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Aliases for NVL Gene

Aliases for NVL Gene

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

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. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include poly(A) RNA binding and kinase activity.

UniProtKB/Swiss-Prot for NVL Gene

  • Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). May play a role in 60S ribosomal subunit biogenesis (PubMed:15469983, PubMed:16782053).

Gene Wiki entry for NVL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NVL Gene

Genomics for NVL Gene

Regulatory Elements for NVL Gene

Enhancers for NVL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F224263 0.7 ENCODE 17.5 +63.4 63376 6.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 BRCA1 ZNF2 ZNF121 KLF7 FOS CNIH4 NVL CICP5 LOC101927164 LOC101927143 DEGS1 MIR320B2 ENSG00000229742
GH01F224272 0.2 ENCODE 17.5 +54.4 54375 6.1 TBP PKNOX1 FEZF1 BRCA1 ZNF2 RFX5 ZNF121 ZNF366 SCRT2 RCOR1 NVL CICP5 LOC101927164 LOC101927143 CNIH4 DEGS1 MIR320B2 ENSG00000229742
GH01F224376 1.2 Ensembl ENCODE 16.9 -48.5 -48508 5.0 HDGF PKNOX1 TBL1XR1 FEZF1 ZNF2 ZNF121 EGR1 FOS CREM EGR2 CNIH4 NVL WDR26 CNIH3 GC01P224379 MIR4742
GH01F224356 1.2 FANTOM5 ENCODE 16.5 -27.0 -27021 2.4 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ZNF143 CNIH4 NVL CNIH3 WDR26 LOC101927164 LOC101927143 CAPN2 DEGS1 FBXO28 GC01P224379
GH01F224261 0.2 ENCODE 16.5 +67.6 67639 1.5 HDAC1 TBL1XR1 ZNF837 BACH1 FOXK2 NCOR1 TRIM24 HES1 SMARCE1 SMARCA5 NVL GTF2IP20 MIR320B2 ENSG00000229742
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NVL on UCSC Golden Path with GeneCards custom track

Promoters for NVL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000289497 187 2401 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for NVL Gene

Chromosome:
1
Start:
224,227,334 bp from pter
End:
224,330,387 bp from pter
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. Isoform 1 and isoform 2 interact with TERT and isoform 1 exhibits a higher binding affinity for TERT compared to isoform 2. Isoform 1 interacts with SKIV2L2 in an ATP-dependent manner. Isoform 1 interacts with RPL5 in an ATP-dependent manner.

    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 Lys 759
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NVL Gene

Domains & Families for NVL Gene

Gene Families for NVL Gene

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

GENATLAS Biochemistry:
nuclear valosin containing protein like 1,with two alternatively spliced forms NVL1,83kDa,not phosphorylated,NVL2 phosphorylated,95-110kDa
UniProtKB/Swiss-Prot Function:
Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). May play a role in 60S ribosomal subunit biogenesis (PubMed:15469983, PubMed:16782053).

Gene Ontology (GO) - Molecular Function for NVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15469983
GO:0005524 ATP binding IMP 22226966
GO:0044822 poly(A) RNA binding IDA 22658674
GO:1990275 preribosome binding 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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for NVL Gene COMPARTMENTS Subcellular localization image for NVL gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
plasma membrane 2

Gene Ontology (GO) - Cellular Components for NVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16782053
GO:0005654 nucleoplasm IEA,IDA 15469983
GO:0005697 telomerase holoenzyme complex IDA 22226966
GO:0005730 nucleolus IEA,IDA 15469983
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with NVL: view

Pathways & Interactions 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:0042254 ribosome biogenesis IMP 15469983
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

Transcripts for NVL Gene

Unigene Clusters for NVL Gene

Nuclear VCP-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
NVL

Expression for NVL Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for NVL Gene



Protein tissue co-expression partners for NVL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NVL Gene:

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.
genes like me logo Genes that share expression patterns with NVL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 34
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia NVL 34 35
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Nvl 34 16 35
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Nvl 34
  • 84.76 (n)
dog
(Canis familiaris)
Mammalia NVL 34 35
  • 84.32 (n)
oppossum
(Monodelphis domestica)
Mammalia NVL 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NVL 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves NVL 34 35
  • 73.02 (n)
lizard
(Anolis carolinensis)
Reptilia NVL 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nvl 34
  • 68.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52979 34
zebrafish
(Danio rerio)
Actinopterygii nvl 34 35
  • 63.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006205 34
  • 55.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta smid 36 34 35
  • 52.47 (n)
worm
(Caenorhabditis elegans)
Secernentea mac-1 36 34 35
  • 57.25 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00837g 34
  • 55.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR188W 34
  • 54.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIX7 34 35 37
  • 54.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CDC48C 34
  • 54.98 (n)
rice
(Oryza sativa)
Liliopsida Os06g0109400 34
  • 54.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16E9.10c 34
  • 55.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9449 34
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)

Paralogs for NVL Gene

No data available for Paralogs for NVL Gene

Variants for NVL Gene

Sequence variations from dbSNP and Humsavar for NVL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10158063 -- 224,252,104(+) CAGAT(C/G)TCTTG intron-variant
rs10158281 -- 224,253,749(+) AAAAA(A/G)AAAAG intron-variant
rs10551099 -- 224,321,756(+) ACCTC(-/AA)AAAAA intron-variant
rs10579022 -- 224,321,771(+) aaaaa(-/AA)CTGAA intron-variant
rs10642577 -- 224,249,150(+) TTTTT(-/T/TT/TTT)GAGAG intron-variant

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)

Relevant External Links for NVL Gene

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

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

Disorders for NVL Gene

Relevant External Links for NVL

Genetic Association Database (GAD)
NVL
Human Genome Epidemiology (HuGE) Navigator
NVL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NVL

No disorders were found for NVL Gene.

No data available for MalaCards , 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 E.L. … Valle D. (Genomics 1997) 2 3 4 22 64
  2. Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. (PMID: 21042317) Wray N.R. … Sullivan P.F. (Mol. Psychiatry 2012) 3 46 64
  3. The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly. (PMID: 22226966) Her J. … Chung I.K. (Biochem. Biophys. Res. Commun. 2012) 3 4 64
  4. Structure and function of the N-terminal nucleolin binding domain of nuclear valosin-containing protein-like 2 (NVL2) harboring a nucleolar localization signal. (PMID: 21474449) Fujiwara Y. … Hiroaki H. (J. Biol. Chem. 2011) 3 4 64
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64

Products for NVL Gene

Sources for NVL Gene

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