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SACM1L Gene

protein-coding   GIFtS: 61
GCID: GC03P045730

SAC1 Suppressor Of Actin Mutations 1-Like (Yeast)

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SAC1 Suppressor Of Actin Mutations 1-Like (Yeast)1 2     Suppressor Of Actin 12
Suppressor Of Actin Mutations 1-Like Protein2 3     EC 3.1.3.-3
SAC12 5     EC 3.1.38
KIAA08513 5     EC 3.1.3.368
Phosphatidylinositide Phosphatase SAC12     EC 3.1.3.778

External Ids:    HGNC: 170591   Entrez Gene: 229082   Ensembl: ENSG000002114567   OMIM: 6065695   UniProtKB: Q9NTJ53   

Export aliases for SACM1L gene to outside databases

Previous GC identifers: GC03P044971 GC03P045550 GC03P045691 GC03P045706


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SACM1L Gene:
SACM1L (SAC1 suppressor of actin mutations 1-like (yeast)) is a protein-coding gene. Diseases associated with SACM1L include malaria. GO annotations related to this gene include phosphatase activity and phosphatidylinositol-4-phosphate phosphatase activity. An important paralog of this gene is INPP5F.

UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5
Function: Phosphoinositide phosphatase that hydrolyzes PtdIns(3)P and PtdIns(4)P. Has low activity towards
PtdIns(3,5)P2 (By similarity)

Gene Wiki entry for SACM1L Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SACM1L gene promoter:
         AP-1   AML1a   CBF-C   Max   CBF-A   CP1A   CP1C   NF-Y   c-Myc   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSACM1L promoter sequence
   Search Chromatin IP Primers for SACM1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SACM1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.3

SACM1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SACM1L gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P045730:  view genomic region     (about GC identifiers)

Start:
45,730,548 bp from pter      End:
45,786,916 bp from pter
Size:
56,369 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5 (See protein sequence)
Recommended Name: Phosphatidylinositide phosphatase SAC1  
Size: 587 amino acids; 66967 Da
Sequence caution: Sequence=BAA74874.2; Type=Erroneous initiation;
Secondary accessions: A8K527 O94935 Q7LA14 Q7LA22 Q96AX7 Q9NQ46 Q9NQ57

Explore the universe of human proteins at neXtProt for SACM1L: NX_Q9NTJ5

Explore proteomics data for SACM1L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys250, Lys483
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SACM1L (Q9NTJ5) (see all 26)
     QDNKTFL  IDRVSTE  VETEQIV  DCLDRTN 


    See SACM1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054735.3  
    ENSEMBL proteins: 
     ENSP00000389975   ENSP00000396387   ENSP00000373713   ENSP00000406263   ENSP00000411966  
     ENSP00000403225   ENSP00000412883   ENSP00000443373  
    Reactome Protein details: Q9NTJ5

    SACM1L Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002013 Syja_N

    Graphical View of Domain Structure for InterPro Entry Q9NTJ5

    ProtoNet protein and cluster: Q9NTJ5

    1 Blocks protein domain: IPB002013 Synaptojanin

    UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5
    Similarity: Contains 1 SAC domain


    SACM1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAC1_HUMAN, Q9NTJ5
    Function: Phosphoinositide phosphatase that hydrolyzes PtdIns(3)P and PtdIns(4)P. Has low activity towards
    PtdIns(3,5)P2 (By similarity)

         Enzyme Numbers (IUBMB): EC 3.1.3.362 EC 3.1.32 EC 3.1.3.-1 EC 3.1.3.772

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004438phosphatidylinositol-3-phosphatase activity IEA--
    GO:0005515protein binding IPI14527956
    GO:0016791phosphatase activity ISS--
    GO:0034593phosphatidylinositol bisphosphate phosphatase activity IEA--
    GO:0042578phosphoric ester hydrolase activity ----
         
    SACM1L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SACM1L:
     Decreased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SACM1L
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SACM1L
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SACM1L

    miRNA
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    miRTarBase miRNAs that target SACM1L:
    hsa-mir-101-3p (MIRT027375), hsa-mir-21-5p (MIRT030850), hsa-mir-26b-5p (MIRT029463), hsa-mir-155-5p (MIRT005254), hsa-mir-92a-3p (MIRT049103), hsa-mir-324-3p (MIRT042889), hsa-mir-16-5p (MIRT031704)

    Block miRNA regulation of human, mouse, rat SACM1L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SACM1L (see all 22):
    hsa-miR-498 hsa-miR-148b* hsa-miR-181c hsa-miR-4315 hsa-miR-507 hsa-miR-3190 hsa-miR-3692 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidSACM1L 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SACM1L
    Predesigned siRNA for gene silencing in human, mouse, rat SACM1L

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SACM1L (NM_014016)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SACM1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SACM1L

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SACM1L


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SAC1_HUMAN, Q9NTJ5: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus4
    plasma membrane3
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005794Golgi apparatus IDA--
    GO:0030176integral component of endoplasmic reticulum membrane IEA--
    GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA--

    SACM1L for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SACM1L About    
    See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the ER membrane0.00
    3-phosphoinositide biosynthesis0.47
    Synthesis of PIPs at the Golgi membrane0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    4Inositol phosphate metabolism (KEGG)
    superpathway of inositol phosphate compounds0.60
    53-phosphoinositide degradation
    3-phosphoinositide degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for SACM1L
        3-phosphoinositide biosynthesis
    3-phosphoinositide degradation
    superpathway of inositol phosphate compounds

    2 Reactome Pathways for SACM1L
        Synthesis of PIPs at the ER membrane
    Synthesis of PIPs at the Golgi membrane



    SACM1L for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SACM1L
    Interactions:

        Search GeneGlobe Interaction Network for SACM1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SACM1L (Q9NTJ51, 2, 3 ENSP000003737134) via UniProtKB, MINT, STRING, and/or I2D (see all 456)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0008150biological_process ND--
    GO:0044281small molecule metabolic process TAS--
    GO:0046856phosphatidylinositol dephosphorylation IEA--

    SACM1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SACM1L (SAC1)

    2 Novoseek inferred chemical compound relationships for SACM1L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 59.6 1 14527956 (1)
    atp 28.6 2 10224048 (1), 14527956 (1)



    SACM1L for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SACM1L gene: 
    NM_014016.3  

    Unigene Cluster for SACM1L:

    SAC1 suppressor of actin mutations 1-like (yeast)
    Hs.156509  [show with all ESTs]
    Unigene Representative Sequence: CR749564
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464524 ENST00000455997(uc011bag.1) ENST00000418611 ENST00000463237
    ENST00000389061(uc003cos.2 uc011bah.1) ENST00000441228 ENST00000463347
    ENST00000438671 ENST00000478586 ENST00000445499 ENST00000463659 ENST00000433336
    ENST00000464102(uc003cot.2) ENST00000471207 ENST00000485311 ENST00000541314

    miRNA
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    Block miRNA regulation of human, mouse, rat SACM1L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SACM1L (see all 22):
    hsa-miR-498 hsa-miR-148b* hsa-miR-181c hsa-miR-4315 hsa-miR-507 hsa-miR-3190 hsa-miR-3692 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidSACM1L 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SACM1L
      QuantiFast Probe-based Assays in human, mouse, rat SACM1L

    Additional mRNA sequence: 

    AB020658.1 AK126434.1 AK291142.1 AK296421.1 AK301248.1 AL136831.1 BC016559.1 BC033581.1 
    CR749564.1 

    13 DOTS entries:

    DT.314635  DT.120917158  DT.100814802  DT.91832658  DT.407453  DT.100814807  DT.120917186  DT.120917201 
    DT.100814806  DT.120917160  DT.120917188  DT.102825572  DT.95129836 

    Selected AceView cDNA sequences (see all 219):

    AA888893 AB020658 AI814867 CD625110 AW630817 BM874346 BM873489 AA382732 
    CB857841 CB857401 N27587 AA344624 AI188770 CB857693 AA280385 BC033581 
    BM873941 AA669997 AA704025 BM996540 AL545144 BM873431 AI436098 BE302313 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SACM1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGTATGT
    SACM1L Expression
    About this image

    SACM1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SACM1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156509

    UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5
    Tissue specificity: Detected in heart, brain, lung, liver, kidney, pancreas and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SACM1L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SACM1L gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sacm1l1 , 5 SAC1 (suppressor of actin mutations 1, homolog)-like more1, 5 91.14(n)1
    95.06(a)1
      9 (74.08 cM)5
    834931  NM_030692.41  NP_109617.11 
     1235298825 
    chicken
    (Gallus gallus)
    Aves SACM1L1 SAC1 suppressor of actin mutations 1-like (yeast) 79.94(n)
    87.07(a)
      420700  XM_418799.4  XP_418799.4 
    lizard
    (Anolis carolinensis)
    Reptilia SACM1L6
    SAC1 suppressor of actin mutations 1-like (yeast)
    78(a)
    1 ↔ 1
    GL343324.1(156619-212012)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.138542 Transcribed sequence with moderate similarity to protein more 83.25(n)    AL898947.2 
    zebrafish
    (Danio rerio)
    Actinopterygii sacm1lb1 SAC1 suppressor of actin mutations 1-like b (yeast) 70.21(n)
    80.14(a)
      791142  NM_001080624.1  NP_001074093.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sac11 , 3 dorsal closure polyphosphoinositide
    phosphatase3
    Sac11
    47(a)3
    51.64(n)1
    48.25(a)1
      61F43
    381371  NM_001202087.11  NP_001189016.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F30A10.63
    sac-11
    Yeast recessive suppressor RSD1 like3
    sac-11
    45(a)3
    54.5(n)1
    48.15(a)1
      I(9496533-9497727)3
    1727781  NM_060117.61  NP_492518.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAC11 SAC1 47.52(n)
    38.04(a)
      853668   NP_012710.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RHD41 RHD4 46.9(n)
    36.67(a)
      824309  NM_115005.4  NP_190714.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g03090001 Os11g0309000 46.53(n)
    35.42(a)
      4350352  NM_001074287.1  NP_001067755.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SACM1L gene
    INPP5F2  
    1 SIMAP similar gene for SACM1L using alignment to 8 protein entries:     SAC1_HUMAN (see all proteins):
    SYNJ1

    SACM1L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SACM1L (see all 1207)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105753761,2
    C--45715908(+) ACTGGGT/-CTGAT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs27424211,2
    C,F,O,H--45732515(+) TCAGCT/GGCCAG 1 -- int127Minor allele frequency- G:0.31EA NS NA CSA WA 4611
    rs1447687211,2
    C--45732566(+) AATCCC/TCGCAT 1 -- int10--------
    rs1144436441,2
    C,F--45732597(+) TTGTCC/GCTGAA 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1890809471,2
    --45732748(+) AGTTTA/TGAGTG 1 -- int10--------
    rs27424221,2
    C,F,O,A,H--45732820(+) TTAGAG/ATTTCC 1 -- int111Minor allele frequency- A:0.20EA NS NA CSA WA 2135
    rs1478640761,2
    C--45732859(+) TGCTCC/TGAGGC 1 -- int10--------
    rs1160143181,2
    C,F--45732975(+) AGCCAT/CTTTTT 1 -- int11Minor allele frequency- C:0.02WA 118
    rs1916429291,2
    --45733046(+) TTATTA/GCAAAA 1 -- int10--------
    rs1842287671,2
    --45733073(+) TTATTG/TAAATG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SACM1L (45730548 - 45786916 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SACM1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1482139CNV Deletion17803354
    esv2725224CNV Deletion23290073
    esv1993720CNV Deletion18987734
    esv2554417CNV Deletion19546169
    esv2671340CNV Deletion23128226
    nsv876735CNV Loss21882294
    esv34130CNV Loss18971310
    esv33645CNV Loss17666407
    nsv876734CNV Gain21882294
    nsv819738CNV Gain19587683

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606569    OMIM disorders: --

    1 disease for SACM1L:    
    About MalaCards
    malaria


    SACM1L for disorders           About GeneDecksing

    Genetic Association Database (GAD): SACM1L

    Export disorders for SACM1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SACM1L gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SACM1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. (PubMed id 11352561)1, 2, 3, 9 Kiss H.... Dumanski J.P. (Genomics 2001)
    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. (PubMed id 10048485)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    3. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PubMed id 22041458)1, 4 Clark S.L....van den Oord E.J. (Psychol Med 2012)
    4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    5. The human phosphatidylinositol phosphatase SAC1 interacts with the coatomer I complex. (PubMed id 14527956)1, 9 Rohde H.M....Boehmelt G. (J. Biol. Chem. 2003)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22908 HGNC: 17059 AceView: SACM1L Ensembl:ENSG00000211456 euGenes: HUgn22908
    ECgene: SACM1L H-InvDB: SACM1L

    (According to HUGE)
    About This Section

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    HUGE: KIAA0851

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SACM1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SACM1L gene:
    Search GeneIP for patents involving SACM1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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