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    Tmem259 transmembrane protein 259 [ Mus musculus (house mouse) ]

    Gene ID: 216157, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tmem259provided by MGI
    Official Full Name
    transmembrane protein 259provided by MGI
    Primary source
    MGI:MGI:2177957
    See related
    Ensembl:ENSMUSG00000013858 AllianceGenome:MGI:2177957
    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
    ORF61; R32184_3; mFLJ00277; AC087114.7gm2
    Summary
    Involved in positive regulation of ERAD pathway and response to endoplasmic reticulum stress. Located in endoplasmic reticulum. Orthologous to human TMEM259 (transmembrane protein 259). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 266.2), duodenum adult (RPKM 252.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem259 in Genome Data Viewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (79812954..79820159, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (79977120..79984325, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 3A Neighboring gene STARR-positive B cell enhancer ABC_E10626 Neighboring gene STARR-seq mESC enhancer starr_27254 Neighboring gene STARR-positive B cell enhancer ABC_E1804 Neighboring gene WD repeat domain 18 Neighboring gene glutamate receptor, ionotropic, NMDA3B Neighboring gene STARR-positive B cell enhancer ABC_E720 Neighboring gene STARR-positive B cell enhancer ABC_E6879 Neighboring gene STARR-positive B cell enhancer ABC_E2947 Neighboring gene predicted gene, 26243 Neighboring gene calponin 2

    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. ER-associated degradation regulates Alzheimer's amyloid pathology and memory function by modulating γ-secretase activity. Zhu B, et al. Nat Commun, 2017 Nov 13. PMID 29133892, Free PMC Article
    2. The critical role of membralin in postnatal motor neuron survival and disease. Yang B, et al. Elife, 2015 May 15. PMID 25977983, Free PMC Article
    3. Characterization and expression of the gene encoding membralin, an evolutionary conserved protein expressed in the central nervous system. Andersson O, et al. Brain Res Gene Expr Patterns, 2002 Oct. PMID 12638133
    4. Membralin deficiency dysregulates astrocytic glutamate homeostasis leading to ALS-like impairment. Jiang LL, et al. J Clin Invest, 2019 May 21. PMID 31112137, Free PMC Article
    5. The APMAP interactome reveals new modulators of APP processing and beta-amyloid production that are altered in Alzheimer's disease. Gerber H, et al. Acta Neuropathol Commun, 2019 Jan 31. PMID 30704515, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. reduced membralin and EAAT2 levels correlated with disease progression in spinal cord from SOD1-mutant mouse models, and reductions in membralin/EAAT2 were observed in human ALS spinal cord. Importantly, overexpression of membralin in SOD1G93A astrocytes decreased TNFR1 levels and increased EAAT2 expression, and improved motor neuron survival.
      Title: Membralin deficiency dysregulates astrocytic glutamate homeostasis leading to ALS-like impairment.
    2. The results identify membralin as an Endoplasmic-reticulum-associated degradation component and demonstrate a critical role for Endoplasmic-reticulum-associated degradation in Alzheimer's disease pathogenesis.
      Title: ER-associated degradation regulates Alzheimer's amyloid pathology and memory function by modulating γ-secretase activity.
    3. Membralin plays a critical role in motor neuron survival, suggesting a novel mechanism for early-onset motor neuron disease.
      Title: The critical role of membralin in postnatal motor neuron survival and disease.
    4. genomic organization and expression (membralin)
      Title: Characterization and expression of the gene encoding membralin, an evolutionary conserved protein expressed in the central nervous system.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00277, MGC90890, AC087114.7gm12

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ERAD pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to endoplasmic reticulum stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    membralin

    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_001003949.4 → NP_001003949.2  membralin isoform 2

      See identical proteins and their annotated locations for NP_001003949.2

      Status: VALIDATED

      Source sequence(s)
      AC151846, BE947335, BQ571954, BQ572278, CO044817, CX205815
      Consensus CDS
      CCDS24002.1
      UniProtKB/Swiss-Prot
      Q68EE1, Q6KAN7, Q7TS84, Q8CIV1, Q8CIV2, Q99K29
      UniProtKB/TrEMBL
      F6RN19
      Related
      ENSMUSP00000056792.8, ENSMUST00000052885.14
      Conserved Domains (1) summary
      pfam09746
      Location:34 → 393
      Membralin; Tumour-associated protein

    2. NM_001359632.1 → NP_001346561.1  membralin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC151846, BE947335, BQ571954, BQ572278, BQ748980, CO044817, CX205815
      UniProtKB/TrEMBL
      F6RN19
      Related
      ENSMUSP00000119572.2, ENSMUST00000124536.2
      Conserved Domains (2) summary
      pfam09746
      Location:35 → 417
      Membralin; tumor-associated protein
      cl28033
      Location:484 → 596
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      79812954..79820159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513491.1 → XP_006513554.1  membralin isoform X1

      See identical proteins and their annotated locations for XP_006513554.1

      UniProtKB/TrEMBL
      F6RN19
      Conserved Domains (2) summary
      PHA03307
      Location:443 → 555
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam09746
      Location:34 → 376
      Membralin; tumor-associated protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CIV2.2 GenPept UniProtKB/Swiss-Prot:Q8CIV2

    Gene LinkOut

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

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