GDAP1
entrez
54332
canonical
uniprot
Q8TB36
canonical
ensembl
ENSG00000104381
resolver
ensp
ENSP00000220822
resolver
ensp
ENSP00000501568
resolver
ensp
ENSP00000501785
resolver
ensp
ENSP00000501864
resolver
ensp
ENSP00000502198
resolver
ensp
ENSP00000502437
resolver
ensp
ENSP00000502588
resolver
ensp
ENSP00000502637
resolver
ensp
ENSP00000502638
resolver
ensp
ENSP00000502756
resolver
ensp
ENSP00000502828
resolver
ensp
ENSP00000502838
resolver
enst
ENST00000674612
resolver
enst
ENST00000674806
resolver
enst
ENST00000675220
resolver
enst
ENST00000675376
resolver
enst
ENST00000675821
resolver
enst
ENST00000675928
resolver
enst
ENST00000676143
resolver
enst
ENST00000676207
resolver
enst
ENST00000676377
resolver
genesymbol
GDAP1
resolver
hgnc
HGNC:15968
resolver
uniprot
A0A6Q8PEZ4
resolver
uniprot
A0A6Q8PFN3
resolver
uniprot
A0A6Q8PH97
resolver
uniprot
A8K957
resolver
uniprot
B4DIH2
resolver
uniprot
E7FJF3
resolver
uniprot
E7FJF4
resolver
uniprot_entry
A0A6Q8PEZ4_HUMAN
resolver
uniprot_entry
A0A6Q8PFN3_HUMAN
resolver
uniprot_entry
A0A6Q8PH97_HUMAN
resolver
uniprot_entry
B4DIH2_HUMAN
resolver
uniprot_entry
GDAP1_HUMAN
resolver
uniprot_sec
A8K957
resolver
uniprot_sec
E7FJF3
resolver
uniprot_sec
E7FJF4
resolver
amino_acid_sequence
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 4A (CMT4A) [MIM:214400]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence. {ECO:0000269|PubMed:11743579, ECO:0000269|PubMed:12601710, ECO:0000269|PubMed:15772096, ECO:0000269|PubMed:16172208}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]: A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. {ECO:0000269|PubMed:12868504, ECO:0000269|PubMed:16172208}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2K (CMT2K) [MIM:607831]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:15772096, ECO:0000269|PubMed:20685671, ECO:0000269|PubMed:22206013, ECO:0000269|PubMed:26525999, ECO:0000269|PubMed:28244113}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, recessive intermediate A (CMTRIA) [MIM:608340]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:12499475, ECO:0000269|PubMed:12566285, ECO:0000269|PubMed:15772096, ECO:0000269|PubMed:16172208}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates the mitochondrial network by promoting mitochondrial fission. {ECO:0000269|PubMed:16172208}.
uniprot
proteins
mass_dalton
41346
uniprot
proteins
mutagenesis
MUTAGEN 116; /note="M->H: Impairment in the ability to induce mitochondrial fragmentation."; /evidence="ECO:0000269|PubMed:16172208"; MUTAGEN 157; /note="T->P: No effect on mitochondrial localization."; /evidence="ECO:0000269|PubMed:15772096
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. {ECO:0000269|PubMed:25621951}.
uniprot
proteins
protein_family
GST superfamily
uniprot
proteins
pubmed
10217254
uniprot
proteins
pubmed
11743579
uniprot
proteins
pubmed
11743580
uniprot
proteins
pubmed
12499475
uniprot
proteins
pubmed
12566285
uniprot
proteins
pubmed
12601710
uniprot
proteins
pubmed
12868504
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772096
uniprot
proteins
pubmed
16172208
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16857173
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20685671
uniprot
proteins
pubmed
22206013
uniprot
proteins
pubmed
24627108
uniprot
proteins
pubmed
25621951
uniprot
proteins
pubmed
26525999
uniprot
proteins
pubmed
28244113
uniprot
proteins
sequence_length
358
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:15772096, ECO:0000269|PubMed:16172208, ECO:0000269|PubMed:16857173}; Multi-pass membrane protein {ECO:0000269|PubMed:16172208}. Cytoplasm {ECO:0000250|UniProtKB:O88741}.
uniprot
proteins
transmembrane_region
TRANSMEM 292..312; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 320..340; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins