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    Sacm1l SAC1 suppressor of actin mutations 1-like (yeast) [ Mus musculus (house mouse) ]

    Gene ID: 83493, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Sacm1lprovided by MGI
    Official Full Name
    SAC1 suppressor of actin mutations 1-like (yeast)provided by MGI
    Primary source
    MGI:MGI:1933169
    See related
    Ensembl:ENSMUSG00000025240 AllianceGenome:MGI:1933169
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    SAC1; Sac1p; mKIAA0851
    Summary
    This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Two isoforms are predicted to be produced from the same mRNA by the use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Dec 2017]
    Expression
    Ubiquitous expression in placenta adult (RPKM 16.2), cerebellum adult (RPKM 14.9) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 F4; 9 74.08 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (123358818..123421665)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (123529753..123592600)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene LIM domains containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E5115 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:123428421-123428574 Neighboring gene STARR-positive B cell enhancer ABC_E717 Neighboring gene nuclear encoded tRNA arginine 2 (anticodon ACG) Neighboring gene solute carrier family 6 (neurotransmitter transporter), member 20B Neighboring gene solute carrier family 6 (neurotransmitter transporter), member 20A

    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. Lipid phosphatase SAC1 suppresses hepatitis B virus replication through promoting autophagic degradation of virions. Zheng J, et al. Antiviral Res, 2023 May. PMID 37068596
    2. A novel probe for phosphatidylinositol 4-phosphate reveals multiple pools beyond the Golgi. Hammond GR, et al. J Cell Biol, 2014 Apr 14. PMID 24711504, Free PMC Article
    3. Sac1 Phosphoinositide Phosphatase Regulates Foam Cell Formation by Modulating SR-A Expression in Macrophages. Nigorikawa K, et al. Biol Pharm Bull, 2019. PMID 31155588
    4. Integration of Golgi trafficking and growth factor signaling by the lipid phosphatase SAC1. Blagoveshchenskaya A, et al. J Cell Biol, 2008 Feb 25. PMID 18299350, Free PMC Article
    5. Sensing of nutrients by CPT1C controls SAC1 activity to regulate AMPA receptor trafficking. Casas M, et al. J Cell Biol, 2020 Oct 5. PMID 32931550, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lipid phosphatase SAC1 suppresses hepatitis B virus replication through promoting autophagic degradation of virions.
      Title: Lipid phosphatase SAC1 suppresses hepatitis B virus replication through promoting autophagic degradation of virions.
    2. Sensing of nutrients by CPT1C controls SAC1 activity to regulate AMPA receptor trafficking.
      Title: Sensing of nutrients by CPT1C controls SAC1 activity to regulate AMPA receptor trafficking.
    3. Glycosylation of SR-A was largely attenuated by Sac1 knockdown, but neither mRNA expression nor protein degradation of SR-A were affected. These results suggest that Sac1 maintains SR-A protein levels by modulating SR-A glycosylation.
      Title: Sac1 Phosphoinositide Phosphatase Regulates Foam Cell Formation by Modulating SR-A Expression in Macrophages.
    4. Sac1 executes an essential household function in mammals that involves organization of both Golgi membranes and mitotic spindles
      Title: The Sac1 phosphoinositide phosphatase regulates Golgi membrane morphology and mitotic spindle organization in mammals.
    5. These results suggest direct roles for p38 MAPK and SAC1 in transmitting growth signals to the secretory machinery.
      Title: Integration of Golgi trafficking and growth factor signaling by the lipid phosphatase SAC1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (2) 
    • Endonuclease-mediated (3) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-4-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-4-phosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in exocytic insertion of neurotransmitter receptor to postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in exocytic insertion of neurotransmitter receptor to postsynaptic membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neurotransmitter receptor transport to postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated transport in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle-mediated transport in synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport in synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum-plasma membrane contact site ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol-3-phosphatase SAC1
    Names
    phosphatidylinositide phosphatase SAC1
    phosphatidylinositol-4-phosphate phosphatase
    polyphosphatidylinositol phosphatase
    suppressor of actin mutations 1-like protein
    NP_001344414.1
    NP_109617.1
    XP_017169192.1

    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_001357485.1 → NP_001344414.1  phosphatidylinositol-3-phosphatase SAC1 isoform 1x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      AK161111, BY127420, CJ173186, CN539161, CO044347
      Consensus CDS
      CCDS90692.1
      UniProtKB/TrEMBL
      A0A5F8MPK9
      Related
      ENSMUSP00000159019.2, ENSMUST00000239083.2
      Conserved Domains (1) summary
      COG5329
      Location:57 → 513
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]

    2. NM_030692.5 → NP_109617.1  phosphatidylinositol-3-phosphatase SAC1 isoform 1

      See identical proteins and their annotated locations for NP_109617.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (1).
      Source sequence(s)
      AK161111, BY127420, CJ173186, CN539161, CO044347
      Consensus CDS
      CCDS40816.1
      UniProtKB/Swiss-Prot
      Q80TQ1, Q99K33, Q9EP69
      Related
      ENSMUSP00000026270.8, ENSMUST00000026270.9
      Conserved Domains (2) summary
      COG5329
      Location:57 → 513
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
      pfam02383
      Location:58 → 345
      Syja_N; SacI homology domain

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      123358818..123421665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313703.1 → XP_017169192.1  phosphatidylinositol-3-phosphatase SAC1 isoform X1

      Conserved Domains (1) summary
      COG5329
      Location:61 → 452
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9EP69.1 GenPept UniProtKB/Swiss-Prot:Q9EP69

    Gene LinkOut

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