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    Sacm1l SAC1 like phosphatidylinositide phosphatase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 116482, updated on 2-Nov-2024

    Summary

    Official Symbol
    Sacm1lprovided by RGD
    Official Full Name
    SAC1 like phosphatidylinositide phosphataseprovided by RGD
    Primary source
    RGD:69223
    See related
    EnsemblRapid:ENSRNOG00000005149 AllianceGenome:RGD:69223
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Sac1
    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
    Biased expression in Kidney (RPKM 465.7), Liver (RPKM 330.0) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Sacm1l in Genome Data Viewer
    Location:
    8q32
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (132053465..132109857)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (123176017..123232413)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (132607166..132663502)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene LIM domain containing 1 Neighboring gene uncharacterized LOC134480118 Neighboring gene transfer RNA arginine (anticodon ACG) 2 Neighboring gene solute carrier family 6 member 20b Neighboring gene solute carrier family 6 member 20a Neighboring gene leucine zipper transcription factor-like 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in exocytic insertion of neurotransmitter receptor to postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neurotransmitter receptor transport to postsynaptic membrane EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in neurotransmitter receptor transport to postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter receptor transport to postsynaptic membrane IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in neurotransmitter receptor transport to postsynaptic membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phosphatidylinositol dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidylinositol dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in vesicle-mediated transport in synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in vesicle-mediated transport in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vesicle-mediated transport in synapse IEP
    Inferred from Expression Pattern
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum-plasma membrane contact site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum-plasma membrane contact site IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum-plasma membrane contact site ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in glutamatergic synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    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

    Preferred Names
    phosphatidylinositol-3-phosphatase SAC1
    Names
    SAC1 suppressor of actin mutations 1-like
    phosphatidylinositide phosphatase SAC1
    phosphatidylinositol-4-phosphate phosphatase
    suppressor of actin mutations 1-like protein
    NP_001344426.1
    NP_446250.1
    XP_063120847.1

    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_001357497.1NP_001344426.1  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)
      FM060902, FM095674, FM108005, FM108115, FM134775, JAXUCZ010000008
      UniProtKB/TrEMBL
      A0A8L2Q2L9
      Conserved Domains (1) summary
      COG5329
      Location:57513
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    2. NM_053798.3NP_446250.1  phosphatidylinositol-3-phosphatase SAC1 isoform 1

      See identical proteins and their annotated locations for NP_446250.1

      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)
      FM060902, FM095674, FM108005, FM108115, FM134775, JAXUCZ010000008
      UniProtKB/Swiss-Prot
      Q9ES21
      UniProtKB/TrEMBL
      A0A8L2Q2L9, A6I4B9
      Related
      ENSRNOP00000105071.1, ENSRNOT00000160277.1
      Conserved Domains (1) summary
      pfam02383
      Location:58345
      Syja_N; SacI homology domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      132053465..132109857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063264777.1XP_063120847.1  phosphatidylinositol-3-phosphatase SAC1 isoform X1