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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
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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)

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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_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