UniProtKB - O60231 (DHX16_HUMAN)
Protein
Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16
Gene
DHX16
Organism
Homo sapiens (Human)
Status
Functioni
Required for pre-mRNA splicing as 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.4 Publications
Catalytic activityi
- EC:3.6.4.13
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 422 – 429 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: Reactome
- ATP binding Source: UniProtKB-KW
- RNA binding Source: UniProtKB
- RNA helicase activity Source: ProtInc
GO - Biological processi
- mRNA splicing, via spliceosome Source: UniProtKB
- RNA splicing Source: ProtInc
Keywordsi
Molecular function | Helicase, Hydrolase |
Biological process | mRNA processing, mRNA splicing |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 3.6.4.13, 2681 |
PathwayCommonsi | O60231 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
Names & Taxonomyi
Protein namesi | Recommended name: Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 (EC:3.6.4.13)Alternative name(s): ATP-dependent RNA helicase #3 DEAH-box protein 16 |
Gene namesi | Name:DHX16 Synonyms:DBP2, DDX16, KIAA0577, PRP22 Publications |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2739, DHX16 |
MIMi | 603405, gene |
neXtProti | NX_O60231 |
VEuPathDBi | HostDB:ENSG00000204560.9 |
Subcellular locationi
Nucleus
- Nucleus 4 Publications
- nucleoplasm 1 Publication
Nucleus
- nucleoplasm Source: UniProtKB
- nucleus Source: UniProtKB
- spliceosomal complex Source: UniProtKB
- U2-type precatalytic spliceosome Source: UniProtKB
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Involvement in diseasei
Neuromuscular oculoauditory syndrome (NMOAS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083621 | 427 | G → E in NMOAS. 1 Publication | 1 | |
Natural variantiVAR_083622 | 582 | F → I in NMOAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083623 | 674 | T → M in NMOAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083624 | 697 | Q → H in NMOAS; unknown pathological significance. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 428 | K → A: Impairs pre-mRNA splicing activity. 1 Publication | 1 | |
Mutagenesisi | 520 | D → A: Impairs pre-mRNA splicing activity. 1 Publication | 1 | |
Mutagenesisi | 523 | H → A: No loss of pre-mRNA splicing activity. 1 Publication | 1 | |
Mutagenesisi | 552 | S → L: Dominant-negative mutant. Impairs pre-mRNA splicing activity. 2 Publications | 1 | |
Mutagenesisi | 724 | G → N: Dominant-negative mutant. Impairs pre-mRNA splicing activity. 3 Publications | 1 |
Keywords - Diseasei
Disease variant, NeuropathyOrganism-specific databases
DisGeNETi | 8449 |
MalaCardsi | DHX16 |
MIMi | 618733, phenotype |
OpenTargetsi | ENSG00000204560 |
PharmGKBi | PA27205 |
Miscellaneous databases
Pharosi | O60231, Tbio |
Genetic variation databases
BioMutai | DHX16 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000055151 | 1 – 1041 | Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16Add BLAST | 1041 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 103 | PhosphoserineCombined sources | 1 | |
Modified residuei | 106 | PhosphoserineCombined sources | 1 | |
Modified residuei | 107 | PhosphoserineCombined sources | 1 | |
Modified residuei | 160 | PhosphoserineCombined sources | 1 | |
Modified residuei | 712 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O60231 |
jPOSTi | O60231 |
MassIVEi | O60231 |
PaxDbi | O60231 |
PeptideAtlasi | O60231 |
PRIDEi | O60231 |
ProteomicsDBi | 49258 |
PTM databases
iPTMneti | O60231 |
MetOSitei | O60231 |
PhosphoSitePlusi | O60231 |
Expressioni
Tissue specificityi
Expressed in the spleen, thyroid and testis. Also expressed in the brain and cerebellum.1 Publication
Gene expression databases
Bgeei | ENSG00000204560, Expressed in left lobe of thyroid gland and 234 other tissues |
ExpressionAtlasi | O60231, baseline and differential |
Genevisiblei | O60231, HS |
Organism-specific databases
HPAi | ENSG00000204560, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsO60231
With | #Exp. | IntAct |
---|---|---|
DHX38 [Q92620] | 2 | EBI-311446,EBI-1043041 |
GPKOW [Q92917] | 3 | EBI-311446,EBI-746309 |
SF3B2 [Q13435] | 2 | EBI-311446,EBI-749111 |
XAB2 [Q9HCS7] | 2 | EBI-311446,EBI-295232 |
Protein-protein interaction databases
BioGRIDi | 114027, 82 interactors |
CORUMi | O60231 |
IntActi | O60231, 33 interactors |
MINTi | O60231 |
STRINGi | 9606.ENSP00000365625 |
Miscellaneous databases
RNActi | O60231, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 409 – 573 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 165 | |
Domaini | 598 – 771 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 174 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 520 – 523 | DEAH box | 4 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0923, Eukaryota |
GeneTreei | ENSGT00940000158480 |
HOGENOMi | CLU_001832_7_1_1 |
InParanoidi | O60231 |
OMAi | VYNQWVE |
OrthoDBi | 354219at2759 |
PhylomeDBi | O60231 |
TreeFami | TF313473 |
Family and domain databases
InterProi | View protein in InterPro IPR011545, DEAD/DEAH_box_helicase_dom IPR002464, DNA/RNA_helicase_DEAH_CS IPR011709, DUF1605 IPR007502, Helicase-assoc_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF00270, DEAD, 1 hit PF04408, HA2, 1 hit PF00271, Helicase_C, 1 hit PF07717, OB_NTP_bind, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00847, HA2, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00690, DEAH_ATP_HELICASE, 1 hit PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
O60231-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MATPAGLERW VQDELHSVLG LSERHVAQFL IGTAQRCTSA EEFVQRLRDT
60 70 80 90 100
DTLDLSGPAR DFALRLWNKV PRKAVVEKPA RAAEREARAL LEKNRSYRLL
110 120 130 140 150
EDSEESSEET VSRAGSSLQK KRKKRKHLRK KREEEEEEEA SEKGKKKTGG
160 170 180 190 200
SKQQTEKPES EDEWERTERE RLQDLEERDA FAERVRQRDK DRTRNVLERS
210 220 230 240 250
DKKAYEEAQK RLKMAEEDRK AMVPELRKKS RREYLAKRER EKLEDLEAEL
260 270 280 290 300
ADEEFLFGDV ELSRHERQEL KYKRRVRDLA REYRAAGEQE KLEATNRYHM
310 320 330 340 350
PKETRGQPAR AVDLVEEESG APGEEQRRWE EARLGAASLK FGARDAASQE
360 370 380 390 400
PKYQLVLEEE ETIEFVRATQ LQGDEEPSAP PTSTQAQQKE SIQAVRRSLP
410 420 430 440 450
VFPFREELLA AIANHQVLII EGETGSGKTT QIPQYLFEEG YTNKGMKIAC
460 470 480 490 500
TQPRRVAAMS VAARVAREMG VKLGNEVGYS IRFEDCTSER TVLRYMTDGM
510 520 530 540 550
LLREFLSEPD LASYSVVMVD EAHERTLHTD ILFGLIKDVA RFRPELKVLV
560 570 580 590 600
ASATMDTARF STFFDDAPVF RIPGRRFPVD IFYTKAPEAD YLEACVVSVL
610 620 630 640 650
QIHVTQPPGD ILVFLTGQEE IEAACEMLQD RCRRLGSKIR ELLVLPIYAN
660 670 680 690 700
LPSDMQARIF QPTPPGARKV VVATNIAETS LTIEGIIYVL DPGFCKQKSY
710 720 730 740 750
NPRTGMESLT VTPCSKASAN QRAGRAGRVA AGKCFRLYTA WAYQHELEET
760 770 780 790 800
TVPEIQRTSL GNVVLLLKSL GIHDLMHFDF LDPPPYETLL LALEQLYALG
810 820 830 840 850
ALNHLGELTT SGRKMAELPV DPMLSKMILA SEKYSCSEEI LTVAAMLSVN
860 870 880 890 900
NSIFYRPKDK VVHADNARVN FFLPGGDHLV LLNVYTQWAE SGYSSQWCYE
910 920 930 940 950
NFVQFRSMRR ARDVREQLEG LLERVEVGLS SCQGDYIRVR KAITAGYFYH
960 970 980 990 1000
TARLTRSGYR TVKQQQTVFI HPNSSLFEQQ PRWLLYHELV LTTKEFMRQV
1010 1020 1030 1040
LEIESSWLLE VAPHYYKAKE LEDPHAKKMP KKIGKTREEL G
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5SQH5 | Q5SQH5_HUMAN | RNA helicase | DHX16 hCG_26008 | 560 | Annotation score: | ||
A0A140T8Y5 | A0A140T8Y5_HUMAN | RNA helicase | DHX16 | 560 | Annotation score: | ||
A0A140T947 | A0A140T947_HUMAN | Pre-mRNA-splicing factor ATP-depend... | DHX16 | 669 | Annotation score: | ||
A2AB15 | A2AB15_HUMAN | Pre-mRNA-splicing factor ATP-depend... | DHX16 | 295 | Annotation score: | ||
A0A140T9T4 | A0A140T9T4_HUMAN | Pre-mRNA-splicing factor ATP-depend... | DHX16 | 188 | Annotation score: |
Sequence cautioni
The sequence BAA25503 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 223 | V → I in BAA25908 (PubMed:9547260).Curated | 1 | |
Sequence conflicti | 631 | R → P in BAA25908 (PubMed:9547260).Curated | 1 | |
Sequence conflicti | 681 | L → P in BAA25908 (PubMed:9547260).Curated | 1 | |
Sequence conflicti | 792 | A → T in BAA25908 (PubMed:9547260).Curated | 1 | |
Sequence conflicti | 899 | Y → C in BAA25908 (PubMed:9547260).Curated | 1 | |
Sequence conflicti | 1032 | K → KK in AAH08825 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 1032 | K → KK in AAH09392 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057236 | 352 | K → E. Corresponds to variant dbSNP:rs17189239EnsemblClinVar. | 1 | |
Natural variantiVAR_083621 | 427 | G → E in NMOAS. 1 Publication | 1 | |
Natural variantiVAR_057237 | 502 | L → F. Corresponds to variant dbSNP:rs17189232Ensembl. | 1 | |
Natural variantiVAR_057238 | 566 | D → G1 PublicationCorresponds to variant dbSNP:rs9262138Ensembl. | 1 | |
Natural variantiVAR_083622 | 582 | F → I in NMOAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083623 | 674 | T → M in NMOAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083624 | 697 | Q → H in NMOAS; unknown pathological significance. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB001601 mRNA Translation: BAA25908.1 BA000025 Genomic DNA Translation: BAB63323.1 AB011149 mRNA Translation: BAA25503.2 Different initiation. AL845353 Genomic DNA No translation available. BC008825 mRNA Translation: AAH08825.1 BC009392 mRNA Translation: AAH09392.1 |
CCDSi | CCDS4685.1 |
RefSeqi | NP_001157711.1, NM_001164239.1 NP_003578.2, NM_003587.4 |
Genome annotation databases
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB001601 mRNA Translation: BAA25908.1 BA000025 Genomic DNA Translation: BAB63323.1 AB011149 mRNA Translation: BAA25503.2 Different initiation. AL845353 Genomic DNA No translation available. BC008825 mRNA Translation: AAH08825.1 BC009392 mRNA Translation: AAH09392.1 |
CCDSi | CCDS4685.1 |
RefSeqi | NP_001157711.1, NM_001164239.1 NP_003578.2, NM_003587.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5Z56 | electron microscopy | 5.10 | x | 1-1041 | [»] | |
5Z57 | electron microscopy | 6.50 | x | 1-1041 | [»] | |
5Z58 | electron microscopy | 4.90 | x | 1-1041 | [»] | |
6FF7 | electron microscopy | 4.50 | q | 1-1041 | [»] | |
SMRi | O60231 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114027, 82 interactors |
CORUMi | O60231 |
IntActi | O60231, 33 interactors |
MINTi | O60231 |
STRINGi | 9606.ENSP00000365625 |
PTM databases
iPTMneti | O60231 |
MetOSitei | O60231 |
PhosphoSitePlusi | O60231 |
Genetic variation databases
BioMutai | DHX16 |
Proteomic databases
EPDi | O60231 |
jPOSTi | O60231 |
MassIVEi | O60231 |
PaxDbi | O60231 |
PeptideAtlasi | O60231 |
PRIDEi | O60231 |
ProteomicsDBi | 49258 |
Protocols and materials databases
Antibodypediai | 26473, 96 antibodies |
DNASUi | 8449 |
Genome annotation databases
Organism-specific databases
CTDi | 8449 |
DisGeNETi | 8449 |
GeneCardsi | DHX16 |
HGNCi | HGNC:2739, DHX16 |
HPAi | ENSG00000204560, Low tissue specificity |
MalaCardsi | DHX16 |
MIMi | 603405, gene 618733, phenotype |
neXtProti | NX_O60231 |
OpenTargetsi | ENSG00000204560 |
PharmGKBi | PA27205 |
VEuPathDBi | HostDB:ENSG00000204560.9 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0923, Eukaryota |
GeneTreei | ENSGT00940000158480 |
HOGENOMi | CLU_001832_7_1_1 |
InParanoidi | O60231 |
OMAi | VYNQWVE |
OrthoDBi | 354219at2759 |
PhylomeDBi | O60231 |
TreeFami | TF313473 |
Enzyme and pathway databases
BRENDAi | 3.6.4.13, 2681 |
PathwayCommonsi | O60231 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
Miscellaneous databases
BioGRID-ORCSi | 8449, 703 hits in 889 CRISPR screens |
GeneWikii | DHX16 |
GenomeRNAii | 8449 |
Pharosi | O60231, Tbio |
PROi | PR:O60231 |
RNActi | O60231, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204560, Expressed in left lobe of thyroid gland and 234 other tissues |
ExpressionAtlasi | O60231, baseline and differential |
Genevisiblei | O60231, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011545, DEAD/DEAH_box_helicase_dom IPR002464, DNA/RNA_helicase_DEAH_CS IPR011709, DUF1605 IPR007502, Helicase-assoc_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF00270, DEAD, 1 hit PF04408, HA2, 1 hit PF00271, Helicase_C, 1 hit PF07717, OB_NTP_bind, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00847, HA2, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00690, DEAH_ATP_HELICASE, 1 hit PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DHX16_HUMAN | |
Accessioni | O60231Primary (citable) accession number: O60231 Secondary accession number(s): O60322 Q96QC1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | November 28, 2002 | |
Last modified: | February 10, 2021 | |
This is version 208 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families