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Aliases for SACM1L Gene

Aliases for SACM1L Gene

  • SAC1 Suppressor Of Actin Mutations 1-Like (Yeast) 2 3 5
  • Suppressor Of Actin Mutations 1-Like Protein 3 4
  • Suppressor Of Actin 1 3
  • EC 63
  • EC 63
  • EC 3.1.3.- 4
  • KIAA0851 4
  • EC 3.1.3 63
  • SAC1 3

External Ids for SACM1L Gene

Previous GeneCards Identifiers for SACM1L Gene

  • GC03P044971
  • GC03P045550
  • GC03P045691
  • GC03P045706

Summaries for SACM1L Gene

Entrez Gene Summary for SACM1L Gene

  • This gene encodes an integral membrane protein that is localized to the endoplasmic reticulum and golgi, and functions as a phosphoinositide lipid phosphatase. Studies in mammals suggest that this gene is involved in the organization of golgi membranes and the mitotic spindles. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for SACM1L Gene

SACM1L (SAC1 Suppressor Of Actin Mutations 1-Like (Yeast)) is a Protein Coding gene. Among its related pathways are Metabolism and PI Metabolism. GO annotations related to this gene include phosphatase activity and phosphoric ester hydrolase activity. An important paralog of this gene is INPP5F.

UniProtKB/Swiss-Prot for SACM1L Gene

  • Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P) (PubMed:24209621). Has low activity towards PtdIns(3,5)P2 (By similarity).

Gene Wiki entry for SACM1L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SACM1L Gene

Genomics for SACM1L Gene

Regulatory Elements for SACM1L Gene

Enhancers for SACM1L Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SACM1L on UCSC Golden Path with GeneCards custom track

Promoters for SACM1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SACM1L on UCSC Golden Path with GeneCards custom track

Genomic Location for SACM1L Gene

45,689,056 bp from pter
45,745,424 bp from pter
56,369 bases
Plus strand

Genomic View for SACM1L Gene

Genes around SACM1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SACM1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SACM1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SACM1L Gene

Proteins for SACM1L Gene

  • Protein details for SACM1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphatidylinositide phosphatase SAC1
    Protein Accession:
    Secondary Accessions:
    • A8K527
    • B4DK71
    • O94935
    • Q7LA14
    • Q7LA22
    • Q96AX7
    • Q9NQ46
    • Q9NQ57

    Protein attributes for SACM1L Gene

    587 amino acids
    Molecular mass:
    66967 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA74874.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SACM1L Gene


neXtProt entry for SACM1L Gene

Proteomics data for SACM1L Gene at MOPED

Post-translational modifications for SACM1L Gene

  • Ubiquitination at Lys 250 and Lys 483
  • Modification sites at PhosphoSitePlus

Other Protein References for SACM1L Gene

Domains & Families for SACM1L Gene

Gene Families for SACM1L Gene

Protein Domains for SACM1L Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 1 SAC domain.
  • Contains 1 SAC domain.
genes like me logo Genes that share domains with SACM1L: view

Function for SACM1L Gene

Molecular function for SACM1L Gene

UniProtKB/Swiss-Prot Function:
Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P) (PubMed:24209621). Has low activity towards PtdIns(3,5)P2 (By similarity).

Enzyme Numbers (IUBMB) for SACM1L Gene

Gene Ontology (GO) - Molecular Function for SACM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity IEA,IDA 24209621
genes like me logo Genes that share ontologies with SACM1L: view
genes like me logo Genes that share phenotypes with SACM1L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SACM1L

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SACM1L Gene

Localization for SACM1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SACM1L Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for SACM1L Gene COMPARTMENTS Subcellular localization image for SACM1L gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
cytosol 2
cytoskeleton 1
endosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for SACM1L Gene

Pathways & Interactions for SACM1L Gene

genes like me logo Genes that share pathways with SACM1L: view

Gene Ontology (GO) - Biological Process for SACM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SACM1L: view

No data available for SIGNOR curated interactions for SACM1L Gene

Drugs & Compounds for SACM1L Gene

(3) Drugs for SACM1L Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bupropion Approved Pharma 312
genes like me logo Genes that share compounds with SACM1L: view

Transcripts for SACM1L Gene

Unigene Clusters for SACM1L Gene

SAC1 suppressor of actin mutations 1-like (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SACM1L Gene

No ASD Table

Relevant External Links for SACM1L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SACM1L Gene

mRNA expression in normal human tissues for SACM1L Gene

Protein differential expression in normal tissues from HIPED for SACM1L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.9), Platelet (8.1), and Adrenal (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SACM1L Gene

SOURCE GeneReport for Unigene cluster for SACM1L Gene Hs.156509

mRNA Expression by UniProt/SwissProt for SACM1L Gene

Tissue specificity: Detected in heart, brain, lung, liver, kidney, pancreas and testis.
genes like me logo Genes that share expression patterns with SACM1L: view

Protein tissue co-expression partners for SACM1L Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SACM1L Gene

Orthologs for SACM1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SACM1L Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SACM1L 35
  • 92.28 (n)
  • 94.38 (a)
  • 94 (a)
(Canis familiaris)
Mammalia SACM1L 35
  • 91.65 (n)
  • 94.38 (a)
  • 93 (a)
(Mus musculus)
Mammalia Sacm1l 35
  • 91.14 (n)
  • 95.06 (a)
Sacm1l 16
Sacm1l 36
  • 95 (a)
(Pan troglodytes)
Mammalia SACM1L 35
  • 97.79 (n)
  • 97.78 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia Sacm1l 35
  • 91.43 (n)
  • 95.06 (a)
(Monodelphis domestica)
Mammalia SACM1L 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia SACM1L 36
  • 87 (a)
(Gallus gallus)
Aves SACM1L 35
  • 79.94 (n)
  • 87.07 (a)
  • 85 (a)
(Anolis carolinensis)
Reptilia SACM1L 36
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13854 35
(Danio rerio)
Actinopterygii sacm1lb 35
  • 70.21 (n)
  • 80.14 (a)
sacm1la 36
  • 78 (a)
sacm1lb 36
  • 80 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sac1 37
  • 47 (a)
Sac1 35
  • 51.64 (n)
  • 48.25 (a)
Sac1 36
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000891 35
  • 50.03 (n)
  • 44.73 (a)
(Caenorhabditis elegans)
Secernentea F30A10.6 37
  • 45 (a)
sac-1 35
  • 54.5 (n)
  • 48.15 (a)
sac-1 36
  • 44 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER447C 35
  • 46.35 (n)
  • 38.49 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14388g 35
  • 46.71 (n)
  • 36.71 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC1 35
  • 47.52 (n)
  • 38.04 (a)
SAC1 36
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons RHD4 35
  • 46.9 (n)
  • 36.67 (a)
(Oryza sativa)
Liliopsida Os11g0309000 35
  • 46.53 (n)
  • 35.42 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7050 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00896 35
  • 46.34 (n)
  • 40.07 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC19F5.03 35
  • 48.34 (n)
  • 38.75 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2353 36
  • 49 (a)
Species with no ortholog for SACM1L:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SACM1L Gene

Gene Tree for SACM1L (if available)
Gene Tree for SACM1L (if available)

Paralogs for SACM1L Gene

Paralogs for SACM1L Gene

(1) SIMAP similar genes for SACM1L Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SACM1L: view

Variants for SACM1L Gene

Sequence variations from dbSNP and Humsavar for SACM1L Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1468542 - 45,737,644(-) TTTTG(A/T)AAATC nc-transcript-variant, reference, missense
rs1019129 -- 45,739,288(-) TCCAG(A/G)GCACT intron-variant
rs767280 -- 45,730,109(-) gacta(C/G)actta intron-variant
rs1877931 -- 45,712,087(-) GTTCC(C/T)GAATT intron-variant
rs1877932 -- 45,712,047(-) CATTA(C/T)ATAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SACM1L Gene

Variant ID Type Subtype PubMed ID
esv34130 CNV Loss 18971310
nsv876734 CNV Gain 21882294
esv33645 CNV Loss 17666407
nsv819738 CNV Gain 19587683
nsv876735 CNV Loss 21882294
esv2554417 CNV Deletion 19546169
esv1993720 CNV Deletion 18987734
esv2725224 CNV Deletion 23290073
esv2671340 CNV Deletion 23128226
esv1482139 CNV Deletion 17803354

Variation tolerance for SACM1L Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.49% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SACM1L Gene

Disorders for SACM1L Gene

Relevant External Links for SACM1L

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for SACM1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SACM1L Gene

Publications for SACM1L Gene

  1. The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. (PMID: 11352561) Kiss H. … Dumanski J.P. (Genomics 2001) 2 3 4 23 67
  2. The human phosphatidylinositol phosphatase SAC1 interacts with the coatomer I complex. (PMID: 14527956) Rohde H.M. … Boehmelt G. (J. Biol. Chem. 2003) 3 23
  3. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 2 3
  4. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for SACM1L Gene

Sources for SACM1L Gene