Human Gene NVL (ENST00000391875.6) from GENCODE V41
  Description: Homo sapiens nuclear VCP like (NVL), transcript variant 2, mRNA. (from RefSeq NM_206840)
RefSeq Summary (NM_206840): 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].
Gencode Transcript: ENST00000391875.6
Gencode Gene: ENSG00000143748.18
Transcript (Including UTRs)
   Position: hg38 chr1:224,227,334-224,330,170 Size: 102,837 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg38 chr1:224,227,626-224,311,823 Size: 84,198 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:224,227,334-224,330,170)mRNA (may differ from genome)Protein (750 aa)
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PubMedUniProtKBWikipedia

-  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.

-  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

-  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 -56.40287-0.197 Picture PostScript Text
3' UTR -73.00292-0.250 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)

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


ModBase Predicted Comparative 3D Structure on O15381
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
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.
AK297396 - Homo sapiens cDNA FLJ55724 complete cds, highly similar to Nuclear valosin-containing protein-like.
AK297070 - Homo sapiens cDNA FLJ56105 complete cds, highly similar to Nuclear valosin-containing protein-like.
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.
JD022803 - Sequence 3827 from Patent EP1572962.
JD556589 - Sequence 537613 from Patent EP1572962.
JD155012 - Sequence 136036 from Patent EP1572962.
JD465762 - Sequence 446786 from Patent EP1572962.
JD320775 - Sequence 301799 from Patent EP1572962.
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: ENST00000391875.1, ENST00000391875.2, ENST00000391875.3, ENST00000391875.4, ENST00000391875.5, NM_206840, NVL_HUMAN, O15381, Q96EM7, uc001hol.1, uc001hol.2, uc001hol.3, uc001hol.4
UCSC ID: ENST00000391875.6
RefSeq Accession: NM_206840
Protein: O15381 (aka NVL_HUMAN)
CCDS: CCDS1542.1

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