• Gene id: 4931

Gene Summary

• Gene Symbol: NVL   Gene   UCSC   Ensembl
• Aliases: NVL2
• Gene name: nuclear VCP like
• Alternate names: nuclear valosin-containing protein-like, NVLp,
• Gene location: 1q42.11 (224330188: 224227333)     Exons: 28     NC_000001.11
• Gene summary(Entrez): 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, h
• OMIM: 602180

Protein Summary

• Protein general information: O15381  
  • Name: Nuclear valosin containing protein like (NVLp) (Nuclear VCP like protein)
  • Length: 856  
  • Mass: 95051
  • Tissue specificity: Widely expressed. Highest level of expression in heart, placenta, skeletal muscle, pancreas and retina. {ECO
• Sequence:

  MKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNL
  TELEDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHMNSSLLSLYRKGNPDSVSNTPEMEQRETTSST
  PRISSKTGSIPLKTPAKDSEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKDSSLLESDMKRKGKLKN
  KGSKRKKEDLQEVDGEIEAVLQKKAKARGLEFQISNVKFEDVGGNDMTLKEVCKMLIHMRHPEVYHHLGVVPPRG
  VLLHGPPGCGKTLLAHAIAGELDLPILKVAAPEIVSGVSGESEQKLRELFEQAVSNAPCIIFIDEIDAITPKREV
  ASKDMERRIVAQLLTCMDDLNNVAATARVLVIGATNRPDSLDPALRRAGRFDREICLGIPDEASRERILQTLCRK
  LRLPQAFDFCHLAHLTPGFVGADLMALCREAAMCAVNRVLMKLQEQQKKNPEMEDLPSKGVQEERLGTEPTSETQ
  DELQRLLGLLRDQDPLSEEQMQGLCIELNDFIVALSSVQPSAKREGFVTVPNVTWADIGALEDIREELTMAILAP
  VRNPDQFKALGLVTPAGVLLAGPPGCGKTLLAKAVANESGLNFISVKGPELLNMYVGESERAVRQVFQRAKNSAP
  CVIFFDEVDALCPRRSDRETGASVRVVNQLLTEMDGLEARQQVFIMAATNRPDIIDPAILRPGRLDKTLFVGLPP
  PADRLAILKTITKNGTKPPLDADVNLEAIAGDLRCDCYTGADLSALVREASICALRQEMARQKSGNEKGELKVSH
  KHFEEAFKKVRSSISKKDQIMYERLQESLSR

• Structural information:
  • Interpro: IPR003593  IPR041569  IPR003959  IPR003960  IPR038100   IPR031996  IPR027417  
  • Prosite: PS00674
  • PDB: 2X8A 6RO1
  • PDBsum: 2X8A 6RO1
  • STRING: ENSP00000281701
• Other Databases: GeneCards:  NVL  Malacards:  NVL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0016887	ATPase activity	IBA	molecular function
GO:0051973	positive regulation of telomerase activity	IBA	biological process
GO:0042254	ribosome biogenesis	IBA	biological process
GO:1990275	preribosome binding	IBA	molecular function
GO:1990275	preribosome binding	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0042273	ribosomal large subunit biogenesis	IDA	biological process
GO:0000176	nuclear exosome (RNase complex)	IDA	colocalizes with
GO:0005730	nucleolus	IDA	colocalizes with
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:1904749	regulation of protein localization to nucleolus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0006364	rRNA processing	IDA	biological process
GO:0042254	ribosome biogenesis	IMP	biological process
GO:0042254	ribosome biogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IMP	molecular function
GO:0051973	positive regulation of telomerase activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042273	ribosomal large subunit biogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881