• Gene id: 6499

Gene Summary

• Gene Symbol: SKIV2L   Gene   UCSC   Ensembl
• Aliases: 170A, DDX13, HLP, SKI2, SKI2W, SKIV2, SKIV2L1, THES2
• Gene name: Ski2 like RNA helicase
• Alternate names: helicase SKI2W, SKI2 homolog, superkiller viralicidic activity 2-like, helicase-like protein, superkiller viralicidic activity 2-like,
• Gene location: 6p21.33 (31959156: 31969851)     Exons: 28     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
• OMIM: 610138

Protein Summary

• Protein general information: Q15477  
  • Name: Helicase SKI2W (Ski2) (EC 3.6.4. ) (Helicase like protein) (HLP)
  • Length: 1246  
  • Mass: 137755
• Sequence:

  MMETERLVLPPPDPLDLPLRAVELGCTGHWELLNLPGAPESSLPHGLPPCAPDLQQEAEQLFLSSPAWLPLHGVE
  HSARKWQRKTDPWSLLAVLGAPVPSDLQAQRHPTTGQILGYKEVLLENTNLSATTSLSLRRPPGPASQSLWGNPT
  QYPFWPGGMDEPTITDLNTREEAEEEIDFEKDLLTIPPGFKKGMDFAPKDCPTPAPGLLSLSCMLEPLDLGGGDE
  DENEAVGQPGGPRGDTVSASPCSAPLARASSLEDLVLKEASTAVSTPEAPEPPSQEQWAIPVDATSPVGDFYRLI
  PQPAFQWAFEPDVFQKQAILHLERHDSVFVAAHTSAGKTVVAEYAIALAQKHMTRTIYTSPIKALSNQKFRDFRN
  TFGDVGLLTGDVQLHPEASCLIMTTEILRSMLYSGSDVIRDLEWVIFDEVHYINDVERGVVWEEVLIMLPDHVSI
  ILLSATVPNALEFADWIGRLKRRQIYVISTVTRPVPLEHYLFTGNSSKTQGELFLLLDSRGAFHTKGYYAAVEAK
  KERMSKHAQTFGAKQPTHQGGPAQDRGVYLSLLASLRTRAQLPVVVFTFSRGRCDEQASGLTSLDLTTSSEKSEI
  HLFLQRCLARLRGSDRQLPQVLHMSELLNRGLGVHHSGILPILKEIVEMLFSRGLVKVLFATETFAMGVNMPART
  VVFDSMRKHDGSTFRDLLPGEYVQMAGRAGRRGLDPTGTVILLCKGRVPEMADLHRMMMGKPSQLQSQFRLTYTM
  ILNLLRVDALRVEDMMKRSFSEFPSRKDSKAHEQALAELTKRLGALEEPDMTGQLVDLPEYYSWGEELTETQHMI
  QRRIMESVNGLKSLSAGRVVVVKNQEHHNALGVILQVSSNSTSRVFTTLVLCDKPLSQDPQDRGPATAEVPYPDD
  LVGFKLFLPEGPCDHTVVKLQPGDMAAITTKVLRVNGEKILEDFSKRQQPKFKKDPPLAAVTTAVQELLRLAQAH
  PAGPPTLDPVNDLQLKDMSVVEGGLRARKLEELIQGAQCVHSPRFPAQYLKLRERMQIQKEMERLRFLLSDQSLL
  LLPEYHQRVEVLRTLGYVDEAGTVKLAGRVACAMSSHELLLTELMFDNALSTLRPEEIAALLSGLVCQSPGDAGD
  QLPNTLKQGIERVRAVAKRIGEVQVACGLNQTVEEFVGELNFGLVEVVYEWARGMPFSELAGLSGTPEGLVVRCI
  QRLAEMCRSLRGAARLVGEPVLGAKMETAATLLRRDIVFAASLYTQ

• Structural information:
  • Protein Domains: (319..47-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (585..75-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR025696   IPR016438  IPR012961  IPR040801  
  • Prosite: PS51192 PS51194
  • STRING: ENSP00000364543
• Other Databases: GeneCards:  SKIV2L  Malacards:  SKIV2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006401	RNA catabolic process	IBA	biological process
GO:0070478	nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay	IBA	biological process
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0055087	Ski complex	IBA	cellular component
GO:0055087	Ski complex	IDA	cellular component
GO:0006401	RNA catabolic process	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003724	RNA helicase activity	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:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0043928	exonucleolytic catabolism of deadenylated mRNA	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Tricho-hepato-enteric syndrome	KEGG:H01805
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881