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

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: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sacm1l (e-PCR), detects polymorphism
- UniSTS:226086

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IEA Inferred from Electronic Annotation 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 phosphatidylinositol-4-phosphate phosphatase activity	ISS Inferred from Sequence or Structural Similarity 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
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 phosphatidylinositol dephosphorylation	ISS Inferred from Sequence or Structural Similarity 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 apparatus	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum-plasma membrane contact site	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-plasma membrane contact site	ISS Inferred from Sequence or Structural Similarity 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

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

EC 3.1.3.64

NP_109617.1

EC 3.1.3.64

XP_017169192.1

EC 3.1.3.64

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)

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]
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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

123358818..123421665

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]