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UniProtKB - Q14562 (DHX8_HUMAN)

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Protein

ATP-dependent RNA helicase DHX8

Gene

DHX8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi588 – 595ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent RNA helicase activity Source: ProtInc
  • identical protein binding Source: IntAct
  • RNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • mRNA splicing, via spliceosome Source: UniProtKB
  • RNA processing Source: ProtInc
  • RNA splicing Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHelicase, Hydrolase
Biological processmRNA processing, mRNA splicing
LigandATP-binding, Nucleotide-binding

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000067596.10
HGNCiHGNC:2749 DHX8
MIMi600396 gene
neXtProtiNX_Q14562

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi594K → E in GET; inhibition of pre-mRNA splicing and nuclear export of unspliced RNA. 1
Mutagenesisi717S → L in LAT; inhibition of pre-mRNA splicing and nuclear export of unspliced RNA. 1

Organism-specific databases

OpenTargetsiENSG00000067596
PharmGKBiPA27231

Polymorphism and mutation databases

BioMutaiDHX8
DMDMi3023637

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000551311 – 1220ATP-dependent RNA helicase DHX8Add BLAST1220

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki140Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei395PhosphoserineCombined sources1
Cross-linki399Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei460PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ14562
MaxQBiQ14562
PaxDbiQ14562
PeptideAtlasiQ14562
PRIDEiQ14562
ProteomicsDBi60044

PTM databases

iPTMnetiQ14562
PhosphoSitePlusiQ14562

Expressioni

Gene expression databases

BgeeiENSG00000067596
CleanExiHS_DHX8
ExpressionAtlasiQ14562 baseline and differential
GenevisibleiQ14562 HS

Organism-specific databases

HPAiHPA049285

Interactioni

Subunit structurei

Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:28076346). Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation (PubMed:16820410).4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108024, 88 interactors
CORUMiQ14562
IntActiQ14562, 28 interactors
MINTiQ14562
STRINGi9606.ENSP00000262415

Structurei

Secondary structure

11220
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi267 – 275Combined sources9
Beta strandi280 – 284Combined sources5
Beta strandi286 – 289Combined sources4
Beta strandi292 – 295Combined sources4
Helixi297 – 299Combined sources3
Beta strandi301 – 304Combined sources4
Helixi309 – 312Combined sources4
Beta strandi318 – 327Combined sources10
Beta strandi330 – 335Combined sources6
Turni340 – 342Combined sources3
Helixi950 – 963Combined sources14
Helixi975 – 980Combined sources6
Helixi987 – 998Combined sources12
Helixi1002 – 1012Combined sources11
Helixi1022 – 1024Combined sources3
Helixi1025 – 1033Combined sources9
Helixi1041 – 1054Combined sources14
Turni1055 – 1057Combined sources3
Helixi1059 – 1064Combined sources6
Helixi1069 – 1088Combined sources20
Helixi1101 – 1111Combined sources11
Helixi1112 – 1114Combined sources3
Beta strandi1115 – 1118Combined sources4
Beta strandi1120 – 1126Combined sources7
Turni1127 – 1129Combined sources3
Beta strandi1132 – 1135Combined sources4
Turni1140 – 1143Combined sources4
Beta strandi1147 – 1167Combined sources21
Helixi1170 – 1176Combined sources7
Turni1178 – 1180Combined sources3

3D structure databases

ProteinModelPortaliQ14562
SMRiQ14562
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14562

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini265 – 336S1 motifPROSITE-ProRule annotationAdd BLAST72
Domaini575 – 738Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST164
Domaini756 – 936Helicase C-terminalPROSITE-ProRule annotationAdd BLAST181

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi685 – 688DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi172 – 175Poly-Lys4
Compositional biasi176 – 228Arg/Ser-rich (RS domain)Add BLAST53

Domaini

The RS domain confers a nuclear localization signal, and appears to facilitate the interaction with the spliceosome.

Sequence similaritiesi

Belongs to the DEAD box helicase family. DEAH subfamily. DDX8/PRP22 sub-subfamily.Curated

Phylogenomic databases

eggNOGiKOG0922 Eukaryota
COG1185 LUCA
COG1643 LUCA
GeneTreeiENSGT00910000144017
HOGENOMiHOG000175261
HOVERGENiHBG039428
InParanoidiQ14562
KOiK12818
OMAiIQKAICS
OrthoDBiEOG091G030Q
PhylomeDBiQ14562
TreeFamiTF300509

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF04408 HA2, 1 hit
PF00271 Helicase_C, 1 hit
PF07717 OB_NTP_bind, 1 hit
PF00575 S1, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00847 HA2, 1 hit
SM00490 HELICc, 1 hit
SM00316 S1, 1 hit
SUPFAMiSSF50249 SSF50249, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView 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

Sequencei

Sequence statusi: Complete.

Q14562-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:1,220
Mass (Da):139,315
Last modified:November 1, 1996 - v1
Checksum:i17C1602A73A0EF24
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0521741069A → G. Corresponds to variant dbSNP:rs34285079Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D50487 mRNA Translation: BAA09078.1
CCDSiCCDS11464.1
PIRiA56236
RefSeqiNP_001289552.1, NM_001302623.1
NP_004932.1, NM_004941.2
UniGeneiHs.463105

Genome annotation databases

EnsembliENST00000262415; ENSP00000262415; ENSG00000067596
GeneIDi1659
KEGGihsa:1659
UCSCiuc002idu.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDHX8_HUMAN
AccessioniPrimary (citable) accession number: Q14562
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: June 20, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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