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 ... See more...

Aliases for NVL Gene

Aliases for NVL Gene

  • Nuclear VCP Like 2 3 5
  • Nuclear Valosin-Containing Protein-Like 2 3 4
  • Nuclear VCP-Like Protein 2 4
  • NVL2 3 4
  • NVLp 3 4

External Ids for NVL Gene

Previous GeneCards Identifiers for NVL Gene

  • GC01M222845
  • GC01M220232
  • GC01M220822
  • GC01M221389
  • GC01M220721
  • GC01M222482
  • GC01M224416
  • GC01M194934

Summaries for NVL Gene

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 Retinitis Pigmentosa 14 and Chromosome 1Q41-Q42 Deletion Syndrome. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include kinase activity. An important paralog of this gene is VCP.

UniProtKB/Swiss-Prot Summary for NVL Gene

  • Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). Involved in both early and late stages of the pre-rRNA processing pathways (PubMed:26166824). Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus (PubMed:15469983, PubMed:16782053, PubMed:29107693, PubMed:26456651). Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity (PubMed:29107693, PubMed:26456651, PubMed:28416111).

Gene Wiki entry for NVL Gene

Additional gene information for NVL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NVL Gene

Genomics for NVL Gene

GeneHancer (GH) Regulatory Elements for NVL Gene

Promoters and enhancers for NVL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NVL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NVL

Top Transcription factor binding sites by QIAGEN in the NVL gene promoter:
  • AREB6
  • LCR-F1
  • Pbx1a

Genomic Locations for NVL Gene

Genomic Locations for NVL Gene
chr1:224,227,334-224,330,201
(GRCh38/hg38)
Size:
102,868 bases
Orientation:
Minus strand
chr1:224,415,036-224,518,089
(GRCh37/hg19)
Size:
103,054 bases
Orientation:
Minus strand

Genomic View for NVL Gene

Genes around NVL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NVL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NVL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NVL Gene

Proteins for NVL Gene

  • Protein details for NVL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15381-NVL_HUMAN
    Recommended name:
    Nuclear valosin-containing protein-like
    Protein Accession:
    O15381
    Secondary Accessions:
    • B4DMC4
    • B4DP98
    • Q96EM7

    Protein attributes for NVL Gene

    Size:
    856 amino acids
    Molecular mass:
    95051 Da
    Quaternary structure:
    • Interacts with NCL/nucleolin (PubMed:21474449). Isoform 1 and isoform 2 interact with TERT and isoform 1 exhibits a higher binding affinity for TERT compared to isoform 2 (PubMed:22226966). Isoform 1 interacts with MTREX in an ATP-dependent manner; the interaction is required to associate NVL with nuclear RNA exosome (PubMed:26166824, PubMed:31358741, PubMed:16782053). Isoform 1 interacts with RPL5 in an ATP-dependent manner (PubMed:15469983). Interacts with WDR74 (through WDR repeats); the interaction is independent of RNA or pre-60S ribosome particles (PubMed:28416111).

    Three dimensional structures from OCA and Proteopedia for NVL Gene

    Alternative splice isoforms for NVL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NVL Gene

Post-translational modifications for NVL Gene

  • Ubiquitination at Lys759
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NVL Gene

Domains & Families for NVL Gene

Gene Families for NVL Gene

Suggested Antigen Peptide Sequences for NVL Gene

GenScript: Design optimal peptide antigens:
  • NVL protein (A0JLP9_HUMAN)
  • cDNA FLJ55724, highly similar to Nuclear valosin-containing protein-like (B4DMC4_HUMAN)
  • cDNA FLJ56121, highly similar to Nuclear valosin-containing protein-like (B4DP98_HUMAN)
  • Nuclear valosin-containing protein-like (NVL_HUMAN)
  • Nuclear VCP-like protein (Q96PA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15381

UniProtKB/Swiss-Prot:

NVL_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with NVL: view

Function for NVL Gene

Molecular function for NVL Gene

UniProtKB/Swiss-Prot Function:
Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). Involved in both early and late stages of the pre-rRNA processing pathways (PubMed:26166824). Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus (PubMed:15469983, PubMed:16782053, PubMed:29107693, PubMed:26456651). Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity (PubMed:29107693, PubMed:26456651, PubMed:28416111).
GENATLAS Biochemistry:
nuclear valosin containing protein like 1,with two alternatively spliced forms NVL1,83kDa,not phosphorylated,NVL2 phosphorylated,95-110kDa

Phenotypes From GWAS Catalog for NVL Gene

Gene Ontology (GO) - Molecular Function for NVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 15469983
GO:0005524 ATP binding IMP,TAS 22226966
GO:0016887 ATPase activity IBA 21873635
GO:1990275 preribosome binding IBA,IDA 16782053
genes like me logo Genes that share ontologies with NVL: view
genes like me logo Genes that share phenotypes with NVL: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NVL Gene

Localization for NVL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NVL Gene

[Isoform 2]: Nucleus, nucleoplasm.
[Isoform 1]: Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Expressed predominantly in the nucleolus. Associates with pre-ribosomal particles in the nucleus. {ECO:0000269 PubMed:16782053}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NVL gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 colocalizes_with nuclear exosome (RNase complex) IDA 26166824
GO:0005634 nucleus TAS,IDA 16782053
GO:0005654 nucleoplasm IEA,IDA 15469983
GO:0005697 telomerase holoenzyme complex IDA 22226966
GO:0005730 colocalizes_with nucleolus IEA,IDA 26456651
genes like me logo Genes that share ontologies with NVL: view

Pathways & Interactions for NVL Gene

PathCards logo

SuperPathways for NVL Gene

genes like me logo Genes that share pathways with NVL: view

Pathways by source for NVL Gene

1 KEGG pathway for NVL Gene

Gene Ontology (GO) - Biological Process for NVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IDA 29107693
GO:0032092 positive regulation of protein binding IDA 29107693
GO:0042254 ribosome biogenesis IMP,IBA 15469983
GO:0042273 ribosomal large subunit biogenesis IMP 26456651
GO:0051973 positive regulation of telomerase activity IMP 22226966
genes like me logo Genes that share ontologies with NVL: view

No data available for SIGNOR curated interactions for NVL Gene

Drugs & Compounds for NVL Gene

No Compound Related Data Available

Transcripts for NVL Gene

mRNA/cDNA for NVL Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NVL Gene

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:
SP6: - - -
SP7: - - - -
SP8: - - - -
SP9: -
SP10: - - - - -
SP11: - - - -
SP12: - - - - -
SP13: - - - -
SP14: - - - -
SP15:
SP16:
SP17:

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -

Relevant External Links for NVL Gene

GeneLoc Exon Structure for
NVL

Expression for NVL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NVL Gene

Protein differential expression in normal tissues from HIPED for NVL Gene

This gene is overexpressed in Lung (46.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NVL Gene



Protein tissue co-expression partners for NVL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NVL

SOURCE GeneReport for Unigene cluster for NVL Gene:

Hs.497867

mRNA Expression by UniProt/SwissProt for NVL Gene:

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

Evidence on tissue expression from TISSUES for NVL Gene

  • Nervous system(4.7)
  • Kidney(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with NVL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NVL Gene

Orthologs for NVL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NVL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NVL 30
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia NVL 31 30
  • 89.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nvl 17 31 30
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Nvl 30
  • 84.76 (n)
dog
(Canis familiaris)
Mammalia NVL 31 30
  • 84.32 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NVL 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NVL 31
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves NVL 31 30
  • 73.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NVL 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nvl 30
  • 68.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52979 30
zebrafish
(Danio rerio)
Actinopterygii nvl 31 30
  • 63.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006205 30
  • 55.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta smid 31 32 30
  • 52.47 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mac-1 31 32 30
  • 57.25 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00837g 30
  • 55.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR188W 30
  • 54.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIX7 33 31 30
  • 54.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CDC48C 30
  • 54.98 (n)
rice
(Oryza sativa)
Liliopsida Os06g0109400 30
  • 54.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToOne
Cin.9449 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16E9.10c 30
  • 55.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9449 30
Species where no ortholog for NVL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NVL Gene

ENSEMBL:
Gene Tree for NVL (if available)
TreeFam:
Gene Tree for NVL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NVL: view image

Paralogs for NVL Gene

Paralogs for NVL Gene

(21) SIMAP similar genes for NVL Gene using alignment to 12 proteins:

  • NVL_HUMAN
  • A0JLP9_HUMAN
  • C9J6P7_HUMAN
  • C9JP83_HUMAN
  • E7ERY0_HUMAN
  • E7EWK7_HUMAN
  • E9PGD8_HUMAN
  • E9PH71_HUMAN
  • F8W938_HUMAN
  • F8WF01_HUMAN
  • H0Y8B6_HUMAN
  • Q96PA2_HUMAN
genes like me logo Genes that share paralogs with NVL: view

Variants for NVL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NVL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12084919 - p.Val295Ile
rs34631151 - p.Val404Ile
VAR_015890 - p.Cys359Gly

Additional dbSNP identifiers (rs#s) for NVL Gene

Structural Variations from Database of Genomic Variants (DGV) for NVL Gene

Variant ID Type Subtype PubMed ID
esv2328653 CNV deletion 18987734
esv2723739 CNV deletion 23290073
esv2723750 CNV deletion 23290073
esv3588970 CNV loss 21293372
nsv1145404 CNV deletion 24896259
nsv469889 CNV gain 16826518
nsv8868 CNV loss 18304495
nsv945322 CNV duplication 23825009

Variation tolerance for NVL Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NVL Gene

Human Gene Mutation Database (HGMD)
NVL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NVL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NVL Gene

Disorders for NVL Gene

MalaCards: The human disease database

(4) MalaCards diseases for NVL Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 14
  • rp14
chromosome 1q41-q42 deletion syndrome
  • holoprosencephaly 10, included; hpe10, included
pelger-huet anomaly
  • pha
charcot-marie-tooth disease, axonal, type 2e
  • cmt2e
- elite association - COSMIC cancer census association via MalaCards
Search NVL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NVL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NVL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NVL Gene

Publications for NVL Gene

  1. NVL: a new member of the AAA family of ATPases localized to the nucleus. (PMID: 9286697) Germain-Lee EL … Valle D (Genomics 1997) 2 3 4 23 54
  2. The MTR4 helicase recruits nuclear adaptors of the human RNA exosome using distinct arch-interacting motifs. (PMID: 31358741) Lingaraju M … Conti E (Nature communications 2019) 3 4 54
  3. WDR74 participates in an early cleavage of the pre-rRNA processing pathway in cooperation with the nucleolar AAA-ATPase NVL2. (PMID: 29107693) Hiraishi N … Nagahama M (Biochemical and biophysical research communications 2018) 3 4 54
  4. Structural Analysis Reveals Features of Ribosome Assembly Factor Nsa1/WDR74 Important for Localization and Interaction with Rix7/NVL2. (PMID: 28416111) Lo YH … Stanley RE (Structure (London, England : 1993) 2017) 3 4 54
  5. NVL2, a nucleolar AAA-ATPase, is associated with the nuclear exosome and is involved in pre-rRNA processing. (PMID: 26166824) Yoshikatsu Y … Nagahama M (Biochemical and biophysical research communications 2015) 3 4 54

Products for NVL Gene