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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SACM1L Gene

protein-coding   GIFtS: 59
GCID: GC03P045730

SAC1 suppressor of actin mutations 1-like (yeast)
 Explore 1 disease affiliated with
SACM1L via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SACM1L    

Aliases
for SACM1L gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SAC1 Suppressor Of Actin Mutations 1-Like (Yeast)1 2     Suppressor Of Actin 12
SAC11 2 5     EC 3.1.3.-3
KIAA08511 3 5     EC 3.1.38
Suppressor Of Actin Mutations 1-Like Protein2 3     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


Summaries
for SACM1L gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 plasmid: SACM1L promoter sequence
   Search SABiosciences Chromatin IP Primers for SACM1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 45,786,901 bp from pter
Size:
 56,354 bases      Orientation:
 plus strand

Proteins
for SACM1L gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5 (See protein sequence)
Recommended Name: Phosphatidylinositide phosphatase SAC1  
Size: 587 amino acids; 66967 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NTJ5

    • 4/26 DME Specific Peptides for SACM1L (Q9NTJ5) (see all 26)
     QDNKTFL  IDRVSTE  VETEQIV  DCLDRTN 

    SACM1L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_054735.3  
    ENSEMBL proteins: 
     ENSP00000389975   ENSP00000396387   ENSP00000373713   ENSP00000406263   ENSP00000411966  
     ENSP00000403225   ENSP00000412883   ENSP00000443373  
    Reactome Protein details: Q9NTJ5
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SACM1L
    OriGene Custom Protein Services for SACM1L 
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    Novus Biologicals SACM1L Protein
    Novus Biologicals SACM1L Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SACM1L

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005794Golgi apparatus IDA--
    GO:0030176integral to endoplasmic reticulum membrane IEA--


    SACM1L for ontologies           About GeneDecksing



    SACM1L Antibody Products: 
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    Uscn ELISAs and CLIAs for SACM1L

    Protein Domains /
    Families
    for SACM1L gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SACM1L for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002013 Syja_N

    Graphical View of Domain Structure for InterPro Entry Q9NTJ5

    ProtoNet protein and cluster: Q9NTJ5

    1 Blocks protein family: IPB002013 Synaptojanin

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


    Function
    for SACM1L gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

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

    miRNA
    Products:            		miRTarBase miRNAs that target SACM1L:
    hsa-mir-155 (MIRT005254)

    OriGene 3'-UTR Clone: SACM1L
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SACM1L
    8/22 QIAGEN miScript miRNA 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 plasmid: SACM1L 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SACM1L
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for SACM1L

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SACM1L

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004437inositol or phosphatidylinositol phosphatase activity ----
    GO:0004438phosphatidylinositol-3-phosphatase activity IEA--
    GO:0016791phosphatase activity ISS--
    GO:0034593phosphatidylinositol bisphosphate phosphatase activity IEA--
    GO:0042578phosphoric ester hydrolase activity ----


    SACM1L for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for SACM1L gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1PI Metabolism
    		PI Metabolism1.00
    		3-phosphoinositide biosynthesis0.48
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Synthesis of PIPs at the ER membrane
    		Synthesis of PIPs at the ER membrane1.00
    4Glycerophospholipid biosynthesis
    		Phospholipid metabolism0.64
    5Inositol phosphate metabolism
    		superpathway of inositol phosphate compounds0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/6        Reactome Pathways for SACM1L (see all 6)
        Synthesis of PIPs at the ER membrane
    Metabolism
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism



    SACM1L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SACM1L

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

    5/293 Interacting proteins for SACM1L (Q9NTJ52, 3 ENSP000003737134) via UniProtKB, MINT, STRING, and/or I2D (see all 293)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0008150biological_process ND--
    GO:0016311dephosphorylation ----
    GO:0044281small molecule metabolic process TAS--


    SACM1L for ontologies           About GeneDecksing



    Drugs & Compounds
    for SACM1L gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SACM1L for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SACM1L
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SACM1L / SAC1 

    Transcripts
    for SACM1L gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SACM1L
    8/22 QIAGEN miScript miRNA 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 plasmid: SACM1L 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SACM1L (see all 7)
    OriGene shRNA RFP: SACM1L
    OriGene siRNA: SACM1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SACM1L
    Clone
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    GenScript: all cDNA clones in your preferred vector: SACM1L (NM_014016)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SACM1L

    Additional cDNA 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 

    24/219 AceView cDNA sequences (see all 219):

    BC033581 AA344624 BM873431 AL545144 AB020658 AI814867 BQ440038 CB857401 
    AA888893 BE302313 AI352676 AA280385 CB857693 BC016559 BM874346 AA704025 
    BG260188 BM873489 AI188770 N27587 CB857841 BM996540 AA282650 BM873941 

    GeneLoc Exon Structure


    Expression
    for SACM1L gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SACM1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACTGTATGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SACM1L expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SACM1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SACM1L

    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

        SABiosciences Custom PCR Arrays for SACM1L
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SACM1L

    Orthologs
    for SACM1L gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SACM1L gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SACM1L1 SAC1 suppressor of actin mutations 1-like (yeast) 79.98(n)
    87.33(a)    		   420700  XM_418799.3  XP_418799.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SACM1L6
    		 --
    		 86(a)
    		 1 ↔ 1
    		 GL343324.1(158253-190963)
    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 zgc:1586421 zgc:158642 70.21(n)
    80.14(a)    		   791142  NM_001080624.1  NP_001074093.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Sac11 , 3 dorsal closure polyphosphoinositide
    phosphatase3
    CG9128-PA1    		 47(a)3
    51.67(n)1
    48.33(a)1    		   61F43
    381371  NM_001202087.11  NP_001189016.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F30A10.63
    sac-11    		 Yeast recessive suppressor RSD1 like3
    Protein SAC-11    		 45(a)3
    54.5(n)1
    48.15(a)1    		   I(9496533-9497727)3
    1727781  NM_060117.51  NP_492518.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes SAC11 Sac1p 47.79(n)
    38.01(a)    		   853668   NP_012710.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons RHD41 phosphatidylinositol-4-phosphate phosphatase RHD4 46.68(n)
    36.19(a)    		   824309  NM_115005.4  NP_190714.2 
    rice
    (Oryza sativa)    		 Liliopsida Os02g05543001 hypothetical protein 47.53(n)
    35.08(a)    		   4329650  NM_001053652.1  NP_001047117.1 


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

    Paralogs
    for SACM1L gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for SACM1L gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1070 NCBI SNPs in SACM1L are shown (see all 1070)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs788338851,2
    		F,--45728837(+) ACAAAT/GAATTC 2 -- int1 us2k11Minor allele frequency- G:0.26WA 118
    rs26730541,2
    		C,--45728888(-) ACCTCG/AGCCTC 2 -- int1 us2k17Minor allele frequency- A:0.00WA NA CSA 12
    rs1130950051,2
    		C,--45728927(+) ACCATC/TCTTGC 2 -- us2k1 int11Minor allele frequency- T:0.50WA 2
    rs1499998711,2
    		--45728970(+) TACAAA/TAAATT 2 -- int1 us2k10--------
    rs1452614191,2
    		--45728979(+) TTAGTA/CGGGCG 2 -- int1 us2k10--------
    rs1463381531,2
    		--45729091(+) GCACTC/TCAGCC 2 -- us2k1 int10--------
    rs1122794161,2
    		C,F,--45729340(+) GTTGCC/TCAGGC 2 -- us2k1 int13Minor allele frequency- T:0.06WA CSA 122
    rs1125470271,2
    		C,--45729603(+) TAAGG-/AAAAAA 2 -- us2k1 int11Minor allele frequency- A:0.50CSA 2
    rs114430261,2
    		C--45729604(+) AAAAAA/-TAATA 2 -- us2k1 int12Minor allele frequency- -:0.25NA 4
    rs37558231,2
    		C,F,H,--45729725(-) AATCGA/GTCAAT 2 -- int1 us2k14Minor allele frequency- G:0.01NS EA 388

    HapMap Linkage Disequilibrium report for SACM1L (45730548 - 45786901 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for SACM1L
         2 CNVs: 98300 47995
         5 Indels: 11225 46412 59141 40527 27320

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    Disorders / Diseases
    for SACM1L gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SACM1L for disorders           About GeneDecksing

    OMIM gene information: 606569    OMIM disorders: --

    1 disease for SACM1L:    About MalaCards
    malaria


    Export disorders for SACM1L gene to outside databases

    Publications
    for SACM1L gene

    (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)
    About This Section

    PubMed articles for SACM1L gene, integrated from 9 sources (see all 22):
    (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. (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. (1998)
    3. 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. (2001)
    4. The human phosphatidylinositol phosphatase SAC1 interacts with the coatomer I complex. (PubMed id 14527956)1, 9 Rohde H.M....Boehmelt G. (2003)
    5. Pharmacogenomic study of side-effects for antidepressa nt treatment options in STAR*D. (PubMed id 22041458)1 Clark S.L....van den Oord E.J. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    10. The Sac1 phosphoinositide phosphatase regulates Golgi membrane morphology and mitotic spindle organization in mammals. (PubMed id 18480408)1 Liu Y....Bankaitis V.A. (2008)

    External Searches for SACM1L gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing SACM1L gene

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

    Other Databases showing SACM1L gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0851

    Specialized Databases showing SACM1L gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SACM1L Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SACM1L gene

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