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NVL Gene

protein-coding   GIFtS: 61
GCID: GC01M224416

Nuclear VCP-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
Nuclear VCP-Like1 2
Nuclear VCP-Like Protein1 3
Nuclear Valosin-Containing Protein-Like1 2
NVLp2 3

External Ids:    HGNC: 80701   Entrez Gene: 49312   Ensembl: ENSG000001437487   OMIM: 6024265   UniProtKB: O153813   

Export aliases for NVL gene to outside databases

Previous GC identifers: GC01M222845 GC01M220232 GC01M220822 GC01M221389 GC01M220721 GC01M222482 GC01M194934


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NVL Gene:
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple
transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as
major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein
(major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID:
15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. (provided by RefSeq, Aug
2011)

GeneCards Summary for NVL Gene:
NVL (nuclear VCP-like) is a protein-coding gene. Diseases associated with NVL include major depressive disorder, and tuberculosis. GO annotations related to this gene include nucleoside-triphosphatase activity.

Gene Wiki entry for NVL 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_000001.11  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NVL gene promoter:
         AREB6   Pbx1a   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNVL promoter sequence
   Search Chromatin IP Primers for NVL

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


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

Entrez Gene cytogenetic band: 1q41-q42.2   Ensembl cytogenetic band:  1q42.11   HGNC cytogenetic band: 1q41-q42.2

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M224416:  view genomic region     (about GC identifiers)

Start:
224,415,036 bp from pter      End:
224,518,089 bp from pter
Size:
103,054 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: NVL_HUMAN, O15381 (See protein sequence)
Recommended Name: Nuclear valosin-containing protein-like  
Size: 856 amino acids; 95051 Da
Subunit: Interacts with NCL/nucleolin
1 PDB 3D structure from and Proteopedia for NVL:
2X8A (3D)    
Secondary accessions: B4DMC4 B4DP98 Q96EM7
Alternative splicing: 5 isoforms:  O15381-1   O15381-2   O15381-3   O15381-4   O15381-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NVL: NX_O15381

Explore proteomics data for NVL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys759
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001230075.1  NP_001230076.1  NP_002524.2  NP_996671.1  

    ENSEMBL proteins: 
     ENSP00000419420   ENSP00000375747   ENSP00000281701   ENSP00000417826   ENSP00000417213  
     ENSP00000419930   ENSP00000419828   ENSP00000418380   ENSP00000394884   ENSP00000419586  
     ENSP00000418085   ENSP00000341362   ENSP00000354779  

    NVL Human Recombinant Protein Products:

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    Novus Biologicals NVL Proteins
    Novus Biologicals NVL Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for NVL

    NVL Antibody Products:

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    LSBio Antibodies in human, mouse, rat for NVL

    NVL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for NVL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    4 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry O15381

    ProtoNet protein and cluster: O15381

    UniProtKB/Swiss-Prot: NVL_HUMAN, O15381
    Similarity: Belongs to the AAA ATPase family


    NVL 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:
         Genatlas biochemistry entry for NVL:
    nuclear valosin containing protein like 1,with two alternatively spliced forms NVL1,83kDa,not phosphorylated,NVL2
    phosphorylated,95-110kDa

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0009378four-way junction helicase activity ----
    GO:0016301kinase activity ----
    GO:0016887ATPase activity ----
         
    NVL for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NVL:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NVL
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NVL
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    miRNA
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    miRTarBase miRNAs that target NVL:
    hsa-let-7b-5p (MIRT032271), hsa-mir-26b-5p (MIRT029165), hsa-mir-186-5p (MIRT044927), hsa-mir-25-3p (MIRT050341), hsa-mir-138-5p (MIRT045833)

    Block miRNA regulation of human, mouse, rat NVL using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NVL:
    hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidNVL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NVL

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    GenScript: all cDNA clones in your preferred vector (see all 2): NVL (NM_002533)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NVL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NVL

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NVL 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NVL


    (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
    NVL_HUMAN, O15381: Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    chloroplast1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS9286697
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm ----
    GO:0016235aggresome ----

    NVL 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 NVL About    
    See pathways by source

    SuperPathContained pathways About
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for NVL):
        Ribosome biogenesis in eukaryotes


    NVL for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for NVL

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

    Selected Interacting proteins for NVL (O153812, 3 ENSP000002817014) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OSGEPQ9NPF42, 3, ENSP000002065424MINT-8265180 I2D: score=2 STRING: ENSP00000206542
    CRMP1Q141942, 3MINT-63102 I2D: score=4 
    HSPA5P110212, 3MINT-8378890 I2D: score=1 
    ENSG00000096150P622693I2D: score=2 
    ENSG00000223367P622693I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----

    NVL 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 NVL



    (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 NVL gene (4 alternative transcripts): 
    NM_001243146.1  NM_001243147.1  NM_002533.3  NM_206840.2  

    Unigene Cluster for NVL:

    Nuclear VCP-like
    Hs.497867  [show with all ESTs]
    Unigene Representative Sequence: NM_002533
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000481213 ENST00000483094 ENST00000493060 ENST00000489194 ENST00000469968
    ENST00000391875 ENST00000281701(uc001hok.3 uc001hol.3 uc010pvd.2 uc010pve.2 uc010pvf.2)
    ENST00000469075 ENST00000482491 ENST00000496393 ENST00000462893 ENST00000467882
    ENST00000488718 ENST00000492281 ENST00000436927 ENST00000470989 ENST00000470903
    ENST00000461466
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NVL using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NVL:
    hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidNVL 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NVL
    Predesigned siRNA for gene silencing in human, mouse, rat NVL
    Clone
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    OriGene clones in human, mouse for NVL (see all 13)
    OriGene ORF clones in mouse, rat for NVL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NVL (NM_002533)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NVL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NVL
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NVL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NVL
      QuantiTect SYBR Green Assays in human, mouse, rat NVL
      QuantiFast Probe-based Assays in human, mouse, rat NVL

    Additional mRNA sequence: 

    AF401208.1 AK293923.1 AK297070.1 AK297396.1 AK298244.1 AK298826.1 BC005897.1 BC012105.1 
    U68140.1 U78772.1 

    20 DOTS entries:

    DT.442615  DT.100026180  DT.100666554  DT.100026181  DT.95161233  DT.100796771  DT.100796773  DT.121430114 
    DT.100796768  DT.121430129  DT.92431595  DT.92431601  DT.95161234  DT.100026182  DT.121430166  DT.121430176 
    DT.121430187  DT.97790989  DT.100799980  DT.121430144 

    Selected AceView cDNA sequences (see all 151):

    BM764006 AI955163 BX508792 AW136416 BQ129367 BQ949149 CA389622 NM_002533 
    BM693264 BM979309 CA488893 BE254577 AF401208 BM793828 BQ028394 BF001473 
    CB160823 BM668588 BM970938 BU683548 BC012105 BU182097 BQ919152 BM849439 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NVL (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b · 8c ^ 9 ^
    SP1:                                                                                -     -           -                                                         
    SP2:                                            -                                   -     -           -                                                         
    SP3:                                            -                                   -     -           -     -     -     -     -     -                           
    SP4:                                                                                      -           -                                                         
    SP5:                                                                                                                                                            

    ExUns: 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
    SP1:                                      -           -                                                     -                     
    SP2:                                      -           -                                                     -                     
    SP3:                                      -           -                                                     -                     
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for NVL

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

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

    NVL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497867

    UniProtKB/Swiss-Prot: NVL_HUMAN, O15381
    Tissue specificity: Widely expressed. Highest level of expression in heart, placenta, skeletal muscle, pancreas
    and retina

        Custom PCR Arrays for NVL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NVL

    (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 NVL gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nvl1 , 5 nuclear VCP-like1, 5 86.67(n)1
    87.95(a)1
      1 (84.53 cM)5
    674591  NM_026171.11  NP_080447.11 
     1810934235 
    chicken
    (Gallus gallus)
    Aves NVL1 nuclear VCP-like 73.02(n)
    76.88(a)
      421326  NM_001079576.2  NP_001073044.2 
    lizard
    (Anolis carolinensis)
    Reptilia NVL6
    nuclear VCP-like
    71(a)
    1 ↔ 1
    1(252721906-252776769)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC529792 hypothetical protein MGC52979 75(n)    BC044980.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC044464.12   -- 74.68(n)    BC044464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta smid1 , 3 adenosinetriphosphatase3
    smallminded1
    55(a)3
    52.47(n)1
    47.78(a)1
      3 65F103
    388241  NM_001169900.21  NP_001163371.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mac-11 , 3 mac-11 50(a)3
    57.25(n)1
    55.44(a)1
      II(13311493-13320802)3
    1749741  NM_064413.71  NP_496814.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RIX7(YLL034C)4
    RIX71
    Putative ATPase of the AAA family, required for export more4
    RIX71
    54.17(n)1
    52.53(a)1
      12(73146-70633)4
    8506251, 4  NP_013066.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CDC48C1 CDC48C 54.98(n)
    48.66(a)
      821105  NM_111027.3  NP_186810.2 
    rice
    (Oryza sativa)
    Liliopsida Os06g01094001 Os06g0109400 54.32(n)
    48.38(a)
      4339880  NM_001063111.1  NP_001056576.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NVL gene
    Selected SIMAP similar genes for NVL using alignment to 12 protein entries:     NVL_HUMAN (see all proteins) (see all similar genes):
    CNOT2    SENP7    ECD    DKFZp666D103    PSMC6    DKFZp434E0418
    VCP    ATAD2B    DKFZp667C165    GNPTAB    PSMC5    PSMC4
    SPATA5    PSMC2    PSMC1    ATAD1    SPATA5L1    BCS1L

    NVL 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 NVL (see all 2118)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57813581,2
    C--224421869(+) AATAC-/AAAACA 4 -- int11Minor allele frequency- A:0.00NA 2
    rs354353561,2
    C--224423635(+) AAAAAA/-GAAAA 4 -- int11Minor allele frequency- -:0.00NA 2
    rs359364271,2
    C--224425888(+) CACCAC/-CACAC 4 -- int11Minor allele frequency- -:0.50CSA 2
    rs349962111,2
    C--224429558(+) AAAAAA/-TAAAA 4 -- int11Minor allele frequency- -:0.00NA 2
    rs1130312341,2
    C,F--224441981(+) GTAGAG/AACGGG 4 -- int11Minor allele frequency- A:0.50NA 2
    rs360655111,2
    C--224442093(+) TGGCA-/TTTTTT 4 -- int11Minor allele frequency- T:0.00NA 2
    rs711684001,2
    C--224442274(-) AATACA/-AAAAA 4 -- int11Minor allele frequency- -:0.00NA 2
    rs341202781,2
    C--224442884(+) GTAGG-/TTTTTT 4 -- int10--------
    rs1436689821,2
    C--224445215(+) TTGTT-/TGTC  
            
    TGTTT
    4 -- int10--------
    rs1467312991,2
    C--224452440(+) AACGT-/TTATTATT 4 -- int10--------

    HapMap Linkage Disequilibrium report for NVL (224415036 - 224518089 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NVL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2328653CNV Deletion18987734
    esv2723739CNV Deletion23290073
    esv2723750CNV Deletion23290073
    nsv8868CNV Loss18304495
    nsv873223CNV Gain21882294
    nsv469889CNV Complex16826518

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NVL
    DNA2.0 Custom Variant and Variant Library Synthesis for NVL

    (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: 602426    OMIM disorders: --

    4 diseases for NVL:    
    About MalaCards
    major depressive disorder    tuberculosis    hypertension    malaria


    NVL for disorders           About GeneDecksing

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

    Export disorders for NVL 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 NVL gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with NVL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NVL: a new member of the AAA family of ATPases localized to the nucleus. (PubMed id 9286697)1, 2, 3, 9 Germain-Lee E.L.... Valle D. (Genomics 1997)
    2. Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. (PubMed id 21042317)1, 4 Wray N.R....Sullivan P.F. (Mol. Psychiatry 2012)
    3. Structure and function of the N-terminal nucleolin binding domain of nuclear valosin-containing protein-like 2 (NVL2) harboring a nucleolar localization signal. (PubMed id 21474449)1, 2 Fujiwara Y....Hiroaki H. (J. Biol. Chem. 2011)
    4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    8. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)
    9. The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly. (PubMed id 22226966)1 Her J. and Chung I.K. (Biochem. Biophys. Res. Commun. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 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: 4931 HGNC: 8070 AceView: NVL Ensembl:ENSG00000143748 euGenes: HUgn4931
    ECgene: NVL Kegg: 4931 H-InvDB: NVL

    (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 NVL 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 NVL gene:
    Search GeneIP for patents involving NVL

    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
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