Human Gene NVL (uc001hok.3)
  Description: Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.
RefSeq Summary (NM_002533): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:224,415,036-224,517,891 Size: 102,856 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr1:224,415,328-224,517,829 Size: 102,502 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:224,415,036-224,517,891)mRNA (may differ from genome)Protein (856 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NVL_HUMAN
DESCRIPTION: RecName: Full=Nuclear valosin-containing protein-like; Short=NVLp; Short=Nuclear VCP-like protein;
SUBUNIT: Interacts with NCL/nucleolin.
SUBCELLULAR LOCATION: Nucleus, nucleolus.
TISSUE SPECIFICITY: Widely expressed. Highest level of expression in heart, placenta, skeletal muscle, pancreas and retina.
SIMILARITY: Belongs to the AAA ATPase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NVL
CDC HuGE Published Literature: NVL
Positive Disease Associations: Depressive Disorder, Major , Heart Failure
Related Studies:
  1. Depressive Disorder, Major
    N R Wray et al. Molecular psychiatry 2012, Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned., Molecular psychiatry. [PubMed 21042317]
  2. Heart Failure
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: NVL
Diseases sorted by gene-association score: amyotrophic lateral sclerosis 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.31 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 233.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.6062-0.332 Picture PostScript Text
3' UTR -79.30292-0.272 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR003959 - ATPase_AAA_core
IPR003960 - ATPase_AAA_CS

Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF05496 - Holliday junction DNA helicase ruvB N-terminus
PF07724 - AAA domain (Cdc48 subfamily)
PF07728 - AAA domain (dynein-related subfamily)
PF16725 - Nucleolin binding domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2X8A - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O15381
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:1990275 preribosome binding

Biological Process:
GO:0042254 ribosome biogenesis
GO:0051973 positive regulation of telomerase activity

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005697 telomerase holoenzyme complex
GO:0005730 nucleolus
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  U68140 - Homo sapiens nuclear VCP-like protein NVLp.2 (NVL.2) mRNA, complete cds.
U78772 - Homo sapiens nuclear VCP-like protein NVLp.1 (NVL.1) mRNA, complete cds.
BC012105 - Homo sapiens nuclear VCP-like, mRNA (cDNA clone MGC:20090 IMAGE:4636004), complete cds.
AK298244 - Homo sapiens cDNA FLJ56121 complete cds, highly similar to Nuclear valosin-containing protein-like.
JD022803 - Sequence 3827 from Patent EP1572962.
JD556589 - Sequence 537613 from Patent EP1572962.
AK297396 - Homo sapiens cDNA FLJ55724 complete cds, highly similar to Nuclear valosin-containing protein-like.
JD155012 - Sequence 136036 from Patent EP1572962.
AK297070 - Homo sapiens cDNA FLJ56105 complete cds, highly similar to Nuclear valosin-containing protein-like.
JD465762 - Sequence 446786 from Patent EP1572962.
JD320775 - Sequence 301799 from Patent EP1572962.
JF432850 - Synthetic construct Homo sapiens clone IMAGE:100074172 nuclear VCP-like (NVL) gene, encodes complete protein.
KJ901612 - Synthetic construct Homo sapiens clone ccsbBroadEn_11006 NVL gene, encodes complete protein.
AK298826 - Homo sapiens cDNA FLJ59213 complete cds, highly similar to Nuclear valosin-containing protein-like.
BC005897 - Homo sapiens nuclear VCP-like, mRNA (cDNA clone IMAGE:4249184), partial cds.
AK293923 - Homo sapiens cDNA FLJ59858 complete cds, moderately similar to Nuclear valosin-containing protein-like.
AF401208 - Homo sapiens nuclear VCP-like protein (NVL) mRNA, partial cds.
JD074233 - Sequence 55257 from Patent EP1572962.
JD328705 - Sequence 309729 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_002533, NP_002524, NVL_HUMAN, O15381, Q96EM7
UCSC ID: uc001hok.3
RefSeq Accession: NM_002533
Protein: O15381 (aka NVL_HUMAN)
CCDS: CCDS1541.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002533.3
exon count: 23CDS single in 3' UTR: no RNA size: 2940
ORF size: 2571CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5342.00frame shift in genome: no % Coverage: 99.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.