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    Lyset lysosomal enzyme trafficking factor [ Mus musculus (house mouse) ]

    Gene ID: 320351, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Lysetprovided by MGI
    Official Full Name
    lysosomal enzyme trafficking factorprovided by MGI
    Primary source
    MGI:MGI:2443862
    See related
    Ensembl:ENSMUSG00000046675 AllianceGenome:MGI:2443862
    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
    Tmem251; D230037D09Rik
    Summary
    Predicted to be located in membrane. Predicted to be integral component of membrane. Orthologous to human TMEM251 (transmembrane protein 251). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 7.2), placenta adult (RPKM 6.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 E; 12 52.15 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (102709978..102714551)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (102743719..102745406)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30296 Neighboring gene STARR-seq mESC enhancer starr_33116 Neighboring gene STARR-positive B cell enhancer ABC_E9862 Neighboring gene STARR-positive B cell enhancer ABC_E9390 Neighboring gene predicted gene 20604 Neighboring gene modulator of apoptosis 1 Neighboring gene STARR-seq mESC enhancer starr_33118 Neighboring gene GON7 subunit of KEOPS complex Neighboring gene ubiquitin protein ligase E3 component n-recognin 7 (putative) Neighboring gene STARR-seq mESC enhancer starr_33119

    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. The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection. Richards CM, et al. Science, 2022 Oct 7. PMID 36074821, Free PMC Article
    2. GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway. Zhang W, et al. Nat Commun, 2022 Sep 12. PMID 36096887, Free PMC Article
    3. The human (PEDB) and mouse (mPEDB) Prostate Expression Databases. Nelson PS, et al. Nucleic Acids Res, 2002 Jan 1. PMID 11752298, Free PMC Article
    4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.
      Title: GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in lysosomal transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi cisterna ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    lysosomal enzyme trafficking factor
    Names
    UPF0694 transmembrane protein C14orf109 homolog
    transmembrane protein 251

    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_001324515.3 → NP_001311444.2  lysosomal enzyme trafficking factor isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132315
      UniProtKB/TrEMBL
      Q3UZD1
      Conserved Domains (1) summary
      pfam15190
      Location:2 → 129
      TMEM251; Transmembrane protein 251

    2. NM_177140.5 → NP_796114.1  lysosomal enzyme trafficking factor isoform 1

      See identical proteins and their annotated locations for NP_796114.1

      Status: VALIDATED

      Source sequence(s)
      AC132315
      Consensus CDS
      CCDS49146.1
      UniProtKB/Swiss-Prot
      Q8BH26
      UniProtKB/TrEMBL
      Q3UZD1
      Related
      ENSMUSP00000054611.7, ENSMUST00000057416.8
      Conserved Domains (1) summary
      pfam15190
      Location:34 → 161
      DUF4583; Domain of unknown function (DUF4583)

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      102709978..102714551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BH26.1 GenPept UniProtKB/Swiss-Prot:Q8BH26

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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