SACM1L SAC1 like phosphatidylinositide phosphatase [Gallus gallus (chicken)] - Gene

Summary

Official Symbol: SACM1Lprovided by CGNC
Official Full Name: SAC1 like phosphatidylinositide phosphataseprovided by CGNC
Primary source: CGNC:8979
See related: Ensembl:ENSGALG00010017531
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Gallus gallus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
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]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
106	current	bGalGal1.mat.broiler.GRCg7b (GCF_016699485.2)	2	NC_052533.1 (42741184..42766235, complement)
106	current	bGalGal1.pat.whiteleghornlayer.GRCg7w (GCF_016700215.2)	2	NC_052574.1 (42792953..42817577, complement)

Chromosome 2 - NC_052533.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables phosphatidylinositol-4-phosphate phosphatase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in phosphatidylinositol dephosphorylation	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol-3-phosphatase SAC1

Names: SAC1 suppressor of actin mutations 1-like

NP_001344436.1

EC 3.1.3.64

NP_001344437.1

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_001357507.2 → NP_001344436.1 phosphatidylinositol-3-phosphatase SAC1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) 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)

JAENSK010000037

UniProtKB/TrEMBL

A0A8V0Z1D4

Related

ENSGALP00010024869.1, ENSGALT00010042379.1

Conserved Domains (1) summary

COG5329
Location:63 → 525

COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
NM_001357508.2 → NP_001344437.1 phosphatidylinositol-3-phosphatase SAC1 isoform 1x

Status: REVIEWED

Description

Transcript Variant: This variant (1) 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)

JAENSK010000037

UniProtKB/TrEMBL

A0A8V0Z1D4

Conserved Domains (1) summary

COG5329
Location:63 → 525

COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Gallus gallus Annotation Release 106 details...

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

Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

Genomic

NC_052533.1 Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

Range

42741184..42766235 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Genomic

NC_052574.1 Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Range

42792953..42817577 complement

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GenBank, FASTA, Sequence Viewer (Graphics)