:619005]: An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. {ECO:0000269|PubMed:28940097, ECO:0000269|PubMed:32761064}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family (PubMed:18559336, PubMed:20937701). Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms (PubMed:18559336, PubMed:20937701). 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). {ECO:0000250|UniProtKB:O08873, ECO:0000250|UniProtKB:Q80U28, ECO:0000269|PubMed:11577081, ECO:0000269|PubMed:18559336, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:32761064, ECO:0000269|PubMed:9115275}.
uniprot
proteins
mass_dalton
183303
uniprot
proteins
protein_family
MADD family
uniprot
proteins
pubmed
10825539
uniprot
proteins
pubmed
11577081
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14716293
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16959763
uniprot
proteins
pubmed
18559336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20937701
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28940097
uniprot
proteins
pubmed
29288388
uniprot
proteins
pubmed
32761064
uniprot
proteins
pubmed
8988362
uniprot
proteins
pubmed
9115275
uniprot
proteins
pubmed
9205841
uniprot
proteins
pubmed
9796103
uniprot
proteins
sequence_length
1647
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8988362}. Cytoplasm {ECO:0000269|PubMed:8988362}. Cell projection, axon {ECO:0000250|UniProtKB:Q80U28}.
uniprot
proteins