Gene Gene information from NCBI Gene database.
Entrez ID 22906
Gene name Trafficking kinesin protein 1
Gene symbol TRAK1
Synonyms (NCBI Gene)
DEE68EIEE68MILT1OIP106
Chromosome 3
Chromosome location 3p22.1
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1553608726 AG>- Likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1559390743 ->C Pathogenic-likely-pathogenic Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1559877920 A>C,G Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
409
miRTarBase ID miRNA Experiments Reference
MIRT020781 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT048852 hsa-miR-93-5p CLASH 23622248
MIRT042880 hsa-miR-324-3p CLASH 23622248
MIRT614702 hsa-miR-16-5p HITS-CLIP 23824327
MIRT614701 hsa-miR-195-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15644324, 16630562, 18675823, 19135897, 19528298, 24161670, 24995978, 27705803, 33961781
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
GO:0005737 Component Cytoplasm IDA 19528298
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608112 29947 ENSG00000182606
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPV9
Protein name Trafficking kinesin-binding protein 1 (106 kDa O-GlcNAc transferase-interacting protein) (Protein Milton)
Protein 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 motili
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04849 HAP1_N 48 353 HAP1 N-terminal conserved region Family
PF12448 Milton 414 583 Kinesin associated protein Family
Tissue specificity TISSUE SPECIFICITY: High expression in spinal cord and moderate expression in all other tissues and specific brain regions examined. Expressed in all cell lines examined. {ECO:0000269|PubMed:18986759}.
Sequence
MALVFQFGQPVRAQPLPGLCHGKLIRTNACDVCNSTDLPEVEIISLLEEQLPHYKLRADT
IYGYDHDDWLHTPLISPDANIDLTTEQIEETLKYFLLCAERVGQMTKTYNDIDAVTRLLE
EKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTS
AAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETIT
YEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKA
CAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNK
TMPNTTS
RRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTP
SPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDER
SKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTP
TESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGS
ATLHHWQQLAQPHLGGI
LDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGK
CMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSL
AESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPS
TPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSN
LNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPT
VTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR
Sequence length 953
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Signaling by BRAF and RAF fusions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
77
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 68 Pathogenic; Likely pathogenic rs1559877920, rs1559390743 RCV000722133
RCV000722134
RCV000722135
Uterine corpus endometrial carcinoma Pathogenic rs2149140090 RCV005922407
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Benign rs112579771, rs56657651 RCV005922604
RCV005908257
Cervical cancer Benign rs56657651 RCV005908260
Cholangiocarcinoma Benign rs56657651 RCV005908266
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs56657651 RCV005908267
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 35205252
Brain Diseases Associate 28364549
Brain Neoplasms Associate 37399073
Colorectal Neoplasms Associate 21999571
Developmental Disabilities Associate 28364549
Epilepsy Absence Associate 19837565
Glioma Associate 37399073
Neoplasms Associate 21999571
Urinary Bladder Neoplasms Associate 28388658