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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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