• Gene id: 22894

Gene Summary

• Gene Symbol: DIS3   Gene   UCSC   Ensembl
• Aliases: 2810028N01Rik, EXOSC11, KIAA1008, RRP44, dis3p
• Gene name: DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
• Alternate names: exosome complex exonuclease RRP44, DIS3 exosome endoribonuclease and 3'-5' exoribonuclease, DIS3 mitotic control homolog, exosome component 11, mitotic control protein dis3 homolog, ribosomal RNA-processing protein 44,
• Gene location: 13q21.33 (72781899: 72752168)     Exons: 22     NC_000013.11
• OMIM: 607533

Protein Summary

• Protein general information: Q9Y2L1  
  • Name: Exosome complex exonuclease RRP44 (EC 3.1.13. ) (EC 3.1.26. ) (Protein DIS3 homolog) (Ribosomal RNA processing protein 44)
  • Length: 958  
  • Mass: 109003
  • Tissue specificity: Widely expressed.
• Sequence:

  MLKSKTFLKKTRAGGVMKIVREHYLRDDIGCGAPGCAACGGAHEGPALEPQPQDPASSVCPQPHYLLPDTNVLLH
  QIDVLEDPAIRNVIVLQTVLQEVRNRSAPVYKRIRDVTNNQEKHFYTFTNEHHRETYVEQEQGENANDRNDRAIR
  VAAKWYNEHLKKMSADNQLQVIFITNDRRNKEKAIEEGIPAFTCEEYVKSLTANPELIDRLACLSEEGNEIESGK
  IIFSEHLPLSKLQQGIKSGTYLQGTFRASRENYLEATVWIHGDNEENKEIILQGLKHLNRAVHEDIVAVELLPKS
  QWVAPSSVVLHDEGQNEEDVEKEEETERMLKTAVSEKMLKPTGRVVGIIKRNWRPYCGMLSKSDIKESRRHLFTP
  ADKRIPRIRIETRQASTLEGRRIIVAIDGWPRNSRYPNGHFVRNLGDVGEKETETEVLLLEHDVPHQPFSQAVLS
  FLPKMPWSITEKDMKNREDLRHLCICSVDPPGCTDIDDALHCRELENGNLEVGVHIADVSHFIRPGNALDQESAR
  RGTTVYLCEKRIDMVPELLSSNLCSLKCDVDRLAFSCIWEMNHNAEILKTKFTKSVINSKASLTYAEAQLRIDSA
  NMNDDITTSLRGLNKLAKILKKRRIEKGALTLSSPEVRFHMDSETHDPIDLQTKELRETNSMVEEFMLLANISVA
  KKIHEEFSEHALLRKHPAPPPSNYEILVKAARSRNLEIKTDTAKSLAESLDQAESPTFPYLNTLLRILATRCMMQ
  AVYFCSGMDNDFHHYGLASPIYTHFTSPIRRYADVIVHRLLAVAIGADCTYPELTDKHKLADICKNLNFRHKMAQ
  YAQRASVAFHTQLFFKSKGIVSEEAYILFVRKNAIVVLIPKYGLEGTVFFEEKDKPNPQLIYDDEIPSLKIEDTV
  FHVFDKVKVKIMLDSSNLQHQKIRMSLVEPQIPGISIPTDTSNMDLNGPKKKKMKLGK

• Structural information:
  • Protein Domains: (64..18-)
    (/note="PINc"-)
  • Interpro: IPR041505  IPR012340  IPR029060  IPR002716  IPR001900   IPR022966  IPR033771  IPR033770  
  • Prosite: PS01175
  • PDB: 6D6Q 6D6R 6H25
  • PDBsum: 6D6Q 6D6R 6H25
  • STRING: ENSP00000366997
• Other Databases: GeneCards:  DIS3  Malacards:  DIS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004519	endonuclease activity	IBA	molecular function
GO:0000178	exosome (RNase complex)	IBA	cellular component
GO:0000177	cytoplasmic exosome (RNase complex)	IBA	cellular component
GO:0000176	nuclear exosome (RNase complex)	IBA	cellular component
GO:0016075	rRNA catabolic process	IBA	biological process
GO:0000175	3'-5'-exoribonuclease activity	IBA	molecular function
GO:0071034	CUT catabolic process	IMP	biological process
GO:0016075	rRNA catabolic process	IMP	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0004540	ribonuclease activity	IEA	molecular function
GO:0000178	exosome (RNase complex)	IEA	cellular component
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	TAS	molecular function
GO:0043928	exonucleolytic catabolism of deadenylated mRNA	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043488	regulation of mRNA stability	TAS	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: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:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0005730	nucleolus	IDA	NOT|cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0000176	nuclear exosome (RNase complex)	IDA	cellular component
GO:0004519	endonuclease activity	IMP	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0000178	exosome (RNase complex)	TAS	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0000175	3'-5'-exoribonuclease activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)