MADD_HUMAN
Evidence for PS localization
Functions
Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family (PubMed, PubMed). Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms (PubMed, PubMed). 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 . Plays a role in synaptic vesicle formation and in vesicle trafficking at the neuromuscular junction . Involved in upregulating a post-docking step of synaptic exocytosis in central synapses . Probably by binding to the motor proteins KIF1B and KIF1A, mediates motor-dependent transport of GTP-RAB3A-positive vesicles to the presynaptic nerve terminals . Plays a role in TNFA-mediated activation of the MAPK pathway, including ERK1/2 (PubMed). May link TNFRSF1A with MAP kinase activation (PubMed). May be involved in the regulation of TNFA-induced apoptosis (PubMed, PubMed). [View more on UniProt]
Protein features
Binary interactions with known binding regions
Interacting region for partners were not defined.
Network
Isoforms
Disease-causing germline mutations
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 257 | Ser | Phe | DEEAHsyndrome(DEEAH) | - |
| 305 | Gly | Val | DEEAHsyndrome(DEEAH) | - |
| 354 | Pro | Leu | Neurodevelopmentaldisorderwithdysmorphicfacies,impairedspeech,andhypotonia(NEDDISH) | - |
| 1040 | Leu | Arg | DEEAHsyndrome(DEEAH) | - |
Linear motifs
| ELM instance | Name | Type | Start | End | Partner |
|---|---|---|---|---|---|
| ELMI003071 | DOC_MAPK_JIP1_4 | DOC | 810 | 816 | - |
| ELMI003071 | DOC_MAPK_JIP1_4 | DOC | 810 | 816 | - |
Fingerprint
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in MADD_HUMAN |
|---|---|---|---|---|
| GO:0043169 | cation binding | 48.1481 | 4 | no |
| GO:0046872 | metal ion binding | 48.1481 | 5 | no |
| GO:0043168 | anion binding | 44.4444 | 4 | no |
| GO:0000166 | nucleotide binding | 37.0370 | 4 | no |
| GO:0017076 | purine nucleotide binding | 37.0370 | 5 | no |
| GO:0032555 | purine ribonucleotide binding | 37.0370 | 4 | no |
| GO:0035639 | purine ribonucleoside triphosphate binding | 37.0370 | 4 | no |
| GO:0016301 | kinase activity | 25.9259 | 4 | no |
| GO:0016773 | phosphotransferase activity, alcohol group as acceptor | 25.9259 | 4 | no |
| GO:0005524 | ATP binding | 22.2222 | 5 | no |
| GO:0030554 | adenyl nucleotide binding | 22.2222 | 6 | no |
| GO:0032559 | adenyl ribonucleotide binding | 22.2222 | 5 | no |
| GO:0019900 | kinase binding | 22.2222 | 4 | no |
| GO:0019901 | protein kinase binding | 22.2222 | 5 | no |
| GO:0019887 | protein kinase regulator activity | 14.8148 | 4 | yes |
| GO:0019209 | kinase activator activity | 11.1111 | 4 | yes |
| GO:0030295 | protein kinase activator activity | 11.1111 | 5 | yes |
| GO:0005085 | guanyl-nucleotide exchange factor activity | 7.4074 | 5 | yes |
| GO:0030695 | GTPase regulator activity | 7.4074 | 4 | yes |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in MADD_HUMAN |
|---|---|---|---|---|
| GO:0048522 | positive regulation of cellular process | 66.6667 | 4 | yes |
| GO:0051128 | regulation of cellular component organization | 55.5556 | 4 | no |
| GO:0010646 | regulation of cell communication | 51.8519 | 4 | yes |
| GO:0006996 | organelle organization | 48.1481 | 4 | no |
| GO:0031323 | regulation of cellular metabolic process | 48.1481 | 4 | no |
| GO:0060255 | regulation of macromolecule metabolic process | 48.1481 | 4 | no |
| GO:0080090 | regulation of primary metabolic process | 48.1481 | 4 | no |
| GO:0009966 | regulation of signal transduction | 48.1481 | 4 | yes |
| GO:0051049 | regulation of transport | 44.4444 | 4 | no |
| GO:0048523 | negative regulation of cellular process | 44.4444 | 4 | no |
| GO:0009893 | positive regulation of metabolic process | 40.7407 | 4 | no |
| GO:0036211 | protein modification process | 40.7407 | 4 | no |
| GO:0043412 | macromolecule modification | 40.7407 | 4 | no |
| GO:0009889 | regulation of biosynthetic process | 37.0370 | 4 | no |
| GO:0010556 | regulation of macromolecule biosynthetic process | 37.0370 | 5 | no |
| GO:0031326 | regulation of cellular biosynthetic process | 37.0370 | 5 | no |
| GO:0051246 | regulation of protein metabolic process | 37.0370 | 5 | no |
| GO:0010468 | regulation of gene expression | 33.3333 | 6 | no |
| GO:0010604 | positive regulation of macromolecule metabolic process | 33.3333 | 5 | no |
| GO:0019219 | regulation of nucleobase-containing compound metabolic process | 33.3333 | 5 | no |
| GO:0031325 | positive regulation of cellular metabolic process | 33.3333 | 5 | no |
| GO:0022607 | cellular component assembly | 33.3333 | 4 | no |
| GO:1902531 | regulation of intracellular signal transduction | 29.6296 | 5 | yes |
| GO:0006355 | regulation of DNA-templated transcription | 29.6296 | 7 | no |
| GO:0006796 | phosphate-containing compound metabolic process | 29.6296 | 4 | no |
| GO:0016310 | phosphorylation | 29.6296 | 5 | no |
| GO:0051252 | regulation of RNA metabolic process | 29.6296 | 5 | no |
| GO:2001141 | regulation of RNA biosynthetic process | 29.6296 | 6 | no |
| GO:0048584 | positive regulation of response to stimulus | 25.9259 | 4 | yes |
| GO:0022603 | regulation of anatomical structure morphogenesis | 25.9259 | 4 | no |
| GO:0031399 | regulation of protein modification process | 25.9259 | 6 | no |
| GO:0033043 | regulation of organelle organization | 25.9259 | 5 | no |
| GO:0051130 | positive regulation of cellular component organization | 25.9259 | 5 | no |
| GO:0051247 | positive regulation of protein metabolic process | 25.9259 | 6 | no |
| GO:0060341 | regulation of cellular localization | 25.9259 | 4 | no |
| GO:0060627 | regulation of vesicle-mediated transport | 25.9259 | 4 | no |
| GO:2000145 | regulation of cell motility | 25.9259 | 4 | no |
| GO:0009894 | regulation of catabolic process | 25.9259 | 4 | no |
| GO:0051046 | regulation of secretion | 25.9259 | 5 | no |
| GO:0009968 | negative regulation of signal transduction | 25.9259 | 5 | no |
| GO:0010648 | negative regulation of cell communication | 25.9259 | 5 | no |
| GO:0023057 | negative regulation of signaling | 25.9259 | 4 | no |
| GO:0048585 | negative regulation of response to stimulus | 25.9259 | 4 | no |
| GO:0010647 | positive regulation of cell communication | 25.9259 | 5 | yes |
| GO:0023056 | positive regulation of signaling | 25.9259 | 4 | yes |
| GO:0006468 | protein phosphorylation | 22.2222 | 5 | no |
| GO:0031401 | positive regulation of protein modification process | 22.2222 | 7 | no |
| GO:0010038 | response to metal ion | 22.2222 | 4 | no |
| GO:0071241 | cellular response to inorganic substance | 22.2222 | 4 | no |
| GO:0071248 | cellular response to metal ion | 22.2222 | 5 | no |
| GO:1903530 | regulation of secretion by cell | 22.2222 | 4 | no |
| GO:0009892 | negative regulation of metabolic process | 22.2222 | 4 | no |
| GO:0010605 | negative regulation of macromolecule metabolic process | 22.2222 | 5 | no |
| GO:0031324 | negative regulation of cellular metabolic process | 22.2222 | 5 | no |
| GO:0043933 | protein-containing complex organization | 22.2222 | 4 | no |
| GO:0051241 | negative regulation of multicellular organismal process | 22.2222 | 4 | no |
| GO:0065003 | protein-containing complex assembly | 22.2222 | 5 | no |
| GO:0071310 | cellular response to organic substance | 22.2222 | 4 | no |
| GO:0030334 | regulation of cell migration | 22.2222 | 5 | no |
| GO:0009967 | positive regulation of signal transduction | 22.2222 | 5 | yes |
| GO:0051726 | regulation of cell cycle | 18.5185 | 4 | yes |
| GO:0042981 | regulation of apoptotic process | 18.5185 | 5 | yes |
| GO:0043067 | regulation of programmed cell death | 18.5185 | 4 | yes |
| GO:0043408 | regulation of MAPK cascade | 18.5185 | 6 | yes |
| GO:1902533 | positive regulation of intracellular signal transduction | 14.8148 | 6 | yes |
| GO:0051056 | regulation of small GTPase mediated signal transduction | 7.4074 | 6 | yes |
| GO:2001233 | regulation of apoptotic signaling pathway | 7.4074 | 5 | yes |
Disease
No data found.
All partners
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| PTPRN_HUMAN | [view interactions] | Low throughput | no | yes |
| PIDD1_HUMAN | [view interactions] | Low throughput | no | yes |
| TNR1A_HUMAN | [view interactions] | Low throughput | no | yes |
| VP13D_HUMAN | [view interactions] | High throughput | no | no |
| 1433Z_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RIPK4_HUMAN | [view interactions] | High throughput | no | no |
| MTMR8_HUMAN | [view interactions] | High throughput | no | no |
| PTPRB_HUMAN | [view interactions] | High throughput | no | yes |
| TR150_HUMAN | [view interactions] | High throughput | no | yes |
| NUP37_HUMAN | [view interactions] | High throughput | no | yes |
| SRCN1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| POTE1_HUMAN | [view interactions] | High throughput | no | no |
| XPO1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ITM2B_HUMAN | [view interactions] | High throughput | no | yes |
| HDAC4_HUMAN | [view interactions] | High throughput | no | yes |
| RBCC1_HUMAN | [view interactions] | High throughput | no | no |
| WNK1_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| PCNT_HUMAN | [view interactions] | High throughput | no | yes |
| RBM11_HUMAN | [view interactions] | High throughput | no | no |
| 1433F_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| GRK5_HUMAN | [view interactions] | High throughput | no | yes |
| UBC_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| GLYM_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SOCS6_HUMAN | [view interactions] | High throughput | no | yes |
| NXPH2_HUMAN | [view interactions] | High throughput | no | no |
| ANM6_HUMAN | [view interactions] | High throughput | no | yes |
| CAB45_HUMAN | [view interactions] | High throughput | no | no |
| HLAE_HUMAN | [view interactions] | High throughput | no | no |
| SYT6_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| NTRK1_HUMAN | [view interactions] | High throughput | no | yes |
| SYT12_HUMAN | [view interactions] | High throughput | no | yes |
| BBS7_HUMAN | [view interactions] | High throughput | no | no |
| SYT3_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| DOCK5_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| SNX21_HUMAN | [view interactions] | High throughput | no | yes |
| TSYL6_HUMAN | [view interactions] | High throughput | no | no |
| LOX5_HUMAN | [view interactions] | High throughput | no | no |
| ESR2_HUMAN | [view interactions] | High throughput | no | no |
| VIR_HUMAN | [view interactions] | High throughput | no | yes |
| APEX1_HUMAN | [view interactions] | High throughput | no | yes |
| MK01_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| KCC2A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RBM39_HUMAN | [view interactions] | High throughput | no | yes |
| RIGI_HUMAN | [view interactions] | High throughput | no | yes |
| TBB8_HUMAN | [view interactions] | High throughput | no | no |
| PI42B_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| PI42A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TAC2N_HUMAN | [view interactions] | High throughput | no | yes |
| SYT2_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| ECT2_HUMAN | [view interactions] | High throughput | no | no |
| TBB3_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TBB4B_HUMAN | [view interactions] | High throughput | no | yes |
| PI42C_HUMAN | [view interactions] | High throughput | no | yes |
| TYK2_HUMAN | [view interactions] | High throughput | no | no |
| TBA4A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| COT2_HUMAN | [view interactions] | High throughput | no | no |
| MTMR4_HUMAN | [view interactions] | High throughput | no | no |
| SOCS1_HUMAN | [view interactions] | High throughput | no | yes |
| RN138_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| SYT9_HUMAN | [view interactions] | High throughput | no | no |
| CDK20_HUMAN | [view interactions] | High throughput | no | yes |
| DHDH_HUMAN | [view interactions] | High throughput | no | no |
| TBB2A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| LY86_HUMAN | [view interactions] | High throughput | no | no |
| SPCS3_HUMAN | [view interactions] | High throughput | no | yes |
| F174A_HUMAN | [view interactions] | High throughput | no | yes |
| MTMR9_HUMAN | [view interactions] | High throughput | no | no |
| D2HDH_HUMAN | [view interactions] | High throughput | no | no |
| HUMMR_HUMAN | [view interactions] | High throughput | no | yes |
| FXRD2_HUMAN | [view interactions] | High throughput | no | yes |
| NUBP2_HUMAN | [view interactions] | High throughput | no | yes |
| AL3B1_HUMAN | [view interactions] | High throughput | no | yes |
| MP2K2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TRFM_HUMAN | [view interactions] | High throughput | no | yes |
| RHBT1_HUMAN | [view interactions] | High throughput | no | yes |
| CSK2B_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CUL3_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PRKN_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TRI67_HUMAN | [view interactions] | High throughput | no | no |
| TOP3B_HUMAN | [view interactions] | High throughput | no | no |
| PRIO_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DEN1C_HUMAN | [view interactions] | High throughput | no | no |
| CCD27_HUMAN | [view interactions] | High throughput | no | no |
| DEN4C_HUMAN | [view interactions] | High throughput | no | yes |
| DEN5A_HUMAN | [view interactions] | High throughput | no | yes |
| DEN5B_HUMAN | [view interactions] | High throughput | no | yes |
| DEN2B_HUMAN | [view interactions] | High throughput | no | yes |
| ZN625_HUMAN | [view interactions] | High throughput | no | no |
| RAB3B_HUMAN | [view interactions] | High throughput | no | no |
| RAB7A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| STING_HUMAN | [view interactions] | High throughput | no | yes |
| CBPZ_HUMAN | [view interactions] | High throughput | no | no |
| TGON2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |