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UniProtKB - Q9UHI6 (DDX20_HUMAN)

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Protein

Probable ATP-dependent RNA helicase DDX20

Gene

DDX20

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

Functioni

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei84ATP; via carbonyl oxygen1
Binding sitei89ATP1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi109 – 114ATP6

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent RNA helicase activity Source: ProtInc
  • DNA binding Source: UniProtKB-KW
  • histone deacetylase binding Source: Ensembl
  • protein binding, bridging Source: Ensembl
  • protein domain specific binding Source: Ensembl
  • repressing transcription factor binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • import into nucleus Source: Reactome
  • negative regulation of cell proliferation Source: Ensembl
  • negative regulation of transcription by RNA polymerase II Source: BHF-UCL
  • oogenesis Source: Ensembl
  • positive regulation of apoptotic process Source: MGI
  • regulation of steroid biosynthetic process Source: Ensembl
  • RNA processing Source: ProtInc
  • RNA secondary structure unwinding Source: GO_Central
  • spliceosomal snRNP assembly Source: UniProtKB
  • spliceosomal tri-snRNP complex assembly Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly
SIGNORiQ9UHI6

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DDX20 (EC:3.6.4.13)
Alternative name(s):
Component of gems 3
DEAD box protein 20
DEAD box protein DP 103
Gemin-3
Gene namesi
Name:DDX20
Synonyms:DP103, GEMIN3
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 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000064703.11
HGNCiHGNC:2743 DDX20
MIMi606168 gene
neXtProtiNX_Q9UHI6

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

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi11218
OpenTargetsiENSG00000064703
PharmGKBiPA27209

Polymorphism and mutation databases

BioMutaiDDX20
DMDMi12643886

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000550251 – 824Probable ATP-dependent RNA helicase DDX20Add BLAST824

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei48PhosphoserineCombined sources1
Modified residuei187PhosphoserineCombined sources1
Modified residuei268PhosphoserineCombined sources1
Modified residuei269PhosphoserineCombined sources1
Modified residuei500PhosphoserineCombined sources1
Modified residuei505PhosphoserineCombined sources1
Modified residuei532PhosphoserineCombined sources1
Modified residuei552PhosphothreonineCombined sources1
Modified residuei560PhosphoserineCombined sources1
Modified residuei652PhosphoserineCombined sources1
Modified residuei654PhosphoserineCombined sources1
Modified residuei656PhosphoserineCombined sources1
Modified residuei672PhosphoserineCombined sources1
Modified residuei677PhosphoserineCombined sources1
Modified residuei678PhosphoserineCombined sources1
Modified residuei688PhosphothreonineCombined sources1
Modified residuei703PhosphoserineCombined sources1
Modified residuei705PhosphothreonineCombined sources1
Modified residuei714PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UHI6
PaxDbiQ9UHI6
PeptideAtlasiQ9UHI6
PRIDEiQ9UHI6
ProteomicsDBi84357

PTM databases

iPTMnetiQ9UHI6
PhosphoSitePlusiQ9UHI6

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000064703
CleanExiHS_DDX20
ExpressionAtlasiQ9UHI6 baseline and differential
GenevisibleiQ9UHI6 HS

Organism-specific databases

HPAiCAB015427
HPA005516

Interactioni

Subunit structurei

Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN5. Interacts directly with SNUPN. Interacts with PPP4R2. Interacts with FOXL2. Interacts with EBV EBNA2 and EBNA3C. Interacts with NANOS1 and PUM2.8 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi116387, 89 interactors
CORUMiQ9UHI6
DIPiDIP-32606N
IntActiQ9UHI6, 49 interactors
MINTiQ9UHI6
STRINGi9606.ENSP00000358716

Structurei

Secondary structure

1824
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi64 – 67Combined sources4
Helixi71 – 79Combined sources9
Helixi87 – 97Combined sources11
Beta strandi102 – 105Combined sources4
Helixi112 – 123Combined sources12
Beta strandi133 – 136Combined sources4
Helixi140 – 153Combined sources14
Turni154 – 156Combined sources3
Beta strandi162 – 165Combined sources4
Helixi171 – 177Combined sources7
Beta strandi182 – 186Combined sources5
Helixi188 – 196Combined sources9
Helixi202 – 204Combined sources3
Beta strandi207 – 212Combined sources6
Helixi213 – 217Combined sources5
Helixi223 – 232Combined sources10
Beta strandi238 – 244Combined sources7
Helixi248 – 254Combined sources7
Turni255 – 257Combined sources3
Beta strandi262 – 264Combined sources3

3D structure databases

ProteinModelPortaliQ9UHI6
SMRiQ9UHI6
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHI6

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini93 – 264Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST172
Domaini299 – 448Helicase C-terminalPROSITE-ProRule annotationAdd BLAST150

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni456 – 548SMN interactingAdd BLAST93

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi62 – 90Q motifAdd BLAST29
Motifi211 – 214DEAD box4

Sequence similaritiesi

Belongs to the DEAD box helicase family. DDX20 subfamily.Curated

Phylogenomic databases

eggNOGiKOG4284 Eukaryota
COG0513 LUCA
GeneTreeiENSGT00830000128348
HOGENOMiHOG000112184
HOVERGENiHBG051330
InParanoidiQ9UHI6
KOiK13131
OMAiQDYEEYW
OrthoDBiEOG091G0461
PhylomeDBiQ9UHI6
TreeFamiTF352222

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR000629 RNA-helicase_DEAD-box_CS
IPR014014 RNA_helicase_DEAD_Q_motif
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00039 DEAD_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51195 Q_MOTIF, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UHI6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAFEASGA LAAVATAMPA EHVAVQVPAP EPTPGPVRIL RTAQDLSSPR 
        60         70         80         90        100
TRTGDVLLAE PADFESLLLS RPVLEGLRAA GFERPSPVQL KAIPLGRCGL 
       110        120        130        140        150
DLIVQAKSGT GKTCVFSTIA LDSLVLENLS TQILILAPTR EIAVQIHSVI 
       160        170        180        190        200
TAIGIKMEGL ECHVFIGGTP LSQDKTRLKK CHIAVGSPGR IKQLIELDYL 
       210        220        230        240        250
NPGSIRLFIL DEADKLLEEG SFQEQINWIY SSLPASKQML AVSATYPEFL 
       260        270        280        290        300
ANALTKYMRD PTFVRLNSSD PSLIGLKQYY KVVNSYPLAH KVFEEKTQHL 
       310        320        330        340        350
QELFSRIPFN QALVFSNLHS RAQHLADILS SKGFPAECIS GNMNQNQRLD 
       360        370        380        390        400
AMAKLKHFHC RVLISTDLTS RGIDAEKVNL VVNLDVPLDW ETYMHRIGRA 
       410        420        430        440        450
GRFGTLGLTV TYCCRGEEEN MMMRIAQKCN INLLPLPDPI PSGLMEECVD 
       460        470        480        490        500
WDVEVKAAVH TYGIASVPNQ PLKKQIQKIE RTLQIQKAHG DHMASSRNNS 
       510        520        530        540        550
VSGLSVKSKN NTKQKLPVKS HSECGIIEKA TSPKELGCDR QSEEQMKNSV 
       560        570        580        590        600
QTPVENSTNS QHQVKEALPV SLPQIPCLSS FKIHQPYTLT FAELVEDYEH 
       610        620        630        640        650
YIKEGLEKPV EIIRHYTGPG DQTVNPQNGF VRNKVIEQRV PVLASSSQSG 
       660        670        680        690        700
DSESDSDSYS SRTSSQSKGN KSYLEGSSDN QLKDSESTPV DDRISLEQPP 
       710        720        730        740        750
NGSDTPNPEK YQESPGIQMK TRLKEGASQR AKQSRRNLPR RSSFRLQTEA 
       760        770        780        790        800
QEDDWYDCHR EIRLSFSDTY QDYEEYWRAY YRAWQEYYAA ASHSYYWNAQ 
       810        820 
RHPSWMAAYH MNTIYLQEMM HSNQ
Length:824
Mass (Da):92,241
Last modified:December 1, 2000 - v2
Checksum:i76712F014B2A0CF2
GO
Isoform 2 (identifier: Q9UHI6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-138: ILILAP → AELSNS
     139-824: Missing.

Note: No experimental confirmation available.
Show »
Length:138
Mass (Da):14,272
Checksum:iA3075B1CEE1AF15C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5F → V in AAD42744 (PubMed:10383418).Curated1
Sequence conflicti279Y → C in BAA91727 (PubMed:14702039).Curated1
Sequence conflicti639R → K in AAF14544 (PubMed:10601333).Curated1
Sequence conflicti659Y → H in AAD42744 (PubMed:10383418).Curated1
Sequence conflicti676G → S in AAF14544 (PubMed:10601333).Curated1
Sequence conflicti703S → T in AAF14544 (PubMed:10601333).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057231636I → T1 PublicationCorresponds to variant dbSNP:rs197412Ensembl.1
Natural variantiVAR_057232693R → S. Corresponds to variant dbSNP:rs197414Ensembl.1
Natural variantiVAR_057233762I → T. Corresponds to variant dbSNP:rs85276Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056505133 – 138ILILAP → AELSNS in isoform 2. 1 Publication6
Alternative sequenceiVSP_056506139 – 824Missing in isoform 2. 1 PublicationAdd BLAST686

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF171063 mRNA Translation: AAF14544.1
AF106019 mRNA Translation: AAD42744.1
AK001506 mRNA Translation: BAA91727.1
AK301697 mRNA Translation: BAG63169.1
AL049557 Genomic DNA No translation available.
BC011556 mRNA Translation: AAH11556.1
AL133598 mRNA Translation: CAB63734.2
CCDSiCCDS842.1 [Q9UHI6-1]
PIRiT43476
RefSeqiNP_009135.4, NM_007204.4 [Q9UHI6-1]
UniGeneiHs.591405

Genome annotation databases

EnsembliENST00000369702; ENSP00000358716; ENSG00000064703 [Q9UHI6-1]
ENST00000533164; ENSP00000434085; ENSG00000064703 [Q9UHI6-2]
GeneIDi11218
KEGGihsa:11218
UCSCiuc001ebs.4 human [Q9UHI6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDDX20_HUMAN
AccessioniPrimary (citable) accession number: Q9UHI6
Secondary accession number(s): B4DWV7
, Q96F72, Q9NVM3, Q9UF59, Q9UIY0, Q9Y659
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: July 18, 2018
This is version 199 of the entry and version 2 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 1
    Human chromosome 1: 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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