UniProtKB - Q9H0S4 (DDX47_HUMAN)
Protein
Probable ATP-dependent RNA helicase DDX47
Gene
DDX47
Organism
Homo sapiens (Human)
Status
Functioni
Involved in apoptosis. May have a role in rRNA processing and mRNA splicing. Associates with pre-rRNA precursors.2 Publications
Catalytic activityi
- EC:3.6.4.13
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 68 – 75 | ATP | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- RNA binding Source: UniProtKB
- RNA helicase activity Source: UniProtKB-EC
GO - Biological processi
- extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
- mRNA processing Source: UniProtKB-KW
- RNA splicing Source: UniProtKB
- rRNA processing Source: UniProtKB
Keywordsi
Molecular function | Helicase, Hydrolase, RNA-binding |
Biological process | Apoptosis, mRNA processing, mRNA splicing, rRNA processing |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9H0S4 |
Reactomei | R-HSA-6790901, rRNA modification in the nucleus and cytosol R-HSA-6791226, Major pathway of rRNA processing in the nucleolus and cytosol |
Names & Taxonomyi
Protein namesi | Recommended name: Probable ATP-dependent RNA helicase DDX47 (EC:3.6.4.13)Alternative name(s): DEAD box protein 47 |
Gene namesi | Name:DDX47 |
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:18682, DDX47 |
MIMi | 615428, gene |
neXtProti | NX_Q9H0S4 |
VEuPathDBi | HostDB:ENSG00000213782.7 |
Subcellular locationi
Nucleus
- nucleolus 2 Publications
Note: Localizes in the nucleolar-organizing region during ribosome biogenesis.
Nucleus
- nucleolus Source: UniProtKB
- nucleoplasm Source: Reactome
- nucleus Source: GO_Central
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000213782 |
PharmGKBi | PA134918403 |
Miscellaneous databases
Pharosi | Q9H0S4, Tbio |
Genetic variation databases
BioMutai | DDX47 |
DMDMi | 52782792 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources1 Publication | |||
ChainiPRO_0000055050 | 2 – 455 | Probable ATP-dependent RNA helicase DDX47Add BLAST | 454 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources1 Publication | 1 | |
Modified residuei | 9 | PhosphoserineCombined sources | 1 | |
Modified residuei | 149 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 424 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9H0S4 |
jPOSTi | Q9H0S4 |
MassIVEi | Q9H0S4 |
MaxQBi | Q9H0S4 |
PaxDbi | Q9H0S4 |
PeptideAtlasi | Q9H0S4 |
PRIDEi | Q9H0S4 |
ProteomicsDBi | 33835 80322 [Q9H0S4-1] |
2D gel databases
SWISS-2DPAGEi | Q9H0S4 |
PTM databases
iPTMneti | Q9H0S4 |
MetOSitei | Q9H0S4 |
PhosphoSitePlusi | Q9H0S4 |
SwissPalmi | Q9H0S4 |
Expressioni
Tissue specificityi
Expressed in skin, lung and breast. Also expressed in the brain.1 Publication
Gene expression databases
Bgeei | ENSG00000213782, Expressed in ectocervix and 117 other tissues |
ExpressionAtlasi | Q9H0S4, baseline and differential |
Genevisiblei | Q9H0S4, HS |
Organism-specific databases
HPAi | ENSG00000213782, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with AGO1 and AGO2.
Interacts with GABARAP.
Interacts with NOL8; the interaction is RNA-dependent.
4 PublicationsBinary interactionsi
Q9H0S4
With | #Exp. | IntAct |
---|---|---|
GABARAP [O95166] | 3 | EBI-2515241,EBI-712001 |
Protein-protein interaction databases
BioGRIDi | 119375, 112 interactors |
IntActi | Q9H0S4, 48 interactors |
MINTi | Q9H0S4 |
STRINGi | 9606.ENSP00000350698 |
Miscellaneous databases
RNActi | Q9H0S4, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9H0S4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9H0S4 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 55 – 226 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 172 | |
Domaini | 237 – 397 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 161 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 24 – 52 | Q motifAdd BLAST | 29 | |
Motifi | 174 – 177 | DEAD box | 4 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0330, Eukaryota |
GeneTreei | ENSGT00940000155774 |
HOGENOMi | CLU_003041_1_1_1 |
InParanoidi | Q9H0S4 |
OMAi | AMARRYM |
PhylomeDBi | Q9H0S4 |
TreeFami | TF105714 |
Family and domain databases
InterProi | View 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 |
Pfami | View protein in Pfam PF00270, DEAD, 1 hit PF00271, Helicase_C, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View 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 |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9H0S4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAPEEHDSP TEASQPIVEE EETKTFKDLG VTDVLCEACD QLGWTKPTKI
60 70 80 90 100
QIEAIPLALQ GRDIIGLAET GSGKTGAFAL PILNALLETP QRLFALVLTP
110 120 130 140 150
TRELAFQISE QFEALGSSIG VQSAVIVGGI DSMSQSLALA KKPHIIIATP
160 170 180 190 200
GRLIDHLENT KGFNLRALKY LVMDEADRIL NMDFETEVDK ILKVIPRDRK
210 220 230 240 250
TFLFSATMTK KVQKLQRAAL KNPVKCAVSS KYQTVEKLQQ YYIFIPSKFK
260 270 280 290 300
DTYLVYILNE LAGNSFMIFC STCNNTQRTA LLLRNLGFTA IPLHGQMSQS
310 320 330 340 350
KRLGSLNKFK AKARSILLAT DVASRGLDIP HVDVVVNFDI PTHSKDYIHR
360 370 380 390 400
VGRTARAGRS GKAITFVTQY DVELFQRIEH LIGKKLPGFP TQDDEVMMLT
410 420 430 440 450
ERVAEAQRFA RMELREHGEK KKRSREDAGD NDDTEGAIGV RNKVAGGKMK
KRKGR
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF5H1N9 | F5H1N9_HUMAN | RNA helicase | DDX47 | 196 | Annotation score: |
Sequence cautioni
The sequence AAF23354 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 55 | I → V in BAB70762 (PubMed:16541075).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083613 | 8 | D → Y Found in a patient with a neurodevelopmental disorder; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs577622688Ensembl. | 1 | |
Natural variantiVAR_083614 | 107 | Q → E Found in a patient with a neurodevelopmental disorder; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045239 | 251 – 299 | Missing in isoform 2. 1 PublicationAdd BLAST | 49 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136666 mRNA Translation: CAB66601.1 AK054574 mRNA Translation: BAB70762.1 AK127712 mRNA Translation: BAG54556.1 AC007215 Genomic DNA No translation available. CH471094 Genomic DNA Translation: EAW96277.1 CH471094 Genomic DNA Translation: EAW96283.1 BC009379 mRNA Translation: AAH09379.2 BC068009 mRNA Translation: AAH68009.1 AF078843 mRNA Translation: AAF23354.1 Different initiation. |
CCDSi | CCDS8655.1 [Q9H0S4-1] CCDS8656.1 [Q9H0S4-2] |
RefSeqi | NP_057439.2, NM_016355.3 [Q9H0S4-1] NP_957518.1, NM_201224.1 [Q9H0S4-2] |
Genome annotation databases
Ensembli | ENST00000352940; ENSP00000319578; ENSG00000213782 [Q9H0S4-2] ENST00000358007; ENSP00000350698; ENSG00000213782 [Q9H0S4-1] |
GeneIDi | 51202 |
KEGGi | hsa:51202 |
UCSCi | uc001rax.4, human [Q9H0S4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136666 mRNA Translation: CAB66601.1 AK054574 mRNA Translation: BAB70762.1 AK127712 mRNA Translation: BAG54556.1 AC007215 Genomic DNA No translation available. CH471094 Genomic DNA Translation: EAW96277.1 CH471094 Genomic DNA Translation: EAW96283.1 BC009379 mRNA Translation: AAH09379.2 BC068009 mRNA Translation: AAH68009.1 AF078843 mRNA Translation: AAF23354.1 Different initiation. |
CCDSi | CCDS8655.1 [Q9H0S4-1] CCDS8656.1 [Q9H0S4-2] |
RefSeqi | NP_057439.2, NM_016355.3 [Q9H0S4-1] NP_957518.1, NM_201224.1 [Q9H0S4-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3BER | X-ray | 1.40 | A | 5-230 | [»] | |
SMRi | Q9H0S4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119375, 112 interactors |
IntActi | Q9H0S4, 48 interactors |
MINTi | Q9H0S4 |
STRINGi | 9606.ENSP00000350698 |
PTM databases
iPTMneti | Q9H0S4 |
MetOSitei | Q9H0S4 |
PhosphoSitePlusi | Q9H0S4 |
SwissPalmi | Q9H0S4 |
Genetic variation databases
BioMutai | DDX47 |
DMDMi | 52782792 |
2D gel databases
SWISS-2DPAGEi | Q9H0S4 |
Proteomic databases
EPDi | Q9H0S4 |
jPOSTi | Q9H0S4 |
MassIVEi | Q9H0S4 |
MaxQBi | Q9H0S4 |
PaxDbi | Q9H0S4 |
PeptideAtlasi | Q9H0S4 |
PRIDEi | Q9H0S4 |
ProteomicsDBi | 33835 80322 [Q9H0S4-1] |
Protocols and materials databases
Antibodypediai | 3114, 191 antibodies |
DNASUi | 51202 |
Genome annotation databases
Ensembli | ENST00000352940; ENSP00000319578; ENSG00000213782 [Q9H0S4-2] ENST00000358007; ENSP00000350698; ENSG00000213782 [Q9H0S4-1] |
GeneIDi | 51202 |
KEGGi | hsa:51202 |
UCSCi | uc001rax.4, human [Q9H0S4-1] |
Organism-specific databases
CTDi | 51202 |
GeneCardsi | DDX47 |
HGNCi | HGNC:18682, DDX47 |
HPAi | ENSG00000213782, Low tissue specificity |
MIMi | 615428, gene |
neXtProti | NX_Q9H0S4 |
OpenTargetsi | ENSG00000213782 |
PharmGKBi | PA134918403 |
VEuPathDBi | HostDB:ENSG00000213782.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0330, Eukaryota |
GeneTreei | ENSGT00940000155774 |
HOGENOMi | CLU_003041_1_1_1 |
InParanoidi | Q9H0S4 |
OMAi | AMARRYM |
PhylomeDBi | Q9H0S4 |
TreeFami | TF105714 |
Enzyme and pathway databases
PathwayCommonsi | Q9H0S4 |
Reactomei | R-HSA-6790901, rRNA modification in the nucleus and cytosol R-HSA-6791226, Major pathway of rRNA processing in the nucleolus and cytosol |
Miscellaneous databases
BioGRID-ORCSi | 51202, 762 hits in 990 CRISPR screens |
ChiTaRSi | DDX47, human |
EvolutionaryTracei | Q9H0S4 |
GeneWikii | DDX47 |
GenomeRNAii | 51202 |
Pharosi | Q9H0S4, Tbio |
PROi | PR:Q9H0S4 |
RNActi | Q9H0S4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000213782, Expressed in ectocervix and 117 other tissues |
ExpressionAtlasi | Q9H0S4, baseline and differential |
Genevisiblei | Q9H0S4, HS |
Family and domain databases
InterProi | View 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 |
Pfami | View protein in Pfam PF00270, DEAD, 1 hit PF00271, Helicase_C, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DDX47_HUMAN | |
Accessioni | Q9H0S4Primary (citable) accession number: Q9H0S4 Secondary accession number(s): B3KXP4 Q9UI98 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 27, 2004 |
Last sequence update: | March 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 179 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: 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