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Aliases for SACM1L Gene

Aliases for SACM1L Gene

  • SAC1 Like Phosphatidylinositide Phosphatase 2 3 5
  • Suppressor Of Actin Mutations 1-Like Protein 3 4
  • SAC1 Suppressor Of Actin Mutations 1 Like (Yeast) 2
  • SAC1 Suppressor Of Actin Mutations 1 Like 3
  • Phosphatidylinositide Phosphatase SAC1 3
  • Suppressor Of Actin 1 3
  • EC 3.1.3.36 56
  • EC 3.1.3.77 56
  • EC 3.1.3.- 4
  • KIAA0851 4
  • EC 3.1.3 56
  • 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, 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]

GeneCards Summary for SACM1L Gene

SACM1L (SAC1 Like Phosphatidylinositide Phosphatase) is a Protein Coding gene. Diseases associated with SACM1L include Yunis-Varon Syndrome and Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (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

Additional gene information for SACM1L Gene

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

Genomics for SACM1L Gene

GeneHancer (GH) Regulatory Elements for SACM1L Gene

Promoters and enhancers for SACM1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I045687 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 578.1 +2.8 2840 8.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SACM1L ZNF502 LIMD1 RN7SL145P RPS24P8 ZNF501 ZDHHC3 LARS2-AS1 SDHDP4 CCR9
GH03I045638 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 26.7 -45.4 -45446 9.6 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 SLC30A9 E2F8 FOS LIMD1 SACM1L LARS2-AS1 LIMD1-AS1 LARS2 CLEC3B GC03M045664 PIR32515
GH03I045653 Enhancer 1.4 Ensembl ENCODE dbSUPER 27.7 -33.6 -33647 4.2 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 GLIS2 SACM1L LIMD1 ZNF502 RN7SL145P LARS2-AS1 LIMD1-AS1 CCR3 GC03M045664 PIR32515
GH03I045664 Enhancer 1.4 Ensembl ENCODE dbSUPER 24.4 -22.3 -22344 5.2 HDGF PKNOX1 ATF1 SMAD1 ARNT ARID4B SIN3A IRF4 NCOA2 GTF3C2 GC03M045664 SACM1L LIMD1 LIMD1-AS1 LARS2-AS1 LARS2 PIR52455
GH03I045712 Enhancer 0.7 ENCODE 39.3 +23.6 23569 1 INSM2 ZNF507 ZEB1 HIC1 ZNF335 ZNF366 KLF8 ZNF639 GFI1B ZEB2 SACM1L LIMD1-AS1 LZTFL1 RN7SL145P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SACM1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SACM1L gene promoter:

Genomic Locations for SACM1L Gene

Genomic Locations for SACM1L Gene
chr3:45,689,056-45,745,424
(GRCh38/hg38)
Size:
56,369 bases
Orientation:
Plus strand
chr3:45,730,548-45,786,916
(GRCh37/hg19)

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:
    Q9NTJ5-SAC1_HUMAN
    Recommended name:
    Phosphatidylinositide phosphatase SAC1
    Protein Accession:
    Q9NTJ5
    Secondary Accessions:
    • A8K527
    • B4DK71
    • O94935
    • Q7LA14
    • Q7LA22
    • Q96AX7
    • Q9NQ46
    • Q9NQ57

    Protein attributes for SACM1L Gene

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

    Alternative splice isoforms for SACM1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SACM1L Gene

Selected DME Specific Peptides for SACM1L Gene

Q9NTJ5:
  • QDNKTFL
  • QRFVWNG
  • FVQTRGS
  • WSQRPNLKYKP
  • QRLSNTSP
  • DCLDRTN
  • RGSIPVFW
  • GTIHLVAGNYL
  • NCMDCLDRTNV
  • QSLLARRSLQ
  • VGQKLEE
  • IMVVAFSMCIICLLMAGDTWTETLAYVLFWG
  • QTRGSIP
  • LKLHITPEKFYVEACD
  • FQEMSLLERADQRF
  • YAGTGAL
  • IDRVSTE
  • VETEQIV
  • IYGKQVI
  • YDLTHTLQRL
  • FEKIYKNAWADNANACAKQYAGTGALKTDFTRTGKRT
  • LHLTDIQ
  • DGFQRHFDSQ
  • SYKKTMLHLTD
  • QLQRLGVLHVGQ
  • RQDSIDLFLG

Post-translational modifications for SACM1L Gene

  • Ubiquitination at isoforms=2250 and posLast=483483

Domains & Families for SACM1L Gene

Gene Families for SACM1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SACM1L Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SACM1L Gene

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

Phenotypes From GWAS Catalog for SACM1L Gene

Gene Ontology (GO) - Molecular Function for SACM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity TAS,IEA --
GO:0005515 protein binding IPI 14527956
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity ISS,IEA --
GO:0034593 phosphatidylinositol bisphosphate phosphatase activity IEA --
genes like me logo Genes that share ontologies with SACM1L: view
genes like me logo Genes that share phenotypes with SACM1L: view

Animal Models for SACM1L Gene

MGI Knock Outs for SACM1L:

No data available for Human Phenotype Ontology , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SACM1L gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
cytosol 2
cytoskeleton 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SACM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SACM1L: view

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:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0046856 phosphatidylinositol dephosphorylation IEA,IDA 24209621
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 344
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
SACM1L
ECgene alternative splicing isoforms for
SACM1L

Expression for SACM1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SACM1L Gene



Protein tissue co-expression partners for SACM1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SACM1L Gene:

SACM1L

SOURCE GeneReport for Unigene cluster for SACM1L Gene:

Hs.156509

mRNA Expression by UniProt/SwissProt for SACM1L Gene:

Q9NTJ5-SAC1_HUMAN
Tissue specificity: Detected in heart, brain, lung, liver, kidney, pancreas and testis.

Evidence on tissue expression from TISSUES for SACM1L Gene

  • Nervous system(4.9)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with SACM1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SACM1L 33 34
  • 97.79 (n)
cow
(Bos Taurus)
Mammalia SACM1L 33 34
  • 92.28 (n)
dog
(Canis familiaris)
Mammalia SACM1L 33 34
  • 91.65 (n)
rat
(Rattus norvegicus)
Mammalia Sacm1l 33
  • 91.43 (n)
mouse
(Mus musculus)
Mammalia Sacm1l 33 16 34
  • 91.14 (n)
oppossum
(Monodelphis domestica)
Mammalia SACM1L 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SACM1L 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SACM1L 33 34
  • 79.94 (n)
lizard
(Anolis carolinensis)
Reptilia SACM1L 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13854 33
zebrafish
(Danio rerio)
Actinopterygii sacm1la 34
  • 78 (a)
OneToMany
sacm1lb 33 34
  • 70.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sac1 35 33 34
  • 51.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000891 33
  • 50.03 (n)
worm
(Caenorhabditis elegans)
Secernentea sac-1 33 34
  • 54.5 (n)
F30A10.6 35
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC1 33 34
  • 47.52 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14388g 33
  • 46.71 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER447C 33
  • 46.35 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RHD4 33
  • 46.9 (n)
rice
(Oryza sativa)
Liliopsida Os11g0309000 33
  • 46.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2353 34
  • 49 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC19F5.03 33
  • 48.34 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00896 33
  • 46.34 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7050 33
Species where no ortholog for SACM1L was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for SACM1L (if available)
TreeFam:
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 Variation AA Info Type
rs1000015452 -- 45,735,415(+) C/T intron_variant
rs1000018687 -- 45,697,465(+) C/G/T intron_variant
rs1000026516 -- 45,744,046(+) G/A/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000069255 -- 45,735,020(+) C/ intron_variant
rs1000079694 -- 45,729,776(+) C/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv1482139 CNV deletion 17803354
esv1993720 CNV deletion 18987734
esv2554417 CNV deletion 19546169
esv2671340 CNV deletion 23128226
esv2725224 CNV deletion 23290073
esv33645 CNV loss 17666407
esv34130 CNV loss 18971310
esv3561819 CNV deletion 23714750
esv3596053 CNV loss 21293372
nsv1072686 CNV deletion 25765185
nsv1123642 CNV deletion 24896259
nsv819738 CNV gain 19587683
nsv955587 CNV deletion 24416366

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)

Additional Variant Information for SACM1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SACM1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SACM1L Gene

Disorders for SACM1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for SACM1L Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SACM1L

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

No data available for 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 JP (Genomics 2001) 2 3 4 22 58
  2. 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  3. A four-step cycle driven by PI(4)P hydrolysis directs sterol/PI(4)P exchange by the ER-Golgi tether OSBP. (PMID: 24209621) Mesmin B … Antonny B (Cell 2013) 3 4 58
  4. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark SL … van den Oord EJ (Psychological medicine 2012) 3 44 58
  5. The human phosphatidylinositol phosphatase SAC1 interacts with the coatomer I complex. (PMID: 14527956) Rohde HM … Boehmelt G (The Journal of biological chemistry 2003) 3 22 58

Products for SACM1L Gene

Sources for SACM1L Gene

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