DHX16
entrez
8449
canonical
uniprot
O60231
canonical
ensembl
ENSG00000204560
resolver
ensembl
ENSG00000206486
resolver
ensembl
ENSG00000226171
resolver
ensembl
ENSG00000231377
resolver
ensembl
ENSG00000233049
resolver
ensembl
ENSG00000233418
resolver
ensembl
ENSG00000233561
resolver
ensp
ENSP00000365620
resolver
ensp
ENSP00000365625
resolver
ensp
ENSP00000373071
resolver
ensp
ENSP00000389862
resolver
ensp
ENSP00000390938
resolver
ensp
ENSP00000393958
resolver
ensp
ENSP00000396193
resolver
ensp
ENSP00000405391
resolver
ensp
ENSP00000406462
resolver
ensp
ENSP00000408956
resolver
ensp
ENSP00000409038
resolver
ensp
ENSP00000409091
resolver
ensp
ENSP00000409558
resolver
enst
ENST00000376437
resolver
enst
ENST00000376442
resolver
enst
ENST00000383577
resolver
enst
ENST00000414052
resolver
enst
ENST00000417308
resolver
enst
ENST00000421095
resolver
enst
ENST00000424672
resolver
enst
ENST00000445379
resolver
enst
ENST00000449861
resolver
enst
ENST00000451456
resolver
enst
ENST00000451748
resolver
enst
ENST00000453879
resolver
enst
ENST00000458094
resolver
genesymbol
DHX16
resolver
genesymbol_syn
DBP2
resolver
genesymbol_syn
DDX16
resolver
genesymbol_syn
KIAA0577
resolver
genesymbol_syn
PRP2
resolver
hgnc
HGNC:2739
resolver
uniprot
B4DZ28
resolver
uniprot
O60322
resolver
uniprot
Q5JP45
resolver
uniprot
Q5SQH4
resolver
uniprot
Q5SQH5
resolver
uniprot
Q969X7
resolver
uniprot
Q96QC1
resolver
uniprot_entry
B4DZ28_HUMAN
resolver
uniprot_entry
DHX16_HUMAN
resolver
uniprot_entry
Q5SQH4_HUMAN
resolver
uniprot_entry
Q5SQH5_HUMAN
resolver
uniprot_sec
O60322
resolver
uniprot_sec
Q5JP45
resolver
uniprot_sec
Q969X7
resolver
uniprot_sec
Q96QC1
resolver
amino_acid_sequence
MATPAGLERWVQDELHSVLGLSERHVAQFLIGTAQRCTSAEEFVQRLRDTDTLDLSGPARDFALRLWNKVPRKAVVEKPARAAEREARALLEKNRSYRLLEDSEESSEETVSRAGSSLQKKRKKRKHLRKKREEEEEEEASEKGKKKTGGSKQQTEKPESEDEWERTERERLQDLEERDAFAERVRQRDKDRTRNVLERSDKKAYEEAQKRLKMAEEDRKAMVPELRKKSRREYLAKREREKLEDLEAELADEEFLFGDVELSRHERQELKYKRRVRDLAREYRAAGEQEKLEATNRYHMPKETRGQPARAVDLVEEESGAPGEEQRRWEEARLGAASLKFGARDAASQEPKYQLVLEEEETIEFVRATQLQGDEEPSAPPTSTQAQQKESIQAVRRSLPVFPFREELLAAIANHQVLIIEGETGSGKTTQIPQYLFEEGYTNKGMKIACTQPRRVAAMSVAARVAREMGVKLGNEVGYSIRFEDCTSERTVLRYMTDGMLLREFLSEPDLASYSVVMVDEAHERTLHTDILFGLIKDVARFRPELKVLVASATMDTARFSTFFDDAPVFRIPGRRFPVDIFYTKAPEADYLEACVVSVLQIHVTQPPGDILVFLTGQEEIEAACEMLQDRCRRLGSKIRELLVLPIYANLPSDMQARIFQPTPPGARKVVVATNIAETSLTIEGIIYVLDPGFCKQKSYNPRTGMESLTVTPCSKASANQRAGRAGRVAAGKCFRLYTAWAYQHELEETTVPEIQRTSLGNVVLLLKSLGIHDLMHFDFLDPPPYETLLLALEQLYALGALNHLGELTTSGRKMAELPVDPMLSKMILASEKYSCSEEILTVAAMLSVNNSIFYRPKDKVVHADNARVNFFLPGGDHLVLLNVYTQWAESGYSSQWCYENFVQFRSMRRARDVREQLEGLLERVEVGLSSCQGDYIRVRKAITAGYFYHTARLTRSGYRTVKQQQTVFIHPNSSLFEQQPRWLLYHELVLTTKEFMRQVLEIESSWLLEVAPHYYKAKELEDPHAKKMPKKIGKTREELG
uniprot
proteins
disease_involvement
DISEASE: Neuromuscular oculoauditory syndrome (NMOAS) [MIM:618733]: An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures. {ECO:0000269|PubMed:31256877}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.13
uniprot
proteins
function
FUNCTION: Required for pre-mRNA splicing as a component of the spliceosome (PubMed:20423332, PubMed:20841358, PubMed:25296192, PubMed:29360106). Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Also plays a role in innate antiviral response by acting as a pattern recognition receptor sensing splicing signals in viral RNA (PubMed:35263596). Mechanistically, TRIM6 promotes the interaction between unanchored 'Lys-48'-polyubiquitin chains and DHX16, leading to DHX16 interaction with RIGI and ssRNA to amplify RIGI-dependent innate antiviral immune responses (PubMed:35263596). {ECO:0000269|PubMed:20423332, ECO:0000269|PubMed:20841358, ECO:0000269|PubMed:25296192, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:35263596, ECO:0000305|PubMed:33509932}.
uniprot
proteins
mass_dalton
119264
uniprot
proteins
mutagenesis
MUTAGEN 428; /note="K->A: Impairs pre-mRNA splicing activity."; /evidence="ECO:0000269|PubMed:20423332"; MUTAGEN 520; /note="D->A: Impairs pre-mRNA splicing activity."; /evidence="ECO:0000269|PubMed:20423332"; MUTAGEN 523; /note="H->A: No loss of pre-mRNA splicing activity."; /evidence="ECO:0000269|PubMed:20423332"; MUTAGEN 552; /note="S->L: Dominant-negative mutant. Impairs pre-mRNA splicing activity. Fails to interact with any of viral RNA forms."; /evidence="ECO:0000269|PubMed:20423332, ECO:0000269|PubMed:25296192, ECO:0000269|PubMed:35263596"; MUTAGEN 724; /note="G->N: Dominant-negative mutant. Impairs pre-mRNA splicing activity. Fails to interact with any of viral RNA forms."; /evidence="ECO:0000269|PubMed:20423332, ECO:0000269|PubMed:20841358, ECO:0000269|PubMed:25296192, ECO:0000269|PubMed:35263596
uniprot
proteins
protein_family
DDX16/PRP8 sub-subfamily
uniprot
proteins
protein_family
DEAD box helicase family
uniprot
proteins
protein_family
DEAH subfamily
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20423332
uniprot
proteins
pubmed
20841358
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25296192
uniprot
proteins
pubmed
29360106
uniprot
proteins
pubmed
31256877
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
35263596
uniprot
proteins
pubmed
9547260
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
1041
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20423332, ECO:0000269|PubMed:20841358, ECO:0000269|PubMed:25296192, ECO:0000269|PubMed:29360106}. Nucleus, nucleoplasm {ECO:0000269|PubMed:20423332}. Cytoplasm {ECO:0000269|PubMed:35263596}.
uniprot
proteins