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,recessive,intermediatetype,A(CMTRIA) | - |
310 | Arg | Gln | Charcot-Marie-Toothdisease,axonal,withvocalcordparesis,autosomalrecessive(CMT2RV) | - |
256 | His | Arg | Charcot-Marie-Toothdisease2K(CMT2K) | - |
282 | Arg | His | Charcot-Marie-Toothdisease2K(CMT2K) | - |
120 | Arg | Gly | Charcot-Marie-Toothdisease2K(CMT2K) | - |
120 | Arg | Trp | Charcot-Marie-Toothdisease2K(CMT2K) | - |
123 | His | Arg | Charcot-Marie-Toothdisease2K(CMT2K) | - |
156 | Ala | Gly | Charcot-Marie-Toothdisease2K(CMT2K) | - |
310 | Arg | Trp | Charcot-Marie-Toothdisease2K(CMT2K) | - |
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Molecular function
Term | Name | % | Distance from the top of the tree | Annotated in GDAP1_HUMAN |
---|---|---|---|---|
GO:0042803 | protein homodimerization activity | 37.5000 | 4 | no |
GO:0017076 | purine nucleotide binding | 31.2500 | 4 | no |
GO:0032555 | purine ribonucleotide binding | 31.2500 | 4 | no |
GO:0016462 | pyrophosphatase activity | 25.0000 | 5 | no |
GO:0016818 | hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | 25.0000 | 4 | no |
GO:0017111 | ribonucleoside triphosphate phosphatase activity | 25.0000 | 6 | no |
GO:0030554 | adenyl nucleotide binding | 25.0000 | 5 | no |
GO:0032559 | adenyl ribonucleotide binding | 25.0000 | 5 | no |
GO:0035639 | purine ribonucleoside triphosphate binding | 25.0000 | 4 | no |
Biological process
Term | Name | % | Distance from top the of the tree | Annotated in GDAP1_HUMAN |
---|---|---|---|---|
GO:0071702 | organic substance transport | 50.0000 | 4 | yes |
GO:0006996 | organelle organization | 43.7500 | 4 | yes |
GO:0008104 | protein localization | 37.5000 | 4 | yes |
GO:0071705 | nitrogen compound transport | 37.5000 | 4 | yes |
GO:0048523 | negative regulation of cellular process | 37.5000 | 4 | no |
GO:0006886 | intracellular protein transport | 31.2500 | 4 | yes |
GO:0015031 | protein transport | 31.2500 | 4 | yes |
GO:0048522 | positive regulation of cellular process | 31.2500 | 4 | no |
GO:0060255 | regulation of macromolecule metabolic process | 31.2500 | 4 | no |
GO:0010646 | regulation of cell communication | 31.2500 | 4 | no |
GO:0006605 | protein targeting | 25.0000 | 5 | yes |
GO:0006626 | protein targeting to mitochondrion | 25.0000 | 5 | yes |
GO:0006839 | mitochondrial transport | 25.0000 | 4 | yes |
GO:0007005 | mitochondrion organization | 25.0000 | 5 | yes |
GO:0008053 | mitochondrial fusion | 25.0000 | 6 | yes |
GO:0014070 | response to organic cyclic compound | 25.0000 | 4 | yes |
GO:0033365 | protein localization to organelle | 25.0000 | 5 | yes |
GO:0043603 | cellular amide metabolic process | 25.0000 | 4 | yes |
GO:0048284 | organelle fusion | 25.0000 | 5 | yes |
GO:0048285 | organelle fission | 25.0000 | 5 | yes |
GO:0070585 | protein localization to mitochondrion | 25.0000 | 6 | yes |
GO:0072594 | establishment of protein localization to organelle | 25.0000 | 4 | yes |
GO:0072655 | establishment of protein localization to mitochondrion | 25.0000 | 5 | yes |
GO:0009893 | positive regulation of metabolic process | 25.0000 | 4 | no |
GO:0010468 | regulation of gene expression | 25.0000 | 5 | no |
GO:0019752 | carboxylic acid metabolic process | 25.0000 | 5 | no |
GO:0031323 | regulation of cellular metabolic process | 25.0000 | 4 | no |
GO:0043436 | oxoacid metabolic process | 25.0000 | 4 | no |
GO:0080090 | regulation of primary metabolic process | 25.0000 | 4 | no |
GO:0010648 | negative regulation of cell communication | 25.0000 | 5 | no |
GO:0023057 | negative regulation of signaling | 25.0000 | 4 | no |
GO:0051049 | regulation of transport | 25.0000 | 4 | no |
GO:0000266 | mitochondrial fission | 18.7500 | 6 | yes |
GO:0031667 | response to nutrient levels | 18.7500 | 4 | yes |
GO:0032526 | response to retinoic acid | 18.7500 | 4 | yes |
GO:0033993 | response to lipid | 18.7500 | 4 | yes |
GO:0071310 | cellular response to organic substance | 18.7500 | 4 | yes |
GO:0071396 | cellular response to lipid | 18.7500 | 5 | yes |
GO:0071407 | cellular response to organic cyclic compound | 18.7500 | 5 | yes |
GO:1901701 | cellular response to oxygen-containing compound | 18.7500 | 4 | yes |
GO:0006518 | peptide metabolic process | 12.5000 | 4 | yes |
GO:0006749 | glutathione metabolic process | 12.5000 | 4 | yes |
GO:0031669 | cellular response to nutrient levels | 12.5000 | 4 | yes |
GO:0031670 | cellular response to nutrient | 12.5000 | 4 | yes |
GO:0033273 | response to vitamin | 12.5000 | 4 | yes |
GO:0033280 | response to vitamin D | 12.5000 | 4 | yes |
GO:0071295 | cellular response to vitamin | 12.5000 | 5 | yes |
GO:0071305 | cellular response to vitamin D | 12.5000 | 5 | yes |
Disease
Term | Name | % | Distance from top the of the tree | Annotated in GDAP1_HUMAN |
---|---|---|---|---|
DOID:0050539 | Charcot-Marie-Tooth disease type 2 | 18.7500 | 7 | yes |
DOID:10595 | Charcot-Marie-Tooth disease | 18.7500 | 6 | yes |
DOID:440 | neuromuscular disease | 18.7500 | 5 | yes |
DOID:574 | peripheral nervous system disease | 18.7500 | 3 | yes |
DOID:870 | neuropathy | 18.7500 | 4 | yes |
DOID:0050541 | Charcot-Marie-Tooth disease type 4 | 12.5000 | 7 | yes |
DOID:0050543 | Charcot-Marie-Tooth disease intermediate type | 12.5000 | 7 | yes |
DOID:0110167 | Charcot-Marie-Tooth disease axonal type 2K | 12.5000 | 8 | yes |
DOID:0110185 | Charcot-Marie-Tooth disease type 4A | 12.5000 | 8 | yes |
DOID:0110201 | Charcot-Marie-Tooth disease recessive intermediate A | 12.5000 | 8 | yes |
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 |
SNX2_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
HXC4_HUMAN | [view interactions] | High throughput | no | no |
BOK_HUMAN | [view interactions] | High throughput | no | no |
BIRC5_HUMAN | [view interactions] | High throughput | no | no |
M3K5_HUMAN | [view interactions] | High throughput | no | yes |
SPT12_HUMAN | [view interactions] | High throughput | no | no |
KRA81_HUMAN | [view interactions] | High throughput | no | no |
FOXR1_HUMAN | [view interactions] | High throughput | no | no |
IQUB_HUMAN | [view interactions] | High throughput | no | no |
VP37A_HUMAN | [view interactions] | High throughput | no | yes |
MOFA1_HUMAN | [view interactions] | High throughput | no | yes |
ZN697_HUMAN | [view interactions] | High throughput | no | no |
HUMMR_HUMAN | [view interactions] | High throughput | no | yes |
WDR61_HUMAN | [view interactions] | High throughput | no | yes |
CEP55_HUMAN | [view interactions] | High throughput | no | yes |
AAMDC_HUMAN | [view interactions] | High throughput | no | no |
ZDH17_HUMAN | [view interactions] | High throughput | no | yes |
DDX20_HUMAN | [view interactions] | High throughput | no | no |
TAGL2_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
CLPP_HUMAN | [view interactions] | High throughput | no | yes |
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 |
FAF2_HUMAN | [view interactions] | High throughput | no | yes |
HBB_HUMAN | [view interactions] | High throughput | no | no |
SAP_HUMAN | [view interactions] | High throughput | no | yes |
PEX16_HUMAN | [view interactions] | Computational | no | yes |
PEX14_HUMAN | [view interactions] | Computational | no | yes |
ABCD1_HUMAN | [view entry] [view interactions] | Computational | yes | no |
ATAD1_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
PXMP2_HUMAN | [view interactions] | Computational | no | no |
PEX26_HUMAN | [view interactions] | Computational | no | yes |
ABCD3_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
ABCD2_HUMAN | [view interactions] | Computational | no | no |
PEX2_HUMAN | [view interactions] | Computational | no | yes |
MFN1_HUMAN | [view interactions] | Computational | no | yes |
S3TC2_HUMAN | [view interactions] | Computational | no | yes |
MYP2_HUMAN | [view interactions] | Computational | no | no |
AL3A2_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
PM34_HUMAN | [view interactions] | Computational | no | yes |
PX11B_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
PXMP4_HUMAN | [view interactions] | Computational | no | yes |
ACBD5_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
MFN2_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
PEX13_HUMAN | [view interactions] | Computational | no | yes |
PEX19_HUMAN | [view interactions] | Computational | no | yes |
MYP0_HUMAN | [view interactions] | Computational | no | no |