NVL
entrez
4931
canonical
uniprot
O15381
canonical
ensembl
ENSG00000143748
resolver
ensp
ENSP00000281701
resolver
ensp
ENSP00000341362
resolver
ensp
ENSP00000375747
resolver
ensp
ENSP00000417826
resolver
ensp
ENSP00000692985
resolver
ensp
ENSP00000752541
resolver
genesymbol
NVL
resolver
genesymbol_syn
NVL2
resolver
hgnc
HGNC:8070
resolver
uniprot
B4DF43
resolver
uniprot
B4DMC4
resolver
uniprot
B4DP98
resolver
uniprot
Q96EM7
resolver
uniprot_entry
B4DF43_HUMAN
resolver
uniprot_entry
NVL_HUMAN
resolver
uniprot_sec
B4DMC4
resolver
uniprot_sec
B4DP98
resolver
uniprot_sec
Q96EM7
resolver
amino_acid_sequence
MKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTELEDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHMNSSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKDSEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKAKARGLEFQISNVKFEDVGGNDMTLKEVCKMLIHMRHPEVYHHLGVVPPRGVLLHGPPGCGKTLLAHAIAGELDLPILKVAAPEIVSGVSGESEQKLRELFEQAVSNAPCIIFIDEIDAITPKREVASKDMERRIVAQLLTCMDDLNNVAATARVLVIGATNRPDSLDPALRRAGRFDREICLGIPDEASRERILQTLCRKLRLPQAFDFCHLAHLTPGFVGADLMALCREAAMCAVNRVLMKLQEQQKKNPEMEDLPSKGVQEERLGTEPTSETQDELQRLLGLLRDQDPLSEEQMQGLCIELNDFIVALSSVQPSAKREGFVTVPNVTWADIGALEDIREELTMAILAPVRNPDQFKALGLVTPAGVLLAGPPGCGKTLLAKAVANESGLNFISVKGPELLNMYVGESERAVRQVFQRAKNSAPCVIFFDEVDALCPRRSDRETGASVRVVNQLLTEMDGLEARQQVFIMAATNRPDIIDPAILRPGRLDKTLFVGLPPPADRLAILKTITKNGTKPPLDADVNLEAIAGDLRCDCYTGADLSALVREASICALRQEMARQKSGNEKGELKVSHKHFEEAFKKVRSSISKKDQIMYERLQESLSR
uniprot
proteins
function
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). Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus (PubMed:15469983, PubMed:16782053, PubMed:26456651, PubMed:29107693). Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity (PubMed:26456651, PubMed:28416111, PubMed:29107693). {ECO:0000269|PubMed:15469983, ECO:0000269|PubMed:16782053, ECO:0000269|PubMed:22226966, ECO:0000269|PubMed:26166824, ECO:0000269|PubMed:26456651, ECO:0000269|PubMed:28416111, ECO:0000269|PubMed:29107693}.
uniprot
proteins
mass_dalton
95051
uniprot
proteins
mutagenesis
MUTAGEN 51..52; /note="KR->AA: Loss of nucleolar localization and interaction with RPL5."; /evidence="ECO:0000269|PubMed:15469983"; MUTAGEN 85..86; /note="KR->AA: Decreased nuclear localization. Complete loss of nuclear localization; when associated with 218-A--A-220 and 230-A--A-232."; /evidence="ECO:0000269|PubMed:15469983"; MUTAGEN 173; /note="W->A: Abolishes binding to MTREX."; /evidence="ECO:0000269|PubMed:31358741"; MUTAGEN 175; /note="I->E: Impairs binding to MTREX."; /evidence="ECO:0000269|PubMed:31358741"; MUTAGEN 176; /note="D->A: Impairs the binding of MTREX."; /evidence="ECO:0000269|PubMed:31358741"; MUTAGEN 218..220; /note="KRK->AAA: Decreased nuclear localization; when associated with 230-A--A-232. Complete loss of nuclear localization; when associated with 85-A-A-86 and 230-A--A-232."; /evidence="ECO:0000269|PubMed:15469983"; MUTAGEN 230..232; /note="RKK->AAA: Decreased nuclear localization when associated with 218-A--A-220. Complete loss of nuclear localization; when associated with 85-A-A-86 and 218-A--A-220."; /evidence="ECO:0000269|PubMed:15469983"; MUTAGEN 311; /note="K->M: Loss of ATP-binding. Significant reduction in interaction with TERT and in telomerase activity. Loss of interaction with MTREX."; /evidence="ECO:0000269|PubMed:16782053, ECO:0000269|PubMed:22226966, ECO:0000305|PubMed:22226966"; MUTAGEN 365; /note="E->Q: Decreases 60S ribosomes synthesis. Strongly decreases 60S ribosomal subunit synthesis, enhances interaction with WDR74 and increases association of WDR74 and MTREX as well as induces partial migration of WDR74 to the nucleoplasm; when associated with Q-682."; /evidence="ECO:0000269|PubMed:26166824, ECO:0000269|PubMed:26456651"; MUTAGEN 628; /note="K->M: Loss of ATP-binding. No effect on interaction with TERT, MTREX and RPL5 and on telomerase activity. Significant reduction in the level of the 60S ribosomal subunit."; /evidence="ECO:0000269|PubMed:15469983, ECO:0000269|PubMed:16782053, ECO:0000269|PubMed:22226966, ECO:0000269|PubMed:26166824, ECO:0000305|PubMed:22226966"; MUTAGEN 682; /note="E->Q: Decreases 60S ribosomes synthesis. Strongly decreases 60S ribosomal subunit synthesis, enhances interaction with WDR74 and increases association of WDR74 and MTREX as well as induces partial migration of WDR74 to the nucleoplasm; when associated with Q-365."; /evidence="ECO:0000269|PubMed:26166824, ECO:0000269|PubMed:26456651
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
pubmed
12429849
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15469983
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16782053
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21474449
uniprot
proteins
pubmed
22226966
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26166824
uniprot
proteins
pubmed
26456651
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28416111
uniprot
proteins
pubmed
29107693
uniprot
proteins
pubmed
31358741
uniprot
proteins
pubmed
9286697
uniprot
proteins
sequence_length
856
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 2]: Nucleus, nucleoplasm {ECO:0000269|PubMed:15469983}.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:15469983, ECO:0000269|PubMed:22226966, ECO:0000269|PubMed:26456651, ECO:0000269|PubMed:9286697}. Nucleus, nucleoplasm {ECO:0000269|PubMed:15469983}. Note=Expressed predominantly in the nucleolus. Associates with pre-ribosomal particles in the nucleus. {ECO:0000269|PubMed:16782053}.
uniprot
proteins