UniProtKB - Q14562 (DHX8_HUMAN)
Protein
ATP-dependent RNA helicase DHX8
Gene
DHX8
Organism
Homo sapiens (Human)
Status
Functioni
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946).4 Publications
Catalytic activityi
- EC:3.6.4.13
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 588 – 595 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- identical protein binding Source: IntAct
- RNA binding Source: UniProtKB
- RNA helicase activity Source: ProtInc
GO - Biological processi
- mRNA splicing, via spliceosome Source: UniProtKB
- RNA processing Source: ProtInc
- RNA splicing Source: ProtInc
- spliceosomal complex disassembly Source: GO_Central
Keywordsi
Molecular function | Helicase, Hydrolase |
Biological process | mRNA processing, mRNA splicing |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q14562 |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-dependent RNA helicase DHX8 (EC:3.6.4.13)Alternative name(s): DEAH box protein 8 RNA helicase HRH12 Publications |
Gene namesi | Name:DHX8 Synonyms:DDX8 |
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
EuPathDBi | HostDB:ENSG00000067596.10 |
HGNCi | HGNC:2749, DHX8 |
MIMi | 600396, gene |
neXtProti | NX_Q14562 |
Subcellular locationi
Nucleus
- Nucleus 3 Publications
Nucleus
- catalytic step 2 spliceosome Source: UniProtKB
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- spliceosomal complex Source: ProtInc
- U2-type catalytic step 2 spliceosome Source: UniProtKB
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 594 | K → E in GET; inhibition of pre-mRNA splicing and nuclear export of unspliced RNA. | 1 | |
Mutagenesisi | 717 | S → L in LAT; inhibition of pre-mRNA splicing and nuclear export of unspliced RNA. | 1 |
Organism-specific databases
DisGeNETi | 1659 |
OpenTargetsi | ENSG00000067596 |
PharmGKBi | PA27231 |
Miscellaneous databases
Pharosi | Q14562, Tbio |
Polymorphism and mutation databases
BioMutai | DHX8 |
DMDMi | 3023637 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000055131 | 1 – 1220 | ATP-dependent RNA helicase DHX8Add BLAST | 1220 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 140 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 395 | PhosphoserineCombined sources | 1 | |
Cross-linki | 399 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 460 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q14562 |
jPOSTi | Q14562 |
MassIVEi | Q14562 |
MaxQBi | Q14562 |
PaxDbi | Q14562 |
PeptideAtlasi | Q14562 |
PRIDEi | Q14562 |
ProteomicsDBi | 60044 |
PTM databases
iPTMneti | Q14562 |
MetOSitei | Q14562 |
PhosphoSitePlusi | Q14562 |
Expressioni
Tissue specificityi
Expressed in skin, cervix and nerve. Also expressed in the brain.1 Publication
Gene expression databases
Bgeei | ENSG00000067596, Expressed in leukocyte and 200 other tissues |
ExpressionAtlasi | Q14562, baseline and differential |
Genevisiblei | Q14562, HS |
Organism-specific databases
HPAi | ENSG00000067596, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ14562
With | #Exp. | IntAct |
---|---|---|
CHERP [Q8IWX8] | 2 | EBI-2511477,EBI-2555370 |
itself | 2 | EBI-2511477,EBI-2511477 |
ISY1 [Q9ULR0] | 2 | EBI-2511477,EBI-2557660 |
NKAP [Q8N5F7] | 2 | EBI-2511477,EBI-721539 |
SRPK1 [Q96SB4] | 2 | EBI-2511477,EBI-539478 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 108024, 99 interactors |
CORUMi | Q14562 |
IntActi | Q14562, 55 interactors |
MINTi | Q14562 |
STRINGi | 9606.ENSP00000262415 |
Miscellaneous databases
RNActi | Q14562, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q14562 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q14562 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 265 – 336 | S1 motifPROSITE-ProRule annotationAdd BLAST | 72 | |
Domaini | 575 – 738 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 164 | |
Domaini | 756 – 936 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 181 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 685 – 688 | DEAH box | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 172 – 175 | Poly-Lys | 4 | |
Compositional biasi | 176 – 228 | Arg/Ser-rich (RS domain)Add BLAST | 53 |
Domaini
The RS domain confers a nuclear localization signal, and appears to facilitate the interaction with the spliceosome.
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0922, Eukaryota |
GeneTreei | ENSGT00940000155510 |
HOGENOMi | CLU_001832_2_1_1 |
InParanoidi | Q14562 |
OMAi | RIQKAIC |
OrthoDBi | 354219at2759 |
PhylomeDBi | Q14562 |
TreeFami | TF300509 |
Family and domain databases
InterProi | View protein in InterPro IPR002464, DNA/RNA_helicase_DEAH_CS IPR011709, DUF1605 IPR007502, Helicase-assoc_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR012340, NA-bd_OB-fold IPR027417, P-loop_NTPase IPR022967, S1_dom IPR003029, S1_domain |
Pfami | View protein in Pfam PF04408, HA2, 1 hit PF00271, Helicase_C, 1 hit PF07717, OB_NTP_bind, 1 hit PF00575, S1, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00847, HA2, 1 hit SM00490, HELICc, 1 hit SM00316, S1, 1 hit |
SUPFAMi | SSF50249, SSF50249, 1 hit 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 PS50126, S1, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q14562-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAVAVAMAGA LIGSEPGPAE ELAKLEYLSL VSKVCTELDN HLGINDKDLA
60 70 80 90 100
EFVISLAEKN TTFDTFKASL VKNGAEFTDS LISNLLRLIQ TMRPPAKPST
110 120 130 140 150
SKDPVVKPKT EKEKLKELFP VLCQPDNPSV RTMLDEDDVK VAVDVLKELE
160 170 180 190 200
ALMPSAAGQE KQRDAEHRDR TKKKKRSRSR DRNRDRDRDR ERNRDRDHKR
210 220 230 240 250
RHRSRSRSRS RTRERNKVKS RYRSRSRSQS PPKDRKDRDK YGERNLDRWR
260 270 280 290 300
DKHVDRPPPE EPTIGDIYNG KVTSIMQFGC FVQLEGLRKR WEGLVHISEL
310 320 330 340 350
RREGRVANVA DVVSKGQRVK VKVLSFTGTK TSLSMKDVDQ ETGEDLNPNR
360 370 380 390 400
RRNLVGETNE ETSMRNPDRP THLSLVSAPE VEDDSLERKR LTRISDPEKW
410 420 430 440 450
EIKQMIAANV LSKEEFPDFD EETGILPKVD DEEDEDLEIE LVEEEPPFLR
460 470 480 490 500
GHTKQSMDMS PIKIVKNPDG SLSQAAMMQS ALAKERRELK QAQREAEMDS
510 520 530 540 550
IPMGLNKHWV DPLPDAEGRQ IAANMRGIGM MPNDIPEWKK HAFGGNKASY
560 570 580 590 600
GKKTQMSILE QRESLPIYKL KEQLVQAVHD NQILIVIGET GSGKTTQITQ
610 620 630 640 650
YLAEAGYTSR GKIGCTQPRR VAAMSVAKRV SEEFGCCLGQ EVGYTIRFED
660 670 680 690 700
CTSPETVIKY MTDGMLLREC LIDPDLTQYA IIMLDEAHER TIHTDVLFGL
710 720 730 740 750
LKKTVQKRQD MKLIVTSATL DAVKFSQYFY EAPIFTIPGR TYPVEILYTK
760 770 780 790 800
EPETDYLDAS LITVMQIHLT EPPGDILVFL TGQEEIDTAC EILYERMKSL
810 820 830 840 850
GPDVPELIIL PVYSALPSEM QTRIFDPAPP GSRKVVIATN IAETSLTIDG
860 870 880 890 900
IYYVVDPGFV KQKVYNSKTG IDQLVVTPIS QAQAKQRAGR AGRTGPGKCY
910 920 930 940 950
RLYTERAYRD EMLTTNVPEI QRTNLASTVL SLKAMGINDL LSFDFMDAPP
960 970 980 990 1000
METLITAMEQ LYTLGALDDE GLLTRLGRRM AEFPLEPMLC KMLIMSVHLG
1010 1020 1030 1040 1050
CSEEMLTIVS MLSVQNVFYR PKDKQALADQ KKAKFHQTEG DHLTLLAVYN
1060 1070 1080 1090 1100
SWKNNKFSNP WCYENFIQAR SLRRAQDIRK QMLGIMDRHK LDVVSCGKST
1110 1120 1130 1140 1150
VRVQKAICSG FFRNAAKKDP QEGYRTLIDQ QVVYIHPSSA LFNRQPEWVV
1160 1170 1180 1190 1200
YHELVLTTKE YMREVTTIDP RWLVEFAPAF FKVSDPTKLS KQKKQQRLEP
1210 1220
LYNRYEEPNA WRISRAFRRR
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H658 | F5H658_HUMAN | RNA helicase | DHX8 | 1,181 | Annotation score: | ||
K7END7 | K7END7_HUMAN | ATP-dependent RNA helicase DHX8 | DHX8 | 138 | Annotation score: | ||
K7EQH7 | K7EQH7_HUMAN | ATP-dependent RNA helicase DHX8 | DHX8 | 53 | Annotation score: | ||
K7EJH9 | K7EJH9_HUMAN | ATP-dependent RNA helicase DHX8 | DHX8 | 33 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083620 | 168 | R → W Found in a patient with a neurodevelopmental disorder; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_052174 | 1069 | A → G. Corresponds to variant dbSNP:rs34285079Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D50487 mRNA Translation: BAA09078.1 |
CCDSi | CCDS11464.1 |
PIRi | A56236 |
RefSeqi | NP_001289552.1, NM_001302623.1 NP_004932.1, NM_004941.2 |
Genome annotation databases
Ensembli | ENST00000262415; ENSP00000262415; ENSG00000067596 ENST00000650571; ENSP00000496923; ENSG00000067596 |
GeneIDi | 1659 |
KEGGi | hsa:1659 |
UCSCi | uc002idu.2, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D50487 mRNA Translation: BAA09078.1 |
CCDSi | CCDS11464.1 |
PIRi | A56236 |
RefSeqi | NP_001289552.1, NM_001302623.1 NP_004932.1, NM_004941.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2EQS | NMR | - | A | 260-355 | [»] | |
3I4U | X-ray | 2.10 | A | 950-1183 | [»] | |
5MQF | electron microscopy | 5.90 | q | 1-1220 | [»] | |
5XJC | electron microscopy | 3.60 | Y | 1-1220 | [»] | |
6HYS | X-ray | 2.60 | A/B/C/D | 548-1220 | [»] | |
6HYT | X-ray | 2.33 | A/B/C/D | 548-1220 | [»] | |
6HYU | X-ray | 3.22 | A/C | 548-1220 | [»] | |
6ICZ | electron microscopy | 3.00 | Y | 1-1220 | [»] | |
6QDV | electron microscopy | 3.30 | V | 1-1220 | [»] | |
SMRi | Q14562 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108024, 99 interactors |
CORUMi | Q14562 |
IntActi | Q14562, 55 interactors |
MINTi | Q14562 |
STRINGi | 9606.ENSP00000262415 |
PTM databases
iPTMneti | Q14562 |
MetOSitei | Q14562 |
PhosphoSitePlusi | Q14562 |
Polymorphism and mutation databases
BioMutai | DHX8 |
DMDMi | 3023637 |
Proteomic databases
EPDi | Q14562 |
jPOSTi | Q14562 |
MassIVEi | Q14562 |
MaxQBi | Q14562 |
PaxDbi | Q14562 |
PeptideAtlasi | Q14562 |
PRIDEi | Q14562 |
ProteomicsDBi | 60044 |
Protocols and materials databases
Antibodypediai | 29563, 182 antibodies |
Genome annotation databases
Ensembli | ENST00000262415; ENSP00000262415; ENSG00000067596 ENST00000650571; ENSP00000496923; ENSG00000067596 |
GeneIDi | 1659 |
KEGGi | hsa:1659 |
UCSCi | uc002idu.2, human |
Organism-specific databases
CTDi | 1659 |
DisGeNETi | 1659 |
EuPathDBi | HostDB:ENSG00000067596.10 |
GeneCardsi | DHX8 |
HGNCi | HGNC:2749, DHX8 |
HPAi | ENSG00000067596, Low tissue specificity |
MIMi | 600396, gene |
neXtProti | NX_Q14562 |
OpenTargetsi | ENSG00000067596 |
PharmGKBi | PA27231 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0922, Eukaryota |
GeneTreei | ENSGT00940000155510 |
HOGENOMi | CLU_001832_2_1_1 |
InParanoidi | Q14562 |
OMAi | RIQKAIC |
OrthoDBi | 354219at2759 |
PhylomeDBi | Q14562 |
TreeFami | TF300509 |
Enzyme and pathway databases
PathwayCommonsi | Q14562 |
Miscellaneous databases
BioGRID-ORCSi | 1659, 742 hits in 848 CRISPR screens |
ChiTaRSi | DHX8, human |
EvolutionaryTracei | Q14562 |
GenomeRNAii | 1659 |
Pharosi | Q14562, Tbio |
PROi | PR:Q14562 |
RNActi | Q14562, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000067596, Expressed in leukocyte and 200 other tissues |
ExpressionAtlasi | Q14562, baseline and differential |
Genevisiblei | Q14562, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002464, DNA/RNA_helicase_DEAH_CS IPR011709, DUF1605 IPR007502, Helicase-assoc_dom IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR012340, NA-bd_OB-fold IPR027417, P-loop_NTPase IPR022967, S1_dom IPR003029, S1_domain |
Pfami | View protein in Pfam PF04408, HA2, 1 hit PF00271, Helicase_C, 1 hit PF07717, OB_NTP_bind, 1 hit PF00575, S1, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00847, HA2, 1 hit SM00490, HELICc, 1 hit SM00316, S1, 1 hit |
SUPFAMi | SSF50249, SSF50249, 1 hit 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 PS50126, S1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DHX8_HUMAN | |
Accessioni | Q14562Primary (citable) accession number: Q14562 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | November 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 197 of the entry and version 1 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - 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 - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations