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

    Gene ID: 22908, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:17059
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SACM1L in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (45689396..45745409)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (45705375..45761083)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45730888..45786901)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene LIM domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14286 Neighboring gene LIMD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19785 Neighboring gene tRNA-Arg (anticodon ACG) 2-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:45769094-45769290 Neighboring gene RNA, 7SL, cytoplasmic 145, pseudogene Neighboring gene solute carrier family 6 member 20 Neighboring gene uncharacterized LOC107986082 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:45859284-45860483 Neighboring gene leucine zipper transcription factor like 1 Neighboring gene uncharacterized LOC124909374

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0851, DKFZp686A0231

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum-plasma membrane contact site IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol-3-phosphatase SAC1
    Names
    SAC1 suppressor of actin mutations 1 like
    phosphatidylinositide phosphatase SAC1
    phosphatidylinositol-4-phosphate phosphatase
    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
    XP_054201694.1
    XP_054201695.1

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_001319071.2NP_001306000.1  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)
      AB020658, CA335989, DC322649
      Consensus CDS
      CCDS93257.1
      UniProtKB/TrEMBL
      A0A5F9ZHN7, A0A9L9PXW9
      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  phosphatidylinositol-3-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/TrEMBL
      B4DVV3
      Conserved Domains (1) summary
      COG5329
      Location:61452
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    3. NM_001319073.2NP_001306002.1  phosphatidylinositol-3-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/TrEMBL
      B4DVV3, E9PGZ4
      Related
      ENSP00000396387.1, ENST00000418611.5
      Conserved Domains (1) summary
      COG5329
      Location:19410
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    4. NM_014016.5NP_054735.3  phosphatidylinositol-3-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
      A8K527, B4DK71, O94935, Q7LA14, Q7LA22, Q96AX7, Q9NQ46, Q9NQ57, Q9NTJ5
      UniProtKB/TrEMBL
      A0A9L9PXW9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      45689396..45745409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533500.3XP_011531802.1  phosphatidylinositol-3-phosphatase SAC1 isoform X1

      See identical proteins and their annotated locations for XP_011531802.1

      UniProtKB/TrEMBL
      B4DVV3
      Related
      ENSP00000411966.2, ENST00000438671.4
      Conserved Domains (1) summary
      COG5329
      Location:61452
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]

    RNA

    1. XR_007095650.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      45705375..45761083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345719.1XP_054201694.1  phosphatidylinositol-3-phosphatase SAC1 isoform X1

      UniProtKB/TrEMBL
      B4DVV3
    2. XM_054345720.1XP_054201695.1  phosphatidylinositol-3-phosphatase SAC1 isoform X2

      UniProtKB/TrEMBL
      A0A9L9PXJ6, A0A9L9PXW5