Reviewed, UniProtKB/Swiss-Prot Q9NQI0 (DDX4_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable ATP-dependent RNA helicase DDX4
    EC=3.6.1.-
Alternative name(s):
    DEAD box protein 4
    Vasa homolog

Gene names

Name:	DDX4
Synonyms:	VASA

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	724 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May play a role in germ cell development.
Subunit structure	N-terminus interacts with RANBP9. Interacts with PIWIL2 and MAEL By similarity.
Subcellular location	Cytoplasm. Ref.1
Tissue specificity	Expressed only in ovary and testis. Expressed in migratory primordial germ cells in the region of the gonadal ridge in both sexes. Ref.1
Sequence similarities	Belongs to the DEAD box helicase family. DDX4/VASA subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	ATP-binding Nucleotide-binding
Molecular function	Developmental protein Helicase Hydrolase
Gene Ontology (GO)
Biological process	multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent helicase activity Inferred from electronic annotation. Source: InterPro nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NQI0-1)

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.

Isoform 2 (identifier: Q9NQI0-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 724	724	Probable ATP-dependent RNA helicase DDX4		PRO_0000054977
Regions
	Domain	319 – 502	184	Helicase ATP-binding
	Domain	530 – 675	146	Helicase C-terminal
	Nucleotide binding	332 – 339	8	ATP By similarity
	Motif	288 – 316	29	Q motif
	Motif	446 – 449	4	DEAD box
	Compositional bias	58 – 234	177	Gly-rich
Natural variations
	Alternative sequence	132 – 166	35	GYRDG…LGSPN → D in isoform 2.		VSP_011197
	Natural variant	148	1	G → D: dbSNP rs2306259.		VAR_019574
	Natural variant	287	1	I → V: dbSNP rs2305123.		VAR_052159
Experimental info
	Sequence conflict	380	1	Q → K in AAH47455. Ref.3
	Sequence conflict	556	1	I → T in AAF86585. Ref.1
	Sequence conflict	713	1	Q → R in AAF86585. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2002. Version 2. Checksum: 6D313DD98B177067	FASTA	724	79,308
	10 20 30 40 50 60 MGDEDWEAEI NPHMSSYVPI FEKDRYSGEN GDNFNRTPAS SSEMDDGPSR RDHFMKSGFA 70 80 90 100 110 120 SGRNFGNRDA GECNKRDNTS TMGGFGVGKS FGNRGFSNSR FEDGDSSGFW RESSNDCEDN 130 140 150 160 170 180 PTRNRGFSKR GGYRDGNNSE ASGPYRRGGR GSFRGCRGGF GLGSPNNDLD PDECMQRTGG 190 200 210 220 230 240 LFGSRRPVLS GTGNGDTSQS RSGSGSERGG YKGLNEEVIT GSGKNSWKSE AEGGESSDTQ 250 260 270 280 290 300 GPKVTYIPPP PPEDEDSIFA HYQTGINFDK YDTILVEVSG HDAPPAILTF EEANLCQTLN 310 320 330 340 350 360 NNIAKAGYTK LTPVQKYSIP IILAGRDLMA CAQTGSGKTA AFLLPILAHM MHDGITASRF 370 380 390 400 410 420 KELQEPECII VAPTRELVNQ IYLEARKFSF GTCVRAVVIY GGTQLGHSIR QIVQGCNILC 430 440 450 460 470 480 ATPGRLMDII GKEKIGLKQI KYLVLDEADR MLDMGFGPEM KKLISCPGMP SKEQRQTLMF 490 500 510 520 530 540 SATFPEEIQR LAAEFLKSNY LFVAVGQVGG ACRDVQQTVL QVGQFSKREK LVEILRNIGD 550 560 570 580 590 600 ERTMVFVETK KKADFIATFL CQEKISTTSI HGDREQRERE QALGDFRFGK CPVLVATSVA 610 620 630 640 650 660 ARGLDIENVQ HVINFDLPST IDEYVHRIGR TGRCGNTGRA ISFFDLESDN HLAQPLVKVL 670 680 690 700 710 720 TDAQQDVPAW LEEIAFSTYI PGFSGSTRGN VFASVDTRKG KSTLNTAGFS SSQAPNPVDD ESWD
	Isoform 2. Checksum: 8D37259B5DED0EBD	FASTA	690	75,821
	10 20 30 40 50 60 MGDEDWEAEI NPHMSSYVPI FEKDRYSGEN GDNFNRTPAS SSEMDDGPSR RDHFMKSGFA 70 80 90 100 110 120 SGRNFGNRDA GECNKRDNTS TMGGFGVGKS FGNRGFSNSR FEDGDSSGFW RESSNDCEDN 130 140 150 160 170 180 PTRNRGFSKR GDNDLDPDEC MQRTGGLFGS RRPVLSGTGN GDTSQSRSGS GSERGGYKGL 190 200 210 220 230 240 NEEVITGSGK NSWKSEAEGG ESSDTQGPKV TYIPPPPPED EDSIFAHYQT GINFDKYDTI 250 260 270 280 290 300 LVEVSGHDAP PAILTFEEAN LCQTLNNNIA KAGYTKLTPV QKYSIPIILA GRDLMACAQT 310 320 330 340 350 360 GSGKTAAFLL PILAHMMHDG ITASRFKELQ EPECIIVAPT RELVNQIYLE ARKFSFGTCV 370 380 390 400 410 420 RAVVIYGGTQ LGHSIRQIVQ GCNILCATPG RLMDIIGKEK IGLKQIKYLV LDEADRMLDM 430 440 450 460 470 480 GFGPEMKKLI SCPGMPSKEQ RQTLMFSATF PEEIQRLAAE FLKSNYLFVA VGQVGGACRD 490 500 510 520 530 540 VQQTVLQVGQ FSKREKLVEI LRNIGDERTM VFVETKKKAD FIATFLCQEK ISTTSIHGDR 550 560 570 580 590 600 EQREREQALG DFRFGKCPVL VATSVAARGL DIENVQHVIN FDLPSTIDEY VHRIGRTGRC 610 620 630 640 650 660 GNTGRAISFF DLESDNHLAQ PLVKVLTDAQ QDVPAWLEEI AFSTYIPGFS GSTRGNVFAS 670 680 690 VDTRKGKSTL NTAGFSSSQA PNPVDDESWD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human VASA gene is specifically expressed in the germ cell lineage." Castrillon D.H., Quade B.J., Wang T.Y., Quigley C., Crum C.P. Proc. Natl. Acad. Sci. U.S.A. 97:9585-9590(2000) [PubMed: 10920202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Testis.
[2]	"Cloning and characterization of the human VASA gene." Rocha D., Affara N. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Testis.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-724 (ISOFORM 1). Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY004154 mRNA. Translation: AAF86585.1. AF262962 mRNA. Translation: AAF72705.1. BC047455 mRNA. Translation: AAH47455.1. BC088362 mRNA. Translation: AAH88362.1. AL137462 mRNA. Translation: CAB70750.1.
IPI	IPI00071483. IPI00456933.
PIR	T46407.
RefSeq	NP_001129506.1. NP_001136021.1. NP_077726.1.
UniGene	Hs.223581
3D structure databases
HSSP	HSSP built from PDB template 1HV8 based on UniProtKB Q58083.
ModBase	Search...
PTM databases
PhosphoSite	Q9NQI0.
2-D gel databases
REPRODUCTION-2DPAGE	IPI00456933.
Proteomic databases
PRIDE	Q9NQI0.
Genome annotation databases
Ensembl	ENSG00000152670. Homo sapiens. [Contig view]
GeneID	54514.
KEGG	hsa:54514.
Organism-specific databases
GeneCards	GC05P055069.
HGNC	HGNC:18700. DDX4.
MIM	605281. gene.
PharmGKB	PA38646.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9NQI0.
HOVERGEN	Q9NQI0.
OMA	Q9NQI0. GTCVRAV.
Gene expression databases
ArrayExpress	Q9NQI0.
Bgee	Q9NQI0.
CleanEx	HS_DDX4.
GermOnline	ENSG00000152670. Homo sapiens.
Family and domain databases
InterPro	IPR014001. DEAD-like_N. IPR001650. DNA/RNA_helicase_C. IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR014021. Helicase_SF1/SF2_ATP-bd. IPR000629. RNA-helicase_DEAD-box_CS. IPR014014. RNA_helicase_DEAD_Q_motif. [Graphical view]
Pfam	PF00270. DEAD. 1 hit. PF00271. Helicase_C. 1 hit. [Graphical view]
SMART	SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. [Graphical view]
PROSITE	PS00039. DEAD_ATP_HELICASE. 1 hit. PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. PS51195. Q_MOTIF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	56900.
SOURCE	Search...

Entry information

Entry name

DDX4_HUMAN

Accession

Primary (citable) accession number: Q9NQI0
Secondary accession number(s): Q5M7Z3 , Q86VX0, Q9NT92, Q9NYB1

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	January 23, 2002
Last modified:	June 16, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)