NVL - nuclear VCP like Gene

Also Known as NVL2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4931

About NVL

Cytogenetic location: 1q42.11 Genomic coordinates (GRCh38): 1:224,227,345-224,330,172 (from NCBI)

This gene has 24 transcripts (splice variants), 207 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 7.5), lymph node (RPKM 5.1) and 25 other tissues.

Summary

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]

NVL Products (4)

mRNA Protein Name
NM_001243146.2 NP_001230075.1 nuclear valosin-containing protein-like isoform 3
NM_001243147.2 NP_001230076.1 nuclear valosin-containing protein-like isoform 4
NM_002533.4 NP_002524.2 nuclear valosin-containing protein-like isoform 1
NM_206840.3 NP_996671.1 nuclear valosin-containing protein-like isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ATP binding IMP
IMP: Inferred from mutant phenotype
22226966 GOA
enables preribosome binding IDA
IDA: Inferred from direct assay
16782053 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15469983 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of protein binding IDA
IDA: Inferred from direct assay
29107693 GOA
acts upstream of positive regulation of telomere maintenance IMP
IMP: Inferred from mutant phenotype
22226966 GOA
involved in rRNA processing IDA
IDA: Inferred from direct assay
29107693 GOA
involved in regulation of protein localization to nucleolus IDA
IDA: Inferred from direct assay
29107693 GOA
involved in ribosomal large subunit biogenesis IDA
IDA: Inferred from direct assay
26166824 GOA
involved in ribosomal large subunit biogenesis IMP
IMP: Inferred from mutant phenotype
26456651 GOA
involved in ribosome biogenesis IMP
IMP: Inferred from mutant phenotype
15469983 GOA
involved in telomerase holoenzyme complex assembly IMP
IMP: Inferred from mutant phenotype
22226966 GOA
Cellular Component GO Annotation Evidence References Source
part of nuclear exosome (RNase complex) IDA
IDA: Inferred from direct assay
26166824 GOA
colocalizes with nucleolus IDA
IDA: Inferred from direct assay
26456651 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
15469983 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
15469983 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16782053 GOA
part of telomerase holoenzyme complex IDA
IDA: Inferred from direct assay
22226966 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NVL Protein Structure

AAA

AAA: ATPase family associated with various cellular activities (AAA) (301 - 432)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (618 - 747)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 856 a.a.
Protein Preferred Names Protein Names

nuclear valosin-containing protein-like

  • NVLp

Related Diseases

Diseases Alias
Epilepsy, Juvenile Absence 1

  • Epilepsy, Juvenile Absence, Susceptibility To, 1

  • EJA1

  • JAE1

  • Juvenile Absence Epilepsy 1

  • Susceptibility To Juvenile Absence Epilepsy 1

  • Epilepsy, Juvenile Absence, Susceptibility To, Type 1

  • Absence Epilepsy
Chromosome 1q41-Q42 Deletion Syndrome

  • 1q41-Q42 Microdeletion Syndrome

  • 1q41q42 Microdeletion Syndrome

  • Holoprosencephaly 10, Included

  • Hpe10, Included

  • 1q41-Q42 Deletion Syndrome

  • Deletion 1q41-Q42

  • Monosomy 1q41-Q42

  • Del(1)(Q41q42)

  • Monosomy 1q41q42

  • Chromosome Deletion Syndrome 1q41-Q42

  • Holoprosencephaly 10
Greenberg Dysplasia

  • Hem Dysplasia

  • Greenberg Skeletal Dysplasia

  • Hem Skeletal Dysplasia

  • GRBGD

  • Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

  • Moth-Eaten Skeletal Dysplasia

  • Chondrodystrophy, Hydropic And Prenatally Lethal Type

  • Hydrops-Ectopic Calcification-Motheaten Syndrome

  • Skeletal Dysplasia, Greenberg Type

  • Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

  • Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

  • Hem

  • Hem/Greenberg Dysplasia

  • Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Phase
HY-156467 Neladalkib 99.90% Phase 3
HY-152292 Zidesamtinib Inhibitor 99.78% Phase 2

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-156467A Neladalkib TFA 99.70% Unkown
HY-175783 MM927 Inducer 99.17% Unkown
HY-156467S Neladalkib-d3 / Unkown
HY-RS09707 NVL Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus NVL MGD MGI:1914709
Rattus norvegicus NVL RGD RGD:1311270
Macaca mulatta NVL VGNC VGNC:75564
Felis catus NVL VGNC VGNC:68602
Bos taurus NVL VGNC VGNC:32372
Canis familiaris NVL VGNC VGNC:44068
Others NVL NCBI