GDAP1_HUMAN
Regulates the mitochondrial network by promoting mitochondrial fission. [View more on UniProt]
To display all evidence describing the interaction with a partner, click on the protein name left to the bars.
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 120 | Arg | Gln | Charcot-Marie-Toothdisease4A(CMT4A) | - |
| 161 | Arg | His | Charcot-Marie-Toothdisease4A(CMT4A) | - |
| 282 | Arg | Cys | Charcot-Marie-Toothdisease,recessiveintermediateA(CMTRIA) | - |
| 310 | Arg | Gln | Charcot-Marie-Toothdisease,axonal,withvocalcordparesis,autosomalrecessive(CMT2RV) | - |
| 256 | His | Arg | Charcot-Marie-Toothdisease,axonal,2K(CMT2K) | - |
| 282 | Arg | His | Charcot-Marie-Toothdisease,axonal,2K(CMT2K) | - |
| 120 | Arg | Gly | Charcot-Marie-Toothdisease,axonal,2K(CMT2K) | - |
| 120 | Arg | Trp | Charcot-Marie-Toothdisease,axonal,2K(CMT2K) | - |
| 123 | His | Arg | Charcot-Marie-Toothdisease,axonal,2K(CMT2K) | - |
| 156 | Ala | Gly | Charcot-Marie-Toothdisease,axonal,2K(CMT2K) | - |
| 310 | Arg | Trp | Charcot-Marie-Toothdisease,axonal,2K(CMT2K) | - |
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Molecular function
No data found.
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in GDAP1_HUMAN |
|---|---|---|---|---|
| GO:0008104 | protein localization | 50.0000 | 4 | yes |
| GO:0031323 | regulation of cellular metabolic process | 40.0000 | 4 | no |
| GO:0048522 | positive regulation of cellular process | 40.0000 | 4 | no |
| GO:0060255 | regulation of macromolecule metabolic process | 40.0000 | 4 | no |
| GO:0010646 | regulation of cell communication | 40.0000 | 4 | no |
| GO:0000266 | mitochondrial fission | 30.0000 | 6 | yes |
| GO:0006605 | protein targeting | 30.0000 | 4 | yes |
| GO:0006626 | protein targeting to mitochondrion | 30.0000 | 5 | yes |
| GO:0006996 | organelle organization | 30.0000 | 4 | yes |
| GO:0007005 | mitochondrion organization | 30.0000 | 5 | yes |
| GO:0008053 | mitochondrial fusion | 30.0000 | 6 | yes |
| GO:0014070 | response to organic cyclic compound | 30.0000 | 4 | yes |
| GO:0032526 | response to retinoic acid | 30.0000 | 4 | yes |
| GO:0033365 | protein localization to organelle | 30.0000 | 5 | yes |
| GO:0033993 | response to lipid | 30.0000 | 4 | yes |
| GO:0048284 | organelle fusion | 30.0000 | 5 | yes |
| GO:0048285 | organelle fission | 30.0000 | 5 | yes |
| GO:0070585 | protein localization to mitochondrion | 30.0000 | 6 | yes |
| GO:0071310 | cellular response to organic substance | 30.0000 | 4 | yes |
| GO:0071396 | cellular response to lipid | 30.0000 | 5 | yes |
| GO:0071407 | cellular response to organic cyclic compound | 30.0000 | 5 | yes |
| GO:0072594 | establishment of protein localization to organelle | 30.0000 | 4 | yes |
| GO:0072655 | establishment of protein localization to mitochondrion | 30.0000 | 5 | yes |
| GO:1901701 | cellular response to oxygen-containing compound | 30.0000 | 4 | yes |
| GO:0009889 | regulation of biosynthetic process | 30.0000 | 4 | no |
| GO:0010468 | regulation of gene expression | 30.0000 | 6 | no |
| GO:0010556 | regulation of macromolecule biosynthetic process | 30.0000 | 5 | no |
| GO:0031326 | regulation of cellular biosynthetic process | 30.0000 | 5 | no |
| GO:0042127 | regulation of cell population proliferation | 30.0000 | 4 | no |
| GO:0051246 | regulation of protein metabolic process | 30.0000 | 5 | no |
| GO:0080090 | regulation of primary metabolic process | 30.0000 | 4 | no |
| GO:0009966 | regulation of signal transduction | 30.0000 | 4 | no |
| GO:0048523 | negative regulation of cellular process | 30.0000 | 4 | no |
| GO:0051049 | regulation of transport | 30.0000 | 4 | no |
| GO:0030030 | cell projection organization | 30.0000 | 4 | no |
| GO:0071702 | organic substance transport | 30.0000 | 4 | no |
| GO:0071705 | nitrogen compound transport | 30.0000 | 4 | no |
| GO:0031670 | cellular response to nutrient | 20.0000 | 4 | yes |
| GO:0033273 | response to vitamin | 20.0000 | 4 | yes |
| GO:0033280 | response to vitamin D | 20.0000 | 4 | yes |
| GO:0071295 | cellular response to vitamin | 20.0000 | 5 | yes |
| GO:0071305 | cellular response to vitamin D | 20.0000 | 5 | yes |
Disease
No data found.
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| TBB5_HUMAN | [view interactions] | Low throughput | no | yes |
| FIS1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| GDAP1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| TMEDA_HUMAN | [view interactions] | High throughput | no | yes |
| AAPK1_HUMAN | [view interactions] | High throughput | no | no |
| HSC20_HUMAN | [view interactions] | High throughput | no | yes |
| NXP20_HUMAN | [view interactions] | High throughput | no | yes |
| LIPR1_HUMAN | [view interactions] | High throughput | no | no |
| TM14B_HUMAN | [view interactions] | High throughput | no | no |
| ABHGA_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| APOD_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| STAR4_HUMAN | [view interactions] | High throughput | no | yes |
| TM218_HUMAN | [view interactions] | High throughput | no | no |
| CLCN7_HUMAN | [view interactions] | High throughput | no | yes |
| BIRC5_HUMAN | [view interactions] | High throughput | no | no |
| BOK_HUMAN | [view interactions] | High throughput | no | no |
| SNX2_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| M3K5_HUMAN | [view interactions] | High throughput | no | yes |
| HXC4_HUMAN | [view interactions] | High throughput | no | no |
| ZDH17_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| AAMDC_HUMAN | [view interactions] | High throughput | no | no |
| CEP55_HUMAN | [view interactions] | High throughput | no | yes |
| SKI8_HUMAN | [view interactions] | High throughput | no | yes |
| HUMMR_HUMAN | [view interactions] | High throughput | no | yes |
| ZN697_HUMAN | [view interactions] | High throughput | no | no |
| MOFA1_HUMAN | [view interactions] | High throughput | no | yes |
| VP37A_HUMAN | [view interactions] | High throughput | no | yes |
| IQUB_HUMAN | [view interactions] | High throughput | no | no |
| FOXR1_HUMAN | [view interactions] | High throughput | no | no |
| KRA81_HUMAN | [view interactions] | High throughput | no | no |
| SPT12_HUMAN | [view interactions] | High throughput | no | no |
| CLPP_HUMAN | [view interactions] | High throughput | no | yes |
| TAGL2_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| DDX20_HUMAN | [view interactions] | High throughput | no | no |
| ATX3_HUMAN | [view interactions] | High throughput | no | yes |
| DCBD2_HUMAN | [view interactions] | High throughput | no | yes |
| GLYM_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| NXF1_HUMAN | [view interactions] | High throughput | no | yes |
| SUZ12_HUMAN | [view interactions] | High throughput | no | no |
| NTRK1_HUMAN | [view interactions] | High throughput | no | yes |
| EYA2_HUMAN | [view interactions] | High throughput | no | yes |
| MINP1_HUMAN | [view interactions] | High throughput | no | yes |
| TRI25_HUMAN | [view interactions] | High throughput | no | yes |
| ESR2_HUMAN | [view interactions] | High throughput | no | no |
| CTBP2_HUMAN | [view interactions] | High throughput | no | no |
| INS_HUMAN | [view interactions] | High throughput | no | no |
| SC6A4_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| RAMP2_HUMAN | [view interactions] | High throughput | no | no |
| CBPQ_HUMAN | [view interactions] | High throughput | no | no |
| OS9_HUMAN | [view interactions] | High throughput | no | yes |
| ASM_HUMAN | [view interactions] | High throughput | no | no |
| TNFL8_HUMAN | [view interactions] | High throughput | no | no |
| F174A_HUMAN | [view interactions] | High throughput | no | yes |
| TRI67_HUMAN | [view interactions] | High throughput | no | no |
| FAF2_HUMAN | [view interactions] | High throughput | no | yes |
| HBB_HUMAN | [view interactions] | High throughput | no | no |
| SAP_HUMAN | [view interactions] | High throughput | no | yes |
| RFA1_HUMAN | [view interactions] | High throughput | no | yes |
| RFA2_HUMAN | [view interactions] | High throughput | no | yes |