TRAK1
entrez
22906
canonical
uniprot
Q9UPV9
canonical
ensembl
ENSG00000182606
resolver
ensp
ENSP00000328998
resolver
ensp
ENSP00000340702
resolver
ensp
ENSP00000379478
resolver
ensp
ENSP00000410717
resolver
ensp
ENSP00000483516
resolver
ensp
ENSP00000486713
resolver
ensp
ENSP00000500099
resolver
enst
ENST00000396175
resolver
enst
ENST00000487159
resolver
enst
ENST00000613405
resolver
genesymbol
TRAK1
resolver
genesymbol_syn
KIAA1042
resolver
genesymbol_syn
OIP106
resolver
hgnc
HGNC:29947
resolver
uniprot
A0A087X0N0
resolver
uniprot
A0A0D9SFL5
resolver
uniprot
B7Z218
resolver
uniprot
B7ZAE5
resolver
uniprot
C9JC32
resolver
uniprot
E9PDS2
resolver
uniprot
J3KNT7
resolver
uniprot
Q63HR0
resolver
uniprot
Q659B5
resolver
uniprot
Q96B69
resolver
uniprot_entry
A0A087X0N0_HUMAN
resolver
uniprot_entry
A0A0D9SFL5_HUMAN
resolver
uniprot_entry
B7Z218_HUMAN
resolver
uniprot_entry
B7ZAE5_HUMAN
resolver
uniprot_entry
C9JC32_HUMAN
resolver
uniprot_entry
TRAK1_HUMAN
resolver
uniprot_sec
E9PDS2
resolver
uniprot_sec
J3KNT7
resolver
uniprot_sec
Q63HR0
resolver
uniprot_sec
Q659B5
resolver
uniprot_sec
Q96B69
resolver
amino_acid_sequence
MALVFQFGQPVRAQPLPGLCHGKLIRTNACDVCNSTDLPEVEIISLLEEQLPHYKLRADTIYGYDHDDWLHTPLISPDANIDLTTEQIEETLKYFLLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSLAESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPSTPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSNLNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPTVTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 68 (DEE68) [MIM:618201]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE68 is an autosomal recessive form characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. {ECO:0000269|PubMed:28364549, ECO:0000269|PubMed:28940097, ECO:0000269|PubMed:29846532}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors (PubMed:18675823). Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility. Crucial for recruiting OGT to the mitochondrial surface of neuronal processes (PubMed:24995978). TRAK1 and RHOT form an essential protein complex that links KIF5 to mitochondria for light chain-independent, anterograde transport of mitochondria (By similarity). {ECO:0000250|UniProtKB:Q960V3, ECO:0000269|PubMed:18675823, ECO:0000269|PubMed:24995978}.
uniprot
proteins
mass_dalton
106040
uniprot
proteins
mutagenesis
MUTAGEN 447; /note="S->A: Reduced O-glycosylation of this protein."; /evidence="ECO:0000269|PubMed:24995978"; MUTAGEN 658..672; /note="Missing: Loss of interaction with OGT, but interacts with KIF5B and RHOT1/2 and is able to localize to mitochondria. Increased O-glycosylation of this protein by OGT."; /evidence="ECO:0000269|PubMed:24995978"; MUTAGEN 829; /note="S->A: Reduced O-glycosylation of this protein; when associated with A-830."; /evidence="ECO:0000269|PubMed:24995978"; MUTAGEN 830; /note="S->A: Reduced O-glycosylation of this protein; when associated with A-829."; /evidence="ECO:0000269|PubMed:24995978"; MUTAGEN 938; /note="S->A: Reduced O-glycosylation of this protein."; /evidence="ECO:0000269|PubMed:24995978
uniprot
proteins
post_translational_modification
PTM: O-glycosylated (PubMed:12435728, PubMed:24995978). Glycosylated by OGT; glycosylation in response to increased extracellular glucose levels is required for and leads to regulation of mitochondrial motility by OGT (PubMed:24995978). {ECO:0000269|PubMed:12435728, ECO:0000269|PubMed:24995978}.
uniprot
proteins
protein_family
Milton family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
12435728
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15644324
uniprot
proteins
pubmed
16630562
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18675823
uniprot
proteins
pubmed
18986759
uniprot
proteins
pubmed
19528298
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24995978
uniprot
proteins
pubmed
28364549
uniprot
proteins
pubmed
28940097
uniprot
proteins
pubmed
29288388
uniprot
proteins
pubmed
29846532
uniprot
proteins
sequence_length
953
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18986759}. Nucleus {ECO:0000269|PubMed:12435728}. Mitochondrion {ECO:0000269|PubMed:15644324, ECO:0000269|PubMed:16630562, ECO:0000269|PubMed:18675823, ECO:0000269|PubMed:19528298}. Early endosome {ECO:0000269|PubMed:18675823}. Endosome {ECO:0000269|PubMed:18675823}. Mitochondrion membrane {ECO:0000269|PubMed:24995978}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q6PD31}. Note=Predominantly associated with early endosome. The localization to early endosomes depends on its interaction with HGS/HRS (PubMed:18675823). Colocalizes with MGARP at the mitochondria (PubMed:19528298). {ECO:0000269|PubMed:18675823, ECO:0000269|PubMed:19528298}.
uniprot
proteins