Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4931
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear VCP like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NVL
Synonyms (NCBI Gene) Gene synonyms aliases
NVL2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.11
Summary Summary of gene provided in NCBI Entrez 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, h
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029165 hsa-miR-26b-5p Microarray 19088304
MIRT032271 hsa-let-7b-5p Proteomics 18668040
MIRT050341 hsa-miR-25-3p CLASH 23622248
MIRT045833 hsa-miR-138-5p CLASH 23622248
MIRT044927 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000176 Component Nuclear exosome (RNase complex) IDA 26166824
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 15469983, 16782053, 22226966, 26166824, 28416111, 31358741
GO:0005524 Function ATP binding IMP 22226966
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602426 8070 ENSG00000143748
Protein
UniProt ID O15381
Protein name Nuclear valosin-containing protein-like (NVLp) (Nuclear VCP-like protein)
Protein 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). Spatiot
PDB 2X8A , 6RO1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16725 Nucleolin_bd 2 72 Nucleolin binding domain Domain
PF00004 AAA 301 434 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 456 505 AAA+ lid domain Domain
PF00004 AAA 618 748 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 773 830 AAA+ lid domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest level of expression in heart, placenta, skeletal muscle, pancreas and retina. {ECO:0000269|PubMed:9286697}.
Sequence
MKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVE
KVFSIISSEKEL
KNLTELEDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHMN
SSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKDSEGGWFIDKTPS
VKKDSFFLDLSCEKSNPKKPITEIQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDG
EIEAVLQKKAKARGLEFQISNVKFEDVGGNDMTLKEVCKMLIHMRHPEVYHHLGVVPPRG
VLLHGPPGCGKTLLAHAIAGELDLPILKVAAPEIVSGVSGESEQKLRELFEQAVSNAPCI
IFIDEIDAITPKREVASKDMERRIVAQLLTCMDDLNNVAATARVLVIGATNRPDSLDPAL
RRAGRFDREICLGI
PDEASRERILQTLCRKLRLPQAFDFCHLAHLTPGFVGADLMALCRE
AAMCAVNRVLMKLQEQQKKNPEMED
LPSKGVQEERLGTEPTSETQDELQRLLGLLRDQDP
LSEEQMQGLCIELNDFIVALSSVQPSAKREGFVTVPNVTWADIGALEDIREELTMAILAP
VRNPDQFKALGLVTPAGVLLAGPPGCGKTLLAKAVANESGLNFISVKGPELLNMYVGESE
RAVRQVFQRAKNSAPCVIFFDEVDALCPRRSDRETGASVRVVNQLLTEMDGLEARQQVFI
MAATNRPDIIDPAILRPGRLDKTLFVGL
PPPADRLAILKTITKNGTKPPLDADVNLEAIA
GDLRCDCYTGADLSALVREASICALRQEMARQKSGNEKGELKVSHKHFEE
AFKKVRSSIS
KKDQIMYERLQESLSR
Sequence length 856
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Ribosome biogenesis in eukaryotes  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 35589867
Liver Diseases Alcoholic Associate 29474507