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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. Diseases associated with NVL include Amyotrophic Lateral Sclerosis 1. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for NVL Gene

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

Genomics for NVL Gene

GeneHancer (GH) Regulatory Elements for NVL Gene

Promoters and enhancers for NVL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I224328 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.9 +0.4 420 3.1 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 NVL WDR26 CICP5 CNIH4 GC01M224258
GH01I223710 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 84.6 +614.1 614063 11.8 ZFP64 FEZF1 YY1 ZNF213 ZNF143 ZNF548 SP3 ZFP41 MEF2D ZNF610 CAPN2 CICP5 NVL LOC100287497 TP53BP2 WDR26 CAPN8 GTF2IP20 FBXO28 RNU6-1248P
GH01I224929 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 67.5 -599.7 -599734 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 DNAH14 LOC105373109 CICP5 NVL LOC100287497 ENAH GC01M225093
GH01I223844 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 51.6 +484.6 484634 3.4 CLOCK FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D ZNF610 TP53BP2 GC01P223846 GC01P223847 CICP5 NVL LOC100287497 CAPN2 FBXO28 WDR26 CNIH4
GH01I224615 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 54.1 -287.4 -287424 4.4 CLOCK ARNT ZNF133 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 ZNF302 LOC102723817 CNIH3 NVL CICP5 LOC100287497 FBXO28 WDR26 LOC105373106 ENSG00000234247
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NVL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NVL gene promoter:

Genomic Locations for NVL Gene

Genomic Locations for NVL Gene
chr1:224,227,334-224,330,387
(GRCh38/hg38)
Size:
103,054 bases
Orientation:
Minus strand
chr1:224,415,036-224,518,089
(GRCh37/hg19)

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 isoforms=2, 3, 4, 5759

No data available for DME Specific Peptides for NVL Gene

Domains & Families for NVL Gene

Gene Families for NVL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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).

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,IDA 22658674
GO:0005515 protein binding IPI 15469983
GO:0005524 ATP binding IMP,TAS 22226966
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

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 2
mitochondrion 2

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:0005634 nucleus TAS,IDA 16782053
GO:0005654 nucleoplasm IDA,IEA 15469983
GO:0005697 telomerase holoenzyme complex IDA 22226966
GO:0005730 nucleolus IEA,IDA 15469983
GO:0016020 membrane HDA,IDA 19946888
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

Drugs & Compounds for NVL Gene

No Compound Related Data Available

Transcripts for NVL Gene

Unigene Clusters for NVL Gene

Nuclear VCP-like:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NVL

Expression for NVL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, 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.

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 33
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia NVL 33 34
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Nvl 33 16 34
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Nvl 33
  • 84.76 (n)
dog
(Canis familiaris)
Mammalia NVL 33 34
  • 84.32 (n)
oppossum
(Monodelphis domestica)
Mammalia NVL 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NVL 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves NVL 33 34
  • 73.02 (n)
lizard
(Anolis carolinensis)
Reptilia NVL 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nvl 33
  • 68.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52979 33
zebrafish
(Danio rerio)
Actinopterygii nvl 33 34
  • 63.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006205 33
  • 55.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta smid 35 33 34
  • 52.47 (n)
worm
(Caenorhabditis elegans)
Secernentea mac-1 35 33 34
  • 57.25 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00837g 33
  • 55.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR188W 33
  • 54.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIX7 33 34 36
  • 54.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CDC48C 33
  • 54.98 (n)
rice
(Oryza sativa)
Liliopsida Os06g0109400 33
  • 54.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16E9.10c 33
  • 55.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9449 33
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 Variation AA Info Type
rs1000059545 -- 224,305,818(-) C/G intron_variant
rs1000100799 -- 224,260,610(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000145440 -- 224,277,813(-) C/T intron_variant
rs1000176736 -- 224,294,173(-) A/G intron_variant
rs1000208753 -- 224,237,257(-) C/T genic_downstream_transcript_variant, 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)

Additional Variant Information 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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • als1
- 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 22 58
  2. Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. (PMID: 21042317) Wray NR … Sullivan PF (Molecular psychiatry 2012) 3 44 58
  3. The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly. (PMID: 22226966) Her J … Chung IK (Biochemical and biophysical research communications 2012) 3 4 58
  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 (The Journal of biological chemistry 2011) 3 4 58
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58

Products for NVL Gene

Sources for NVL Gene

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