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

Gene ID: 83493, updated on 8-Jan-2023

Summary

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
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Genomic context

See Sacm1l in Genome Data Viewer
Location:
9 F4; 9 74.08 cM
Exon count:
20
Annotation release Status Assembly Chr Location
109 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 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
PubMed 
enables phosphatidylinositol-4-phosphate phosphatase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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

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_001357485.1NP_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:57513
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
  2. NM_030692.5NP_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
    Q99K33, Q9EP69
    Related
    ENSMUSP00000026270.8, ENSMUST00000026270.9
    Conserved Domains (2) summary
    COG5329
    Location:57513
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam02383
    Location:58345
    Syja_N; SacI homology domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_017313703.1XP_017169192.1  phosphatidylinositol-3-phosphatase SAC1 isoform X1

    Conserved Domains (1) summary
    COG5329
    Location:61452
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]