• Gene id: 8449

Gene Summary

• Gene Symbol: DHX16   Gene   UCSC   Ensembl
• Aliases: DBP2, DDX16, NMOAS, PRO2014, PRP8, PRPF2, Prp2
• Gene name: DEAH-box helicase 16
• Alternate names: pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16, ATP-dependent RNA helicase #3, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16, DEAD/H box 16, DEAH (Asp-Glu-Ala-His) box polypeptide 16, DEAH-box protein 16, RNA helicase, putative pre-mRNA-splicing fac,
• Gene location: 6p21.33 (30673052: 30653118)     Exons: 24     NC_000006.12
• 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

SNPs

rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

Protein Summary

• Protein general information: O60231  
  • Name: Pre mRNA splicing factor ATP dependent RNA helicase DHX16 (EC 3.6.4.13) (ATP dependent RNA helicase #3) (DEAH box protein 16)
  • Length: 1041  
  • Mass: 119264
• Sequence:

  MATPAGLERWVQDELHSVLGLSERHVAQFLIGTAQRCTSAEEFVQRLRDTDTLDLSGPARDFALRLWNKVPRKAV
  VEKPARAAEREARALLEKNRSYRLLEDSEESSEETVSRAGSSLQKKRKKRKHLRKKREEEEEEEASEKGKKKTGG
  SKQQTEKPESEDEWERTERERLQDLEERDAFAERVRQRDKDRTRNVLERSDKKAYEEAQKRLKMAEEDRKAMVPE
  LRKKSRREYLAKREREKLEDLEAELADEEFLFGDVELSRHERQELKYKRRVRDLAREYRAAGEQEKLEATNRYHM
  PKETRGQPARAVDLVEEESGAPGEEQRRWEEARLGAASLKFGARDAASQEPKYQLVLEEEETIEFVRATQLQGDE
  EPSAPPTSTQAQQKESIQAVRRSLPVFPFREELLAAIANHQVLIIEGETGSGKTTQIPQYLFEEGYTNKGMKIAC
  TQPRRVAAMSVAARVAREMGVKLGNEVGYSIRFEDCTSERTVLRYMTDGMLLREFLSEPDLASYSVVMVDEAHER
  TLHTDILFGLIKDVARFRPELKVLVASATMDTARFSTFFDDAPVFRIPGRRFPVDIFYTKAPEADYLEACVVSVL
  QIHVTQPPGDILVFLTGQEEIEAACEMLQDRCRRLGSKIRELLVLPIYANLPSDMQARIFQPTPPGARKVVVATN
  IAETSLTIEGIIYVLDPGFCKQKSYNPRTGMESLTVTPCSKASANQRAGRAGRVAAGKCFRLYTAWAYQHELEET
  TVPEIQRTSLGNVVLLLKSLGIHDLMHFDFLDPPPYETLLLALEQLYALGALNHLGELTTSGRKMAELPVDPMLS
  KMILASEKYSCSEEILTVAAMLSVNNSIFYRPKDKVVHADNARVNFFLPGGDHLVLLNVYTQWAESGYSSQWCYE
  NFVQFRSMRRARDVREQLEGLLERVEVGLSSCQGDYIRVRKAITAGYFYHTARLTRSGYRTVKQQQTVFIHPNSS
  LFEQQPRWLLYHELVLTTKEFMRQVLEIESSWLLEVAPHYYKAKELEDPHAKKMPKKIGKTREELG

• Structural information:
  • Protein Domains: (409..57-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (598..77-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR002464  IPR011709  IPR007502  IPR014001   IPR001650  IPR027417  
  • Prosite: PS00690 PS51192 PS51194
  • PDB: 5Z56 5Z57 5Z58 6FF7
  • PDBsum: 5Z56 5Z57 5Z58 6FF7
  • STRING: ENSP00000365625
• Other Databases: GeneCards:  DHX16  Malacards:  DHX16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IMP	biological process
GO:0000398	mRNA splicing, via spliceosome	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004386	helicase activity	IEA	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:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	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:0003724	RNA helicase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0008380	RNA splicing	TAS	biological process
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0016887	ATPase activity	EXP	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
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:0005654	nucleoplasm	TAS	cellular component
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:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray