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    Lyst lysosomal trafficking regulator [ Mus musculus (house mouse) ]

    Gene ID: 17101, updated on 27-Nov-2024

    Summary

    Official Symbol
    Lystprovided by MGI
    Official Full Name
    lysosomal trafficking regulatorprovided by MGI
    Primary source
    MGI:MGI:107448
    See related
    Ensembl:ENSMUSG00000019726 AllianceGenome:MGI:107448
    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
    bg; beige; D13Sfk13
    Summary
    Predicted to enable protein kinase binding activity. Acts upstream of or within several processes, including defense response to other organism; phospholipid homeostasis; and vesicle organization. Located in cytosol. Is expressed in axial skeleton. Used to study Chediak-Higashi syndrome; exfoliation syndrome; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Chediak-Higashi syndrome. Orthologous to human LYST (lysosomal trafficking regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 5.4), spleen adult (RPKM 3.5) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Lyst in Genome Data Viewer
    Location:
    13 A1; 13 5.28 cM
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (13764896..13953388)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (13590311..13778803)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene embryonic H3 histone Neighboring gene nidogen 1 Neighboring gene STARR-positive B cell enhancer ABC_E11531 Neighboring gene STARR-seq mESC enhancer starr_33691 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:13656913-13657141 Neighboring gene STARR-positive B cell enhancer ABC_E1868 Neighboring gene predicted gene, 30836 Neighboring gene STARR-seq mESC enhancer starr_33693 Neighboring gene STARR-seq mESC enhancer starr_33694 Neighboring gene guanine nucleotide binding protein (G protein), gamma 4 Neighboring gene STARR-seq mESC enhancer starr_33698 Neighboring gene STARR-seq mESC enhancer starr_33699 Neighboring gene predicted gene 7441

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (14)  1 citation
    • Endonuclease-mediated (2) 
    • Radiation induced (1) 
    • Spontaneous (10)  1 citation
    • Targeted (3) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within T cell mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to protozoan IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome to lysosome transport via multivesicular body sorting pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within granulocyte chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mast cell secretory granule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within microtubule-based process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in natural killer cell mediated cytotoxicity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neutrophil mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within phospholipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within phospholipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pigment granule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pigmentation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of natural killer cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within secretion of lysosomal enzymes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    lysosomal-trafficking regulator
    Names
    CHS1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_010748.2NP_034878.2  lysosomal-trafficking regulator

      See identical proteins and their annotated locations for NP_034878.2

      Status: VALIDATED

      Source sequence(s)
      CT010431, U70015
      Consensus CDS
      CCDS36597.1
      UniProtKB/Swiss-Prot
      P97412, Q62403, Q8VBS6
      UniProtKB/TrEMBL
      G5E8Q0
      Related
      ENSMUSP00000106188.2, ENSMUST00000110559.3
      Conserved Domains (5) summary
      smart01026
      Location:31183408
      Beach; Beige/BEACH domain
      COG2319
      Location:35263764
      WD40; WD40 repeat [General function prediction only]
      pfam14844
      Location:30063101
      PH_BEACH; PH domain associated with Beige/BEACH
      sd00039
      Location:35553600
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:34633764
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      13764896..13953388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516561.2XP_006516624.1  lysosomal-trafficking regulator isoform X1

      UniProtKB/Swiss-Prot
      P97412, Q62403, Q8VBS6
      Conserved Domains (4) summary
      smart01026
      Location:31703460
      Beach; Beige/BEACH domain
      sd00039
      Location:36073652
      7WD40; WD40 repeat [structural motif]
      pfam14844
      Location:30583153
      PH_BEACH; PH domain associated with Beige/BEACH
      cl29593
      Location:35153816
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. XM_006516562.2XP_006516625.1  lysosomal-trafficking regulator isoform X2

      UniProtKB/Swiss-Prot
      P97412, Q62403, Q8VBS6
      Conserved Domains (4) summary
      smart01026
      Location:31693459
      Beach; Beige/BEACH domain
      sd00039
      Location:36063651
      7WD40; WD40 repeat [structural motif]
      pfam14844
      Location:30573152
      PH_BEACH; PH domain associated with Beige/BEACH
      cl29593
      Location:35143815
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. XM_006516563.4XP_006516626.1  lysosomal-trafficking regulator isoform X3

    RNA

    1. XR_004937943.1 RNA Sequence