Human Gene NVL (ENST00000281701.11_11) from GENCODE V47lift37
  Description: nuclear VCP like, transcript variant 1 (from RefSeq NM_002533.4)
Gencode Transcript: ENST00000281701.11_11
Gencode Gene: ENSG00000143748.18_14
Transcript (Including UTRs)
   Position: hg19 chr1:224,415,047-224,517,874 Size: 102,828 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 CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:224,415,047-224,517,874)mRNA (may differ from genome)Protein (856 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
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


-  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

+  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 -14.2045-0.316 Picture PostScript Text
3' UTR -71.40281-0.254 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 P-loop domain
PF07724 - AAA domain (Cdc48 subfamily)
PF07728 - AAA domain (dynein-related subfamily)
PF16725 - Nucleolin binding domain
PF17862 - AAA+ lid domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

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 orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
Gene SorterGene Sorter  Gene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  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: B4DMC4, B4DP98, ENST00000281701.1, ENST00000281701.10, ENST00000281701.2, ENST00000281701.3, ENST00000281701.4, ENST00000281701.5, ENST00000281701.6, ENST00000281701.7, ENST00000281701.8, ENST00000281701.9, NM_002533, NVL , NVL2 , NVL_HUMAN, O15381, Q96EM7, uc317jxa.1, uc317jxa.2
UCSC ID: ENST00000281701.11_11
RefSeq Accession: NM_002533.4
Protein: O15381 (aka NVL_HUMAN)

-  Gene Model Information
  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.