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

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: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_086026.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D8Rat116 (e-PCR), detects polymorphism
- UniSTS:228216

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

Go to the top of the page Help

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

EC 3.1.3.64

NP_446250.1

EC 3.1.3.64

XP_063120847.1

EC 3.1.3.64

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_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]
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

ENSRNOP00000105071.1, ENSRNOT00000160277.1

Conserved Domains (1) summary

pfam02383
Location:58 → 345

Syja_N; SacI homology domain