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Protein

Probable ATP-dependent RNA helicase DDX4

Gene

DDX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable ATP-dependent RNA helicase required during spermatogenesis (PubMed:10920202, PubMed:21034600). Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the secondary piRNAs metabolic process, the production of piRNAs in fetal male germ cells through a ping-pong amplification cycle (By similarity).By similarity2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi332 – 339ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Helicase, Hydrolase

Keywords - Biological processi

Differentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152670-MONOMER.
BRENDAi3.6.4.13. 2681.
ReactomeiR-HSA-5601884. PIWI-interacting RNA (piRNA) biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DDX4 (EC:3.6.4.13)
Alternative name(s):
DEAD box protein 4
Vasa homolog
Gene namesi
Name:DDX4
Synonyms:VASA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:18700. DDX4.

Subcellular locationi

  • Cytoplasm By similarity
  • Cytoplasmperinuclear region By similarity

  • Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis.By similarity

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • perinuclear region of cytoplasm Source: GO_Central
  • P granule Source: GO_Central
  • pi-body Source: UniProtKB
  • piP-body Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi54514.
OpenTargetsiENSG00000152670.
PharmGKBiPA38646.

Polymorphism and mutation databases

BioMutaiDDX4.
DMDMi20138033.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000549771 – 724Probable ATP-dependent RNA helicase DDX4Add BLAST724

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei222PhosphoserineBy similarity1
Modified residuei226PhosphoserineBy similarity1
Modified residuei722PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NQI0.
MaxQBiQ9NQI0.
PaxDbiQ9NQI0.
PeptideAtlasiQ9NQI0.
PRIDEiQ9NQI0.

2D gel databases

REPRODUCTION-2DPAGEIPI00456933.

PTM databases

iPTMnetiQ9NQI0.
PhosphoSitePlusiQ9NQI0.

Expressioni

Tissue specificityi

Expressed only in ovary and testis. Expressed in migratory primordial germ cells in the region of the gonadal ridge in both sexes.1 Publication

Gene expression databases

BgeeiENSG00000152670.
CleanExiHS_DDX4.
ExpressionAtlasiQ9NQI0. baseline and differential.
GenevisibleiQ9NQI0. HS.

Organism-specific databases

HPAiCAB026170.
HPA037763.
HPA037764.

Interactioni

Subunit structurei

Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. N-terminus interacts with RANBP9. Interacts with PIWIL2 and MAEL. Interacts with ARNTL/BMAL1 and CLOCK.By similarity

Protein-protein interaction databases

BioGridi120009. 9 interactors.
IntActiQ9NQI0. 3 interactors.
MINTiMINT-3072085.
STRINGi9606.ENSP00000424838.

Structurei

3D structure databases

ProteinModelPortaliQ9NQI0.
SMRiQ9NQI0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini319 – 502Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST184
Domaini530 – 675Helicase C-terminalPROSITE-ProRule annotationAdd BLAST146

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi288 – 316Q motifAdd BLAST29
Motifi446 – 449DEAD box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi58 – 234Gly-richAdd BLAST177

Sequence similaritiesi

Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0335. Eukaryota.
ENOG410XNTI. LUCA.
GeneTreeiENSGT00770000120531.
HOGENOMiHOG000268804.
HOVERGENiHBG015893.
InParanoidiQ9NQI0.
KOiK13982.
OMAiMQSNSRN.
OrthoDBiEOG091G04U3.
PhylomeDBiQ9NQI0.
TreeFamiTF300364.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. 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.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00039. DEAD_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NQI0-1) [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
MGDEDWEAEI NPHMSSYVPI FEKDRYSGEN GDNFNRTPAS SSEMDDGPSR
60 70 80 90 100
RDHFMKSGFA SGRNFGNRDA GECNKRDNTS TMGGFGVGKS FGNRGFSNSR
110 120 130 140 150
FEDGDSSGFW RESSNDCEDN PTRNRGFSKR GGYRDGNNSE ASGPYRRGGR
160 170 180 190 200
GSFRGCRGGF GLGSPNNDLD PDECMQRTGG LFGSRRPVLS GTGNGDTSQS
210 220 230 240 250
RSGSGSERGG YKGLNEEVIT GSGKNSWKSE AEGGESSDTQ GPKVTYIPPP
260 270 280 290 300
PPEDEDSIFA HYQTGINFDK YDTILVEVSG HDAPPAILTF EEANLCQTLN
310 320 330 340 350
NNIAKAGYTK LTPVQKYSIP IILAGRDLMA CAQTGSGKTA AFLLPILAHM
360 370 380 390 400
MHDGITASRF KELQEPECII VAPTRELVNQ IYLEARKFSF GTCVRAVVIY
410 420 430 440 450
GGTQLGHSIR QIVQGCNILC ATPGRLMDII GKEKIGLKQI KYLVLDEADR
460 470 480 490 500
MLDMGFGPEM KKLISCPGMP SKEQRQTLMF SATFPEEIQR LAAEFLKSNY
510 520 530 540 550
LFVAVGQVGG ACRDVQQTVL QVGQFSKREK LVEILRNIGD ERTMVFVETK
560 570 580 590 600
KKADFIATFL CQEKISTTSI HGDREQRERE QALGDFRFGK CPVLVATSVA
610 620 630 640 650
ARGLDIENVQ HVINFDLPST IDEYVHRIGR TGRCGNTGRA ISFFDLESDN
660 670 680 690 700
HLAQPLVKVL TDAQQDVPAW LEEIAFSTYI PGFSGSTRGN VFASVDTRKG
710 720
KSTLNTAGFS SSQAPNPVDD ESWD
Length:724
Mass (Da):79,308
Last modified:January 23, 2002 - v2
Checksum:i6D313DD98B177067
GO
Isoform 2 (identifier: Q9NQI0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-166: GYRDGNNSEASGPYRRGGRGSFRGCRGGFGLGSPN → D

Note: No experimental confirmation available.
Show »
Length:690
Mass (Da):75,821
Checksum:i8D37259B5DED0EBD
GO
Isoform 3 (identifier: Q9NQI0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-111: MGDEDWEAEI...EDGDSSGFWR → MGSRNLFLTNSP
     132-166: GYRDGNNSEASGPYRRGGRGSFRGCRGGFGLGSPN → D
     209-225: GGYKGLNEEVITGSGKN → D

Note: No experimental confirmation available.
Show »
Length:575
Mass (Da):63,211
Checksum:i04F943C83BD71828
GO
Isoform 4 (identifier: Q9NQI0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     112-131: Missing.

Note: No experimental confirmation available. Gene prediction based on cDNA data.
Show »
Length:704
Mass (Da):77,056
Checksum:iA1A44F186461C9D6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti240Q → R in BAG52716 (PubMed:14702039).Curated1
Sequence conflicti380Q → K in AAH47455 (PubMed:15489334).Curated1
Sequence conflicti556I → T in AAF86585 (PubMed:10920202).Curated1
Sequence conflicti713Q → R in AAF86585 (PubMed:10920202).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019574148G → D.Corresponds to variant rs2306259dbSNPEnsembl.1
Natural variantiVAR_052159287I → V.Corresponds to variant rs2305123dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0461321 – 111MGDED…SGFWR → MGSRNLFLTNSP in isoform 3. 1 PublicationAdd BLAST111
Alternative sequenceiVSP_047177112 – 131Missing in isoform 4. CuratedAdd BLAST20
Alternative sequenceiVSP_011197132 – 166GYRDG…LGSPN → D in isoform 2 and isoform 3. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_046133209 – 225GGYKG…GSGKN → D in isoform 3. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY004154 mRNA. Translation: AAF86585.1.
AF262962 mRNA. Translation: AAF72705.1.
AK093439 mRNA. Translation: BAG52716.1.
AK292417 mRNA. Translation: BAF85106.1.
AC016632 Genomic DNA. No translation available.
CH471123 Genomic DNA. Translation: EAW54929.1.
BC047455 mRNA. Translation: AAH47455.1.
BC088362 mRNA. Translation: AAH88362.1.
AL137462 mRNA. Translation: CAB70750.1.
CCDSiCCDS3969.1. [Q9NQI0-1]
CCDS47208.1. [Q9NQI0-2]
CCDS54854.1. [Q9NQI0-4]
CCDS54855.1. [Q9NQI0-3]
PIRiT46407.
RefSeqiNP_001136021.1. NM_001142549.1. [Q9NQI0-2]
NP_001160005.1. NM_001166533.1. [Q9NQI0-4]
NP_001160006.1. NM_001166534.1. [Q9NQI0-3]
NP_077726.1. NM_024415.2. [Q9NQI0-1]
UniGeneiHs.223581.

Genome annotation databases

EnsembliENST00000353507; ENSP00000334167; ENSG00000152670. [Q9NQI0-2]
ENST00000354991; ENSP00000347087; ENSG00000152670. [Q9NQI0-2]
ENST00000505374; ENSP00000424838; ENSG00000152670. [Q9NQI0-1]
ENST00000511853; ENSP00000423123; ENSG00000152670. [Q9NQI0-3]
ENST00000514278; ENSP00000425359; ENSG00000152670. [Q9NQI0-4]
GeneIDi54514.
KEGGihsa:54514.
UCSCiuc003jqg.5. human. [Q9NQI0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY004154 mRNA. Translation: AAF86585.1.
AF262962 mRNA. Translation: AAF72705.1.
AK093439 mRNA. Translation: BAG52716.1.
AK292417 mRNA. Translation: BAF85106.1.
AC016632 Genomic DNA. No translation available.
CH471123 Genomic DNA. Translation: EAW54929.1.
BC047455 mRNA. Translation: AAH47455.1.
BC088362 mRNA. Translation: AAH88362.1.
AL137462 mRNA. Translation: CAB70750.1.
CCDSiCCDS3969.1. [Q9NQI0-1]
CCDS47208.1. [Q9NQI0-2]
CCDS54854.1. [Q9NQI0-4]
CCDS54855.1. [Q9NQI0-3]
PIRiT46407.
RefSeqiNP_001136021.1. NM_001142549.1. [Q9NQI0-2]
NP_001160005.1. NM_001166533.1. [Q9NQI0-4]
NP_001160006.1. NM_001166534.1. [Q9NQI0-3]
NP_077726.1. NM_024415.2. [Q9NQI0-1]
UniGeneiHs.223581.

3D structure databases

ProteinModelPortaliQ9NQI0.
SMRiQ9NQI0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120009. 9 interactors.
IntActiQ9NQI0. 3 interactors.
MINTiMINT-3072085.
STRINGi9606.ENSP00000424838.

PTM databases

iPTMnetiQ9NQI0.
PhosphoSitePlusiQ9NQI0.

Polymorphism and mutation databases

BioMutaiDDX4.
DMDMi20138033.

2D gel databases

REPRODUCTION-2DPAGEIPI00456933.

Proteomic databases

EPDiQ9NQI0.
MaxQBiQ9NQI0.
PaxDbiQ9NQI0.
PeptideAtlasiQ9NQI0.
PRIDEiQ9NQI0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353507; ENSP00000334167; ENSG00000152670. [Q9NQI0-2]
ENST00000354991; ENSP00000347087; ENSG00000152670. [Q9NQI0-2]
ENST00000505374; ENSP00000424838; ENSG00000152670. [Q9NQI0-1]
ENST00000511853; ENSP00000423123; ENSG00000152670. [Q9NQI0-3]
ENST00000514278; ENSP00000425359; ENSG00000152670. [Q9NQI0-4]
GeneIDi54514.
KEGGihsa:54514.
UCSCiuc003jqg.5. human. [Q9NQI0-1]

Organism-specific databases

CTDi54514.
DisGeNETi54514.
GeneCardsiDDX4.
HGNCiHGNC:18700. DDX4.
HPAiCAB026170.
HPA037763.
HPA037764.
MIMi605281. gene.
neXtProtiNX_Q9NQI0.
OpenTargetsiENSG00000152670.
PharmGKBiPA38646.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0335. Eukaryota.
ENOG410XNTI. LUCA.
GeneTreeiENSGT00770000120531.
HOGENOMiHOG000268804.
HOVERGENiHBG015893.
InParanoidiQ9NQI0.
KOiK13982.
OMAiMQSNSRN.
OrthoDBiEOG091G04U3.
PhylomeDBiQ9NQI0.
TreeFamiTF300364.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152670-MONOMER.
BRENDAi3.6.4.13. 2681.
ReactomeiR-HSA-5601884. PIWI-interacting RNA (piRNA) biogenesis.

Miscellaneous databases

GenomeRNAii54514.
PROiQ9NQI0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152670.
CleanExiHS_DDX4.
ExpressionAtlasiQ9NQI0. baseline and differential.
GenevisibleiQ9NQI0. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. 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.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00039. DEAD_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDDX4_HUMAN
AccessioniPrimary (citable) accession number: Q9NQI0
Secondary accession number(s): A8K8Q2
, B3KSF4, D6RDK4, E9PCD8, Q5M7Z3, Q86VX0, Q9NT92, Q9NYB1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: January 23, 2002
Last modified: November 2, 2016
This is version 147 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.