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

SUPV3L1 Gene

protein-coding   GIFtS: 59
GCID: GC10P070939

Suppressor Of Var1, 3-Like 1 (S. Cerevisiae)

(Previous name: suppressor of var1 (S.cerevisiae) 3-like 1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Suppressor Of Var1, 3-Like 1 (S. Cerevisiae)1 2     ATP-Dependent RNA Helicase SUPV3L1, Mitochondrial2
Suppressor Of Var1 3-Like Protein 12 3     Suppressor Of Var1, 3-Like 1(SUV3)2
SUV32 3     EC 3.6.4.133
SUV3-Like Protein 12 3     EC 3.6.18
Suppressor Of Var1 (S.Cerevisiae) 3-Like 11     

External Ids:    HGNC: 114711   Entrez Gene: 68322   Ensembl: ENSG000001565027   OMIM: 6051225   UniProtKB: Q8IYB83   

Export aliases for SUPV3L1 gene to outside databases

Previous GC identifers: GC10P069751 GC10P070026 GC10P070832 GC10P070284 GC10P070609 GC10P064939


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

GeneCards Summary for SUPV3L1 Gene: 
SUPV3L1 (suppressor of var1, 3-like 1 (S. cerevisiae)) is a protein-coding gene. Diseases associated with SUPV3L1 include west nile virus, and japanese encephalitis. GO annotations related to this gene include double-stranded RNA binding and RNA binding.

UniProtKB/Swiss-Prot: SUV3_HUMAN, Q8IYB8
Function: Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome
(mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent
manner. ATPase and ATP-dependent multisubstrate helicase, able to unwind double stranded (ds) DNA and RNA, and
RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria;
regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non
coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect
cells from apoptosis. Associates with mitochondrial DNA

Gene Wiki entry for SUPV3L1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SUPV3L1 gene promoter:
         p53   ATF-2   MEF-2   Nkx2-5   AREB6   MEF-2A   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUPV3L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SUPV3L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SUPV3L1


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

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

SUPV3L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUPV3L1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P070939:  view genomic region     (about GC identifiers)

Start:
70,939,988 bp from pter      End:
70,968,855 bp from pter
Size:
28,868 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SUV3_HUMAN, Q8IYB8 (See protein sequence)
Recommended Name: ATP-dependent RNA helicase SUPV3L1, mitochondrial precursor  
Size: 786 amino acids; 87991 Da
Cofactor: Magnesium or manganese
Subunit: Homodimer; in free form. Component of the mitochondrial degradosome (mtEXO) complex which is a
heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. Interacts with LAMTOR5/HBXIP, WRN and BLM
Subcellular location: Nucleus. Mitochondrion matrix. Mitochondrion matrix, mitochondrion nucleoid
2 PDB 3D structures from and Proteopedia for SUPV3L1:
3RC3 (3D)        3RC8 (3D)    
Secondary accessions: A8K301 O43630

Explore the universe of human proteins at neXtProt for SUPV3L1: NX_Q8IYB8

Explore proteomics data for SUPV3L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYB8

  • 4/19 DME Specific Peptides for SUPV3L1 (Q8IYB8) (see all 19)
     VIDEIQM  LPPGTKL  CGPLKLLA  RHAKQIFP 

    SUPV3L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SUPV3L1 Protein Expression
    REFSEQ proteins: NP_003162.2  
    ENSEMBL proteins: 
     ENSP00000352678   ENSP00000409072  

    Human Recombinant Protein Products for SUPV3L1: 
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    Cloud-Clone Corp. Proteins for SUPV3L1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17352692
    GO:0005739mitochondrion IDA17352692
    GO:0005759mitochondrial matrix IDA12466530
    GO:0042645mitochondrial nucleoid IDA18063578
    GO:0045025mitochondrial degradosome IDA19509288

    SUPV3L1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR022192 SUV3_C
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q8IYB8

    ProtoNet protein and cluster: Q8IYB8

    UniProtKB/Swiss-Prot: SUV3_HUMAN, Q8IYB8
    Similarity: Belongs to the helicase family
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    SUPV3L1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUV3_HUMAN, Q8IYB8
    Function: Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome
    (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent
    manner. ATPase and ATP-dependent multisubstrate helicase, able to unwind double stranded (ds) DNA and RNA, and
    RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria;
    regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non
    coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect
    cells from apoptosis. Associates with mitochondrial DNA
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Enzyme regulation: Helicase activity toward DNA substrate is inhibited by micromolar concentrations of
    5,6-dichloro-1-(beta-D-ribofuranosyl)benzotriazole (DRBT) and 4,5,6,7-tetrabromobenzotriazole (TBBT). Helicase
    activity toward RNA substrate is inhibited by elevated concentrations of TBBT. Inhibited by some ring-expanded
    nucleoside analogs
    Biophysicochemical properties: Kinetic parameters: KM=41.9 uM for ATP; pH dependence: Optimum pH is 5.0;
    Temperature dependence: Optimum temperature is 30 degrees Celsius;

         Genatlas biochemistry entry for SUPV3L1:
    yeast mitochondrial protein homolog,putative ATP-dependent RNA helicase

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IMP12466530
    GO:0003678DNA helicase activity IMP12466530
    GO:0003723RNA binding TAS9925937
    GO:0003725double-stranded RNA binding IDA19509288
         
    SUPV3L1 for ontologies           About GeneDecksing


    Phenotypes:
         15/21 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Supv3l1) (see all 21):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     hematopoietic system  immune system  integument  mortality/aging  muscle 

    SUPV3L1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SUPV3L1: Supv3l1tm2.3Jkl Supv3l1tm1Whle Supv3l1tm2.2Jkl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SUPV3L1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SUPV3L1 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SUPV3L1

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

    5/865 Interacting proteins for SUPV3L1 (Q8IYB82, 3 ENSP000003526784) via UniProtKB, MINT, STRING, and/or I2D (see all 865)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR5P619642, 3MINT-7945693 I2D: score=4 
    EIF2S3P410912, 3MINT-7945693 I2D: score=1 
    GCN1L1Q926162, 3MINT-7945693 I2D: score=1 
    PRKAG1P546192, 3MINT-7945693 I2D: score=1 
    PSMD2Q132002, 3MINT-7945693 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000958mitochondrial mRNA catabolic process IMP19864255
    GO:0000962positive regulation of mitochondrial RNA catabolic process IMP19864255
    GO:0000965mitochondrial RNA 3'-end processing IMP19864255
    GO:0006310DNA recombination IMP17961633
    GO:0006401RNA catabolic process IMP18678873

    SUPV3L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SUPV3L1 (SUV3)

    2 HMDB Compounds for SUPV3L1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    Search CenterWatch for drugs/clinical trials and news about SUPV3L1 / SUV3

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SUPV3L1 gene: 
    NM_003171.3  

    Unigene Cluster for SUPV3L1:

    Suppressor of var1, 3-like 1 (S. cerevisiae)
    Hs.106469  [show with all ESTs]
    Unigene Representative Sequence: BC036112
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359655(uc001jpe.1 uc010qjd.1) ENST00000471069 ENST00000483572
    ENST00000422378 ENST00000478227 ENST00000486661 ENST00000497254

    miRNA
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    Additional mRNA sequence: 

    AF042169.1 AK290416.1 AK299670.1 BC036112.1 

    7 DOTS entries:

    DT.412936  DT.101959689  DT.92429438  DT.92429444  DT.100651596  DT.121300968  DT.86993512 

    24/160 AceView cDNA sequences (see all 160):

    NM_003171 BU168259 BE784830 AW163267 AA910260 BM974990 AL701777 BI062173 
    BM450605 CR626248 AW880619 BX504619 BQ067555 BC036112 BI061970 AA654266 
    BI062338 CD677477 BM703154 BG741482 BM664654 BM460613 BI063321 BP341740 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SUPV3L1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                          -     -                                         -                                                         
    SP2:                                -                                                                                                   
    SP3:                          -                                                                                                         
    SP4:                                                                                                                                    
    SP5:                          -     -     -     -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for SUPV3L1

    (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

    SUPV3L1 expression in normal human tissues (normalized intensities)      SUPV3L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAAACAGC
    SUPV3L1 Expression
    About this image


    SUPV3L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Breast
             breast ; myoepithelial cells   

    See SUPV3L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SUPV3L1

    SOURCE GeneReport for Unigene cluster: Hs.106469

    UniProtKB/Swiss-Prot: SUV3_HUMAN, Q8IYB8
    Tissue specificity: Broadly expressed

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    In Situ
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    (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 SUPV3L1 gene from 10/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Supv3l11 , 5 suppressor of var1, 3-like 1 (S. cerevisiae)1, 5 85.05(n)1
    88.69(a)1
      10 (32.40 cM)5
    3383591  NM_181423.21  NP_852088.11 
     624292095 
    chicken
    (Gallus gallus)
    Aves SUPV3L11 suppressor of var1, 3-like 1 (S. cerevisiae) 70.36(n)
    72.2(a)
      423697  NM_001006498.1  NP_001006498.1 
    lizard
    (Anolis carolinensis)
    Reptilia SUPV3L16
    Uncharacterized protein
    68(a)
    1 ↔ 1
    GL343215.1(2010885-2036827)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.100772 Transcribed sequence with weak similarity to protein refNP_502088.1 (C.elegans) ATP-dependent RNA helicase [Caenorhabditis elegans] less 77.98(n)    BX738835.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AW154428.12   -- 69.14(n)    AW154428.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG97911 , 3 ATP dependent RNA helicase3
    CG97911
    60(a)3
    57.25(n)1
    61.45(a)1
      82A43
    405431  NM_141195.31  NP_649452.31 
    worm
    (Caenorhabditis elegans)
    Secernentea C08F8.23
    CELE_C08F8.21
    ATP-dependent RNA helicase3
    Protein C08F8.21
    50(a)3
    53.81(n)1
    49.37(a)1
      IV(11149421-11154277)3
    1780221  NM_001047446.31  NP_001040911.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SUV3(YPL029W)4 ATP-dependent RNA helicase, component of the mitochondrial degradosome along with the RNase Dss1p; the degradosome associates with the ribosome and mediates RNA turnover; also required during splicing of the COX1 AI5_beta intron less   --   16(495506-497719) 856078  NP_015296.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATSUV31 ATP-dependent RNA helicase, mitochondrial (SUV3) 52.56(n)
    45.83(a)
      827134  NM_117564.3  NP_193215.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g07465001 hypothetical protein 52.24(n)
    43.29(a)
      4334089  NM_001057785.1  NP_001051250.1 


    ENSEMBL Gene Tree for SUPV3L1 (if available)
    TreeFam Gene Tree for SUPV3L1 (if available)

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

    (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) 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

    10/750 SNPs in SUPV3L1 are shown (see all 750)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs352174941,2
    C,F--70938021(+) TGGACG/ATTGCA 1 -- us2k14Minor allele frequency- A:0.17NA WA 242
    rs114366921,2
    C--70938091(+) AAAAA-/AGATTT 1 -- us2k1 trp31Minor allele frequency- A:0.50CSA 2
    rs1398842771,2
    --70938223(+) CTTGCC/TTCAGT 1 -- us2k10--------
    rs1384766821,2
    C--70938290(+) CATCA-/TTGTTTA 1 -- us2k10--------
    rs1852726821,2
    --70938316(+) CATATG/TTAGTC 1 -- us2k10--------
    rs768513811,2
    F--70938446(+) TTCCTC/TCCTGC 1 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1502189671,2
    C--70938509(+) TTCTC-/AAAAAA 1 -- us2k10--------
    rs1901211381,2
    --70938736(+) GAGTAA/GTAAGT 1 -- us2k10--------
    rs1813233741,2
    --70939002(+) TTAGAC/TGGAGT 1 -- us2k10--------
    rs1863398061,2
    --70939033(+) GGAGAG/TCAGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SUPV3L1 (70939988 - 70968855 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SUPV3L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508589CNV Loss20534489
    nsv895694CNV Gain21882294

    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 605122    OMIM disorders: --

    7 diseases for SUPV3L1:    About MalaCards
    west nile virus    japanese encephalitis    smallpox    encephalitis
    hepatitis c    alzheimer's disease    hepatitis


    SUPV3L1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SUPV3L1
    Human Genome Epidemiology (HuGE) Navigator: SUPV3L1 (3 documents)

    Export disorders for SUPV3L1 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)
    About This Section

    PubMed articles for SUPV3L1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with SUPV3L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP. (PubMed id 16176273)1, 2, 3, 9 Minczuk M....Stepien P.P. (2005)
    2. Down-regulation of human RNA/DNA helicase SUV3 induces apoptosis by a caspase- and AIF-dependent pathway. (PubMed id 17352692)1, 2, 9 Szczesny R.J....Stepien P.P. (2007)
    3. Human mitochondrial RNA turnover caught in flagranti: involvement of hSuv3p helicase in RNA surveillance. (PubMed id 19864255)1, 2 Szczesny R.J....Stepien P.P. (2010)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Human mitochondrial SUV3 and polynucleotide phosphory lase form a 330-kDa heteropentamer to cooperatively degrade double-stranded RNA with a 3'-to-5' directionality. (PubMed id 19509288)1, 2 Wang D.D....Lee W.H. (2009)
    6. Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells. (PubMed id 18678873)1, 2 Khidr L....Lee W.H. (2008)
    7. The layered structure of human mitochondrial DNA nucleoids. (PubMed id 18063578)1, 2 Bogenhagen D.F....Burke S. (2008)
    8. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PubMed id 17373700)1, 4 Morgan A.R....Williams J. (2007)
    9. Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. (PubMed id 17961633)1, 2 Pereira M....Stepien P.P. (2007)
    10. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6832 HGNC: 11471 AceView: SUPV3L1 Ensembl:ENSG00000156502 euGenes: HUgn6832
    ECgene: SUPV3L1 H-InvDB: SUPV3L1

    (According to HUGE)
    About This Section
      --

    (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 SUPV3L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SUPV3L1 gene:
    Search GeneIP for patents involving SUPV3L1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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