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

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

Summary

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Official Symbol
Sacm1lprovided by RGD
Official Full Name
SAC1 like phosphatidylinositide phosphataseprovided by RGD
Primary source
RGD:69223
See related
Ensembl: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
human mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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

Bibliography

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Related articles in PubMed

  1. JNK3 couples the neuronal stress response to inhibition of secretory trafficking. Yang G, et al. Sci Signal, 2013 Jul 9. PMID 23838184
  2. SAC1 degrades its lipid substrate PtdIns4P in the endoplasmic reticulum to maintain a steep chemical gradient with donor membranes. Zewe JP, et al. Elife, 2018 Feb 20. PMID 29461204, Free PMC Article
  3. Functional characterization of a mammalian Sac1 and mutants exhibiting substrate-specific defects in phosphoinositide phosphatase activity. Nemoto Y, et al. J Biol Chem, 2000 Nov 3. PMID 10887188
  4. The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1. Venditti R, et al. J Cell Biol, 2019 Mar 4. PMID 30659099, Free PMC Article
  5. Dynamic formation of ER-PM junctions presents a lipid phosphatase to regulate phosphoinositides. Dickson EJ, et al. J Cell Biol, 2016 Apr 11. PMID 27044890, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

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 RGD

Function Evidence Code Pubs
enables phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4-phosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4-phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4-phosphate phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol-4-phosphate phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
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

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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_001357497.1 → NP_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:57 → 513
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]

  2. NM_053798.3 → NP_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
    ENSRNOP00000080652.1, ENSRNOT00000109426.1
    Conserved Domains (1) summary
    pfam02383
    Location:58 → 345
    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_063264777.1 → XP_063120847.1  phosphatidylinositol-3-phosphatase SAC1 isoform X1

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ES21.1 GenPept UniProtKB/Swiss-Prot:Q9ES21

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