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SACM1L SAC1 like phosphatidylinositide phosphatase [ Homo sapiens (human) ]

Gene ID: 22908, updated on 9-Feb-2020

Summary

Official Symbol
SACM1Lprovided by HGNC
Official Full Name
SAC1 like phosphatidylinositide phosphataseprovided by HGNC
Primary source
HGNC:HGNC:17059
See related
Ensembl:ENSG00000211456 MIM:606569
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]
Expression
Ubiquitous expression in thyroid (RPKM 28.5), lung (RPKM 17.8) and 25 other tissues See more
Orthologs

Genomic context

See SACM1L in Genome Data Viewer
Location:
3p21.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (45689362..45745409)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45730754..45786901)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene LIM domains containing 1 Neighboring gene LIMD1 antisense RNA 1 Neighboring gene tRNA-Arg (anticodon ACG) 2-1 Neighboring gene RNA, 7SL, cytoplasmic 145, pseudogene Neighboring gene solute carrier family 6 member 20 Neighboring gene uncharacterized LOC107986082 Neighboring gene uncharacterized LOC107986083 Neighboring gene leucine zipper transcription factor like 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0851, DKFZp686A0231

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol phosphate 4-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-4-phosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-4-phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphatidylinositide phosphatase SAC1
Names
SAC1 suppressor of actin mutations 1 like
suppressor of actin 1
suppressor of actin mutations 1-like protein
NP_001306000.1
NP_001306001.1
NP_001306002.1
NP_054735.3
XP_011531802.1

NCBI Reference Sequences (RefSeq)

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_001319071.2NP_001306000.1  phosphatidylinositide 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)
    AB020658, CA335989, DC322649
    Related
    ENSP00000500542.2, ENST00000672858.2
    Conserved Domains (1) summary
    COG5329
    Location:57513
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
  2. NM_001319072.2NP_001306001.1  phosphatidylinositide phosphatase SAC1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' region, which results in translation initiation from an alternate downstream start codon compared to variant 1. The encoded isoform (2) is shorter, with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB020658, AK296421, CA335989, DC322649
    UniProtKB/Swiss-Prot
    Q9NTJ5
    Conserved Domains (2) summary
    COG5329
    Location:61452
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam02383
    Location:50284
    Syja_N; SacI homology domain
  3. NM_001319073.2NP_001306002.1  phosphatidylinositide phosphatase SAC1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional exon in the 5' region, which results in translation initiation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AB020658, AK301248, CA335989, DC322649
    Consensus CDS
    CCDS82762.1
    UniProtKB/Swiss-Prot
    Q9NTJ5
    UniProtKB/TrEMBL
    B4DVV3, E9PGZ4
    Related
    ENSP00000396387.1, ENST00000418611.5
    Conserved Domains (1) summary
    cl27434
    Location:19410
    Syja_N; SacI homology domain
  4. NM_014016.5NP_054735.3  phosphatidylinositide phosphatase SAC1 isoform 1

    See identical proteins and their annotated locations for NP_054735.3

    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)
    AB020658, CA335989, DC322649
    Consensus CDS
    CCDS33745.1
    UniProtKB/Swiss-Prot
    Q9NTJ5
    Related
    ENSP00000373713.4, ENST00000389061.10
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    45689362..45745409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533500.2XP_011531802.1  phosphatidylinositide phosphatase SAC1 isoform X1

    See identical proteins and their annotated locations for XP_011531802.1

    UniProtKB/Swiss-Prot
    Q9NTJ5
    Conserved Domains (2) summary
    COG5329
    Location:61452
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam02383
    Location:50284
    Syja_N; SacI homology domain

RNA

  1. XR_940392.3 RNA Sequence

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