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    Trak1 trafficking protein, kinesin binding 1 [ Mus musculus (house mouse) ]

    Gene ID: 67095, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Trak1provided by MGI
    Official Full Name
    trafficking protein, kinesin binding 1provided by MGI
    Primary source
    MGI:MGI:1914345
    See related
    Ensembl:ENSMUSG00000032536 AllianceGenome:MGI:1914345
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    hyrt; mKIAA1042; 2310001H13Rik
    Summary
    Enables GABA receptor binding activity. Involved in anterograde axonal transport of mitochondrion. Predicted to be located in axonal growth cone; early endosome; and perinuclear region of cytoplasm. Predicted to be active in cytoplasmic vesicle; dendrite; and mitochondrion. Is expressed in several structures, including central nervous system; dorsal root ganglion; liver; spleen; and submandibular gland primordium. Used to study Stiff-Person syndrome. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 68. Orthologous to human TRAK1 (trafficking kinesin protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon adult (RPKM 26.4), heart adult (RPKM 14.9) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 F4; 9 72.41 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (121126568..121303985)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (121297502..121474919)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene unc-51-like kinase 4 Neighboring gene STARR-positive B cell enhancer ABC_E3868 Neighboring gene predicted gene, 34735 Neighboring gene VISTA enhancer mm1661 Neighboring gene predicted gene, 34655 Neighboring gene STARR-seq mESC enhancer starr_25526 Neighboring gene STARR-seq mESC enhancer starr_25527 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:121280653-121280762 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:121388759-121388868 Neighboring gene predicted gene, 51661 Neighboring gene predicted gene, 38661 Neighboring gene predicted gene, 47095 Neighboring gene cholecystokinin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking. Webber E, et al. J Mol Biol, 2008 Oct 10. PMID 18675823, Free PMC Article
    2. TRAK/Milton motor-adaptor proteins steer mitochondrial trafficking to axons and dendrites. van Spronsen M, et al. Neuron, 2013 Feb 6. PMID 23395375
    3. Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. Gilbert SL, et al. Nat Genet, 2006 Feb. PMID 16380713
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    5. Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. Taniwaki T, et al. Dev Growth Differ, 2005 Apr. PMID 15840001

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (1) 
    • Endonuclease-mediated (4) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GABA receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables TPR domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables myosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in anterograde axonal transport of mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in anterograde axonal transport of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in axonal transport of mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in dendrite morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosome to lysosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosome to lysosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrion distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of axonogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein targeting IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axonal growth cone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    trafficking kinesin-binding protein 1
    Names
    protein Milton

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001357968.1 → NP_001344897.1  trafficking kinesin-binding protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115863, AC131660
      UniProtKB/TrEMBL
      Q80TL6
      Conserved Domains (2) summary
      pfam04849
      Location:45 → 302
      HAP1_N; HAP1 N-terminal conserved region
      pfam12448
      Location:363 → 530
      Milton; Kinesin associated protein

    2. NM_001357969.1 → NP_001344898.1  trafficking kinesin-binding protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115863, AC131660
      UniProtKB/TrEMBL
      Q80TL6
      Conserved Domains (2) summary
      pfam04849
      Location:1 → 249
      HAP1_N; HAP1 N-terminal conserved region
      pfam12448
      Location:310 → 477
      Milton; Kinesin associated protein

    3. NM_001357970.1 → NP_001344899.1  trafficking kinesin-binding protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115863, AC131660
      UniProtKB/TrEMBL
      Q80TL6
      Conserved Domains (2) summary
      pfam04849
      Location:1 → 249
      HAP1_N; HAP1 N-terminal conserved region
      pfam12448
      Location:310 → 477
      Milton; Kinesin associated protein

    4. NM_001357972.1 → NP_001344901.1  trafficking kinesin-binding protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC115863, AK029123, AK041436, BE957084
      Consensus CDS
      CCDS90685.1
      UniProtKB/TrEMBL
      A0A1B0GRP1, A0A1B0GSQ2
      Related
      ENSMUSP00000148026.2, ENSMUST00000211439.2
      Conserved Domains (2) summary
      pfam04849
      Location:1 → 249
      HAP1_N; HAP1 N-terminal conserved region
      pfam12448
      Location:310 → 476
      Milton; Kinesin associated protein

    5. NM_001357973.1 → NP_001344902.1  trafficking kinesin-binding protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC115863
      Consensus CDS
      CCDS90684.1
      UniProtKB/TrEMBL
      Q80VE1
      Related
      ENSMUSP00000148092.2, ENSMUST00000210636.2
      Conserved Domains (1) summary
      pfam04849
      Location:49 → 231
      HAP1_N; HAP1 N-terminal conserved region

    6. NM_175114.4 → NP_780323.2  trafficking kinesin-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_780323.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC115863, AC131660
      Consensus CDS
      CCDS40810.1
      UniProtKB/Swiss-Prot
      Q6PD31, Q8BYA3
      UniProtKB/TrEMBL
      Q80TL6
      Related
      ENSMUSP00000044482.7, ENSMUST00000045903.8
      Conserved Domains (4) summary
      pfam04849
      Location:49 → 352
      HAP1_N; HAP1 N-terminal conserved region
      pfam12448
      Location:421 → 580
      Milton; Kinesin associated protein
      cl12013
      Location:132 → 345
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl21478
      Location:263 → 355
      ATP-synt_B; ATP synthase B/B' CF(0)

    RNA

    1. NR_152160.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC115863, AC131660, AK029123, AK041436
      Related
      ENSMUST00000210798.3

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      121126568..121303985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PD31.1 GenPept UniProtKB/Swiss-Prot:Q6PD31

    Gene LinkOut

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