• Gene id: 26512

Gene Summary

• Gene Symbol: INTS6   Gene   UCSC   Ensembl
• Aliases: DBI-1, DDX26, DDX26A, DICE1, HDB, INT6, Notchl2
• Gene name: integrator complex subunit 6
• Alternate names: integrator complex subunit 6, DEAD box protein, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26, RNA helicase HDB, protein deleted in cancer 1,
• Gene location: 13q14.3 (51453332: 51353170)     Exons: 22     NC_000013.11
• Gene summary(Entrez): DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is inv
• OMIM: 604331

Protein Summary

• Protein general information: Q9UL03  
  • Name: Integrator complex subunit 6 (Int6) (DBI 1) (Protein DDX26) (Protein deleted in cancer 1) (DICE1)
  • Length: 887  
  • Mass: 100390
  • Tissue specificity: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MPILLFLIDTSASMNQRSHLGTTYLDTAKGAVETFMKLRARDPASRGDRYMLVTFEEPPYAIKAGWKENHATFMN
  ELKNLQAEGLTTLGQSLRTAFDLLNLNRLVTGIDNYGQGRNPFFLEPAIIITITDGSKLTTTSGVQDELHLPLNS
  PLPGSELTKEPFRWDQRLFALVLRLPGTMSVESEQLTGVPLDDSAITPMCEVTGGRSYSVCSPRMLNQCLESLVQ
  KVQSGVVINFEKAGPDPSPVEDGQPDISRPFGSQPWHSCHKLIYVRPNPKTGVPIGHWPVPESFWPDQNSPTLPP
  RTSHPVVKFSCTDCEPMVIDKLPFDKYELEPSPLTQFILERKSPQTCWQVYVSNSAKYSELGHPFGYLKASTALN
  CVNLFVMPYNYPVLLPLLDDLFKVHKAKPTLKWRQSFESYLKTMPPYYLGPLKKAVRMMGAPNLIADSMEYGLSY
  SVISYLKKLSQQAKIESDRVIGSVGKKVVQETGIKVRSRSHGLSMAYRKDFQQLLQGISEDVPHRLLDLNMKEYT
  GFQVALLNKDLKPQTFRNAYDIPRRNLLDHLTRMRSNLLKSTRRFLKGQDEDQVHSVPIAQMGNYQEYLKQVPSP
  LRELDPDQPRRLHTFGNPFKLDKKGMMIDEADEFVAGPQNKHKRPGEPNMQGIPKRRRCMSPLLRGRQQNPVVNN
  HIGGKGPPAPTTQAQPDLIKPLPLHKISETTNDSIIHDVVENHVADQLSSDITPNAMDTEFSASSPASLLERPTN
  HMEALGHDHLGTNDLTVGGFLENHEEPRDKEQCAEENIPASSLNKGKKLMHCRSHEEVNTELKAQIMKEIRKPGR
  KYERIFTLLKHVQGSLQTRLIFLQNVIKEASRFKKRMLIEQLENFLDEIHRRANQINHINSN

• Structural information:
  • Protein Domains: (3..22-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR029307  IPR002035  IPR036465  
  • Prosite: PS50234
  • DIP: 38627
  • STRING: ENSP00000310260
• Other Databases: GeneCards:  INTS6  Malacards:  INTS6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032039	integrator complex	IDA	cellular component
GO:0016180	snRNA processing	IDA	biological process
GO:0032039	integrator complex	IBA	cellular component
GO:0034472	snRNA 3'-end processing	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004888	transmembrane signaling receptor activity	TAS	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:0042795	snRNA transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray