• Gene id: 7919

Gene Summary

• Gene Symbol: DDX39B   Gene   UCSC   Ensembl
• Aliases: BAT1, D6S81E, UAP56
• Gene name: DExD-box helicase 39B
• Alternate names: spliceosome RNA helicase DDX39B, 56 kDa U2AF65-associated protein, ATP-dependent RNA helicase p47, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B, DEAD-box helicase 39B, HLA-B-associated transcript 1 protein, nuclear RNA helicase (DEAD family), spliceosome RNA helic,
• Gene location: 6p21.33 (31542002: 31530225)     Exons: 11     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mR
• OMIM: 142560

Protein Summary

• Protein general information: Q13838  
  • Name: Spliceosome RNA helicase DDX39B (EC 3.6.4.13) (56 kDa U2AF65 associated protein) (ATP dependent RNA helicase p47) (DEAD box protein UAP56) (HLA B associated transcript 1 protein)
  • Length: 428  
  • Mass: 48991
• Sequence:

  MAENDVDNELLDYEDDEVETAAGGDGAEAPAKKDVKGSYVSIHSSGFRDFLLKPELLRAIVDCGFEHPSEVQHEC
  IPQAILGMDVLCQAKSGMGKTAVFVLATLQQLEPVTGQVSVLVMCHTRELAFQISKEYERFSKYMPNVKVAVFFG
  GLSIKKDEEVLKKNCPHIVVGTPGRILALARNKSLNLKHIKHFILDECDKMLEQLDMRRDVQEIFRMTPHEKQVM
  MFSATLSKEIRPVCRKFMQDPMEIFVDDETKLTLHGLQQYYVKLKDNEKNRKLFDLLDVLEFNQVVIFVKSVQRC
  IALAQLLVEQNFPAIAIHRGMPQEERLSRYQQFKDFQRRILVATNLFGRGMDIERVNIAFNYDMPEDSDTYLHRV
  ARAGRFGTKGLAITFVSDENDAKILNDVQDRFEVNISELPDEIDISSYIEQTR

• Structural information:
  • Protein Domains: (76..24-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (261..42-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR014014  
  • Prosite: PS51192 PS51194 PS51195
  • PDB: 1T5I 1T6N 1XTI 1XTJ 1XTK
  • PDBsum: 1T5I 1T6N 1XTI 1XTJ 1XTK
  • STRING: ENSP00000379475
• Other Databases: GeneCards:  DDX39B  Malacards:  DDX39B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0006406	mRNA export from nucleus	IBA	biological process
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0046784	viral mRNA export from host cell nucleus	IDA	biological process
GO:0008186	RNA-dependent ATPase activity	IDA	molecular function
GO:0006406	mRNA export from nucleus	IDA	biological process
GO:0005737	cytoplasm	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0000346	transcription export complex	IDA	cellular component
GO:0000346	transcription export complex	IDA	cellular component
GO:2000002	negative regulation of DNA damage checkpoint	IMP	biological process
GO:0032786	positive regulation of DNA-templated transcription, elongation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0016887	ATPase activity	EXP	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000573	positive regulation of DNA biosynthetic process	IEA	biological process
GO:0061051	positive regulation of cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IEA	biological process
GO:0045727	positive regulation of translation	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0017070	U6 snRNA binding	IDA	molecular function
GO:0030621	U4 snRNA binding	IDA	molecular function
GO:0043008	ATP-dependent protein binding	IDA	molecular function
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0005688	U6 snRNP	IDA	colocalizes with
GO:0000245	spliceosomal complex assembly	IDA	biological process
GO:0005687	U4 snRNP	IDA	colocalizes with
GO:0008380	RNA splicing	IDA	biological process
GO:0010501	RNA secondary structure unwinding	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0006406	mRNA export from nucleus	IGI	biological process
GO:0000398	mRNA splicing, via spliceosome	IGI	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03040	Spliceosome
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
type 1 diabetes mellitus	PMID:11756005
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881