• Gene id: 54514

Gene Summary

• Gene Symbol: DDX4   Gene   UCSC   Ensembl
• Aliases: VASA
• Gene name: DEAD-box helicase 4
• Alternate names: probable ATP-dependent RNA helicase DDX4, DEAD (Asp-Glu-Ala-Asp) box polypeptide 4, DEAD box protein 4, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4, vasa homolog,
• Gene location: 5q11.2 (135702111: 135691861)     Exons: 11     NC_000009.12
• Gene summary(Entrez): DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and m
• OMIM: 605281

Protein Summary

• Protein general information: Q9NQI0  
  • Name: Probable ATP dependent RNA helicase DDX4 (EC 3.6.4.13) (DEAD box protein 4) (Vasa homolog)
  • Length: 724  
  • Mass: 79,308
• Sequence:

  MGDEDWEAEINPHMSSYVPIFEKDRYSGENGDNFNRTPASSSEMDDGPSRRDHFMKSGFASGRNFGNRDAGECNK
  RDNTSTMGGFGVGKSFGNRGFSNSRFEDGDSSGFWRESSNDCEDNPTRNRGFSKRGGYRDGNNSEASGPYRRGGR
  GSFRGCRGGFGLGSPNNDLDPDECMQRTGGLFGSRRPVLSGTGNGDTSQSRSGSGSERGGYKGLNEEVITGSGKN
  SWKSEAEGGESSDTQGPKVTYIPPPPPEDEDSIFAHYQTGINFDKYDTILVEVSGHDAPPAILTFEEANLCQTLN
  NNIAKAGYTKLTPVQKYSIPIILAGRDLMACAQTGSGKTAAFLLPILAHMMHDGITASRFKELQEPECIIVAPTR
  ELVNQIYLEARKFSFGTCVRAVVIYGGTQLGHSIRQIVQGCNILCATPGRLMDIIGKEKIGLKQIKYLVLDEADR
  MLDMGFGPEMKKLISCPGMPSKEQRQTLMFSATFPEEIQRLAAEFLKSNYLFVAVGQVGGACRDVQQTVLQVGQF
  SKREKLVEILRNIGDERTMVFVETKKKADFIATFLCQEKISTTSIHGDREQREREQALGDFRFGKCPVLVATSVA
  ARGLDIENVQHVINFDLPSTIDEYVHRIGRTGRCGNTGRAISFFDLESDNHLAQPLVKVLTDAQQDVPAWLEEIA
  FSTYIPGFSGSTRGNVFASVDTRKGKSTLNTAGFSSSQAPNPVDDESWD

• Structural information:
  • Protein Domains: Helicase (319-502)
    Helicase (530-675)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • CDD: cd00079
  • STRING: ENSP00000424838
• Other Databases: GeneCards:  DDX4  Malacards:  DDX4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0004004	ATP-dependent RNA helicase activity	IBA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0007140	male meiosis	ISS	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0010501	RNA secondary structure unwinding	IBA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0071546	pi-body	ISS	cellular component
GO:0071547	piP-body	ISS	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0004004	ATP-dependent RNA helicase activity	IBA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007140	male meiosis	ISS	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0010501	RNA secondary structure unwinding	IBA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0071546	pi-body	ISS	cellular component
GO:0071547	piP-body	ISS	cellular component
GO:0004004	ATP-dependent RNA helicase activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0007140	male meiosis	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0010501	RNA secondary structure unwinding	IBA	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0071546	pi-body	ISS	cellular component
GO:0071547	piP-body	ISS	cellular component

Diseases

Associated diseases	References
Obesity	INFBASE: 26166341
Female infertility	INFBASE: 26156856
Polycystic ovary syndrome (PCOS)	INFBASE: 26190535
Maturation arrest	MIK: 19629140
Sperm motility	MIK: 21034600
Male factor infertility	MIK: 17486274
Male factor infertility	MIK: 21034600
Oligozoospermia	MIK: 17486274
Spermatogenesis defects	MIK: 26139570
Spermatogenesis defects	MIK: 26139570
Oligozoospermia	MIK: 19629140
Azoospermia	MIK: 20508065
Non obstructive azoospermia	MIK: 22286264
Cryptorchidism	MIK: 22223142
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatic motility	MIK: 21034600
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Azoospermia	MIK: 20508065
Cryptorchidism	MIK: 22223142
Asthenozoospermia	MIK: 21034600
Oligozoospermia	MIK: 19629140
Maturation arrest	MIK: 19629140
Non obstructive azoospermia	MIK: 28000927
Male infertility	MIK: 28000927
Obstructive azoospermia (OA)	MIK: 22286264
Hypospermatogenesis	MIK: 28342926
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20508065	Azoospermia				Male infertility
22286264	Non-obstructive azoospermia (NOA), obstructive azoospermia (OA)			68 (39 patients with NOA (8 men with maturation arrest (MA), 3 men with incomplete sertoli cell only (iSCO) syndrome, 28 men with complete SCO (cSCO)), 29 patient with OA (8 men with congenital bilateral absence of the vas deferens (CBAVD), 21 men with n	Male infertility
26139570	Spermatogenic failure	DMRT1 (rs144122237, rs376518776, rs34946058, rs200423545)	Portuge se	599 (223 NOA patients, 376 controls )	Male infertility
22223142	Cryptorchidism			22 (18 cryptorchid, 4 control testes)	Male infertility	DDX4
19629140	idiopathic azoospermia, severe oligospermia, maturation arrest			131 male patients with idiopathic azoospermia or severe oligospermia	Male infertility	VASA
17486274	Oligospermia				Male infertility	VASA
21034600	Idiopathic asthenozoospermia			151 (114 patients with idiopathic asthenozoospermia, 37 fertile men with normal spermiograms )	Male Infertility	DDX4 VASA
21034600	Idiopathic asthenozoospermia			151 (114 patients with idiopathic asthenozoospermia, 37 fertile men with normal spermiograms )	Male Infertility	DDX4 VASA
21034600	Associated with spermatic motility			151 (114 asthenozoospermia, 37 normal)	Male infertility
28000927	Non obstructive azoospermia, Male infertility			67 (39 azoospermic males, 28 normospermic fertile males)	Male infertility
28342926	Nonobstructive azoospermia and hypospermatogenesis			100 patients with nonobstructive azoospermia and HS and 8 patients with obstructive azoospermia and normal spermatogenesis	Male infertility	NGS (CpG methylation)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray