• Gene id: 58509

Gene Summary

• Gene Symbol: CACTIN   Gene   UCSC   Ensembl
• Aliases: C19orf29, NY-REN-24, fSAPc
• Gene name: cactin, spliceosome C complex subunit
• Alternate names: cactin, NY REN 24 antigen, functional spliceosome-associated protein c, renal carcinoma antigen NY-REN-24,
• Gene location: 19p13.3 (3626814: 3610644)     Exons: 11     NC_000019.10
• OMIM: 616826

Protein Summary

• Protein general information: Q8WUQ7  
  • Name: Cactin (Renal carcinoma antigen NY REN 24)
  • Length: 758  
  • Mass: 88702
• Sequence:

  MGRDTRSRSRSAGRRGRRRQSQSGSRSRSRSHGRRNRRRREDEGRRRRRRRSRERRSDSEEERWQRSGMRSRSPP
  RPKWHSRDGSSQSDSGEEQSRGQWARRRRRARSWSPSSSASSSASPGRSQSPRAAAAALSQQQSLQERLRLREER
  KQQEELMKAFETPEEKRARRLAKKEAKERKKREKMGWGEEYMGYTNTDNPFGDNNLLGTFIWNKALEKKGISHLE
  EKELKERNKRIQEDNRLELQKVKQLRLEREREKAMREQELEMLQREKEAEHFKTWEEQEDNFHLQQAKLRSKIRI
  RDGRAKPIDLLAKYISAEDDDLAVEMHEPYTFLNGLTVADMEDLLEDIQVYMELEQGKNADFWRDMTTITEDEIS
  KLRKLEASGKGPGERREGVNASVSSDVQSVFKGKTYNQLQVIFQGIEGKIRAGGPNLDMGYWESLLQQLRAHMAR
  ARLRERHQDVLRQKLYKLKQEQGVESEPLFPILKQEPQSPSRSLEPEDAAPTPPGPSSEGGPAEAEVDGATPTEG
  DGDGDGEGEGEGEAVLMEEDLIQQSLDDYDAGRYSPRLLTAHELPLDAHVLEPDEDLQRLQLSRQQLQVTGDASE
  SAEDIFFRRAKEGMGQDEAQFSVEMPLTGKAYLWADKYRPRKPRFFNRVHTGFEWNKYNQTHYDFDNPPPKIVQG
  YKFNIFYPDLIDKRSTPEYFLEACADNKDFAILRFHAGPPYEDIAFKIVNREWEYSHRHGFRCQFANGIFQLWFH
  FKRYRYRR

• Structural information:
  • Interpro: IPR019134  IPR018816  
  • PDB: 6QDV
  • PDBsum: 6QDV
  • STRING: ENSP00000415078
• Other Databases: GeneCards:  CACTIN  Malacards:  CACTIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0045824	negative regulation of innate immune response	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0045292	mRNA cis splicing, via spliceosome	IBA	biological process
GO:0071356	cellular response to tumor necrosis factor	IDA	biological process
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0032720	negative regulation of tumor necrosis factor production	IDA	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0071347	cellular response to interleukin-1	IDA	biological process
GO:0034122	negative regulation of toll-like receptor signaling pathway	IDA	biological process
GO:0032717	negative regulation of interleukin-8 production	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0031665	negative regulation of lipopolysaccharide-mediated signaling pathway	IMP	biological process
GO:0001933	negative regulation of protein phosphorylation	IMP	biological process
GO:0060339	negative regulation of type I interferon-mediated signaling pathway	IMP	biological process
GO:0032688	negative regulation of interferon-beta production	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq