Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

GDAP1_HUMAN

Regulates the mitochondrial network by promoting mitochondrial fission. [View more on UniProt]

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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