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SLFN12L Gene

protein-coding   GIFtS: 42
GCID: GC17M033791

Schlafen Family Member 12-Like

  See related diseases
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
Schlafen Family Member 12-Like1 2
SLFN53

External Ids:    HGNC: 339201   Entrez Gene: 1005067362   Ensembl: ENSG000002050457   OMIM: 6149565   UniProtKB: Q6IEE83   

Export aliases for SLFN12L gene to outside databases

Previous GC identifers: GC17M030823 GC17M033801


(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 SLFN12L Gene:
SLFN12L (schlafen family member 12-like) is a protein-coding gene. Diseases associated with SLFN12L include type 1 diabetes, and hiv-1. An important paralog of this gene is SLFN13.


(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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLFN12L gene promoter:
         HFH-3   Nkx2-2   STAT5A   HNF-3beta   LCR-F1   C/EBPalpha   FOXL1   FOXI1   AREB6   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLFN12L promoter sequence
   Search Chromatin IP Primers for SLFN12L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLFN12L


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

SLFN12L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLFN12L gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M033791:  view genomic region     (about GC identifiers)

Start:
33,791,268 bp from pter      End:
33,864,880 bp from pter
Size:
73,613 bases      Orientation:
minus 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: SN12L_HUMAN, Q6IEE8 (See protein sequence)
Recommended Name: Schlafen family member 12-like  
Size: 620 amino acids; 70568 Da
Sequence caution: Sequence=CAD80167.1; Type=Erroneous gene model prediction;
Alternative splicing: 2 isoforms:  Q6IEE8-1   Q6IEE8-2   (Ref.1 (AK172761) sequence is in conflict in position: 13:F->S)

Explore the universe of human proteins at neXtProt for SLFN12L: NX_Q6IEE8

Explore proteomics data for SLFN12L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLFN12L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001182719.1  
    ENSEMBL proteins: 
     ENSP00000437635   ENSP00000354412   ENSP00000389348  

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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:
     IPR007421 ATPase_AAA-4

    Graphical View of Domain Structure for InterPro Entry Q6IEE8

    ProtoNet protein and cluster: Q6IEE8

    1 Blocks protein domain: IPB002222 Ribosomal protein S19/S15

    UniProtKB/Swiss-Prot: SN12L_HUMAN, Q6IEE8
    Similarity: Belongs to the Schlafen family


    SLFN12L 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    SLFN12L for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slfn3):
     immune system 

    SLFN12L for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-mir-335-5p (MIRT016834)

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    (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
    SN12L_HUMAN, Q6IEE8: Membrane; Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    SLFN12L 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLFN12L
    Interactions:

        Search GeneGlobe Interaction Network for SLFN12L

    (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 SLFN12L (SN12L)



    (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 SLFN12L gene (2 alternative transcripts): 
    NM_001145027.1  NM_001195790.1  

    Unigene Cluster for SLFN12L:

    Schlafen family member 12-like
    Hs.447559  [show with all ESTs]
    Unigene Representative Sequence: AK172761
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587436 ENST00000590802 ENST00000260908 ENST00000361112(uc002hjn.3)
    ENST00000449046(uc021tuy.1)
    miRNA
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    Additional mRNA sequence: 

    AK172761.1 XR_132642.3 XR_159285.2 

    3 DOTS entries:

    DT.102822803  DT.120923061  DT.40283359 

    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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    SLFN12L expression in normal human tissues (normalized intensities)      SLFN12L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAAAGATCT
    SLFN12L Expression
    About this image


    SLFN12L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    SLFN12L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLFN12L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.447559
        Custom PCR Arrays for SLFN12L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLFN12L

    (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 human and mouse.

    Orthologs for SLFN12L gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slfn35
    Slfn41
    schlafen 35
    schlafen 41
    66.87(n)1
    50.3(a)1
      11 (50.30 cM)5
    205581  NM_011410.21  NP_035540.21 
     831913305 


    ENSEMBL Gene Tree for SLFN12L (if available)
    TreeFam Gene Tree for SLFN12L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLFN12L gene
    SLFN132  SLFN122  SLFN142  SLFN112  SLFN52  
    5 SIMAP similar genes for SLFN12L using alignment to 3 protein entries:     SN12L_HUMAN (see all proteins):
    SLFN12    SLFN11    SLFN14    SLFN5    SLFN13

    SLFN12L 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 SLFN12L (see all 359)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1176438541,2
    F--33801460(+) AACTTG/TCAATG 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1894722531,2
    --33801464(+) TGCAAC/TGTTTT 1 -- ds50010--------
    rs1921760141,2
    C--33801657(+) ATTCTC/GCAGCC 1 -- ds50010--------
    rs98929661,2
    C,F--33801669(+) ggcgcG/Agtggc 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs2005437201,2
    --33801709(+) CCGGG-/TGGGGG 1 -- ds50010--------
    rs571419591,2
    C,F--33801710(+) CCGGGG/TGGGGG 1 -- ds50012Minor allele frequency- T:0.05WA 120
    rs711527191,2
    C--33801710(+) CGGGG-/CGG/
            
    GGGGG
    2 -- ds5001 cds11NA 2
    rs1129974691,2
    C--33801711(+) CGGGGC/G/TGGGGG 1 -- ds50011WA 2
    rs1997170661,2
    C--33801716(+) GGGGG-/GG    
       
    /GT/T
    GTTGA
    1 -- ds50010--------
    rs346566401,2
    C,F--33801721(+) TGTTGA/GATCAC 1 -- ds50013Minor allele frequency- G:0.19WA NA EA 124

    HapMap Linkage Disequilibrium report for SLFN12L (33791268 - 33864880 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SLFN12L: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLFN12L
    DNA2.0 Custom Variant and Variant Library Synthesis for SLFN12L

    (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: 614956    OMIM disorders: --

    2 diseases for SLFN12L:    About MalaCards
    type 1 diabetes    hiv-1


    SLFN12L for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLFN12L
    Human Genome Epidemiology (HuGE) Navigator: SLFN12L (2 documents)

    Export disorders for SLFN12L 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 SLFN12L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SLFN12L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. (PubMed id 20045101)1, 4 Ferreira M.A....Martin N.G. (Am. J. Hum. Genet. 2010)
    3. Genome-wide association scan of trait depression. (PubMed id 20800221)1, 4 Terracciano A....Costa P.T. (Biol. Psychiatry 2010)
    4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (Nature 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. (PubMed id 14569139)1, 2 Kehrer-Sawatzki H.... Jenne D.E. (J. Med. Genet. 2003)
    7. Schlafen, a new family of growth regulatory genes that affect thymocyte development. (PubMed id 9846487)1, 3 Schwarz D.A....Hedrick S.M. (Immunity 1998)
    8. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (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: 100506736 HGNC: 33920 Ensembl:ENSG00000205045 euGenes: HUgn100506736 ECgene: SLFN12L
    H-InvDB: SLFN12L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLFN12L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLFN12L gene:
    Search GeneIP for patents involving SLFN12L

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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