• Gene id: 9541

Gene Summary

• Gene Symbol: CIR1   Gene   UCSC   Ensembl
• Aliases: CIR
• Gene name: corepressor interacting with RBPJ, CIR1
• Alternate names: corepressor interacting with RBPJ 1, CBF1 (RBPJ) interacting corepressor 1, CBF1-interacting corepressor, corepressor interacting with RBPJ, 1, recepin,
• Gene location: 2q31.1 (174395711: 174348021)     Exons: 10     NC_000002.12
• OMIM: 605228

Protein Summary

• Protein general information: Q86X95  
  • Name: Corepressor interacting with RBPJ 1 (CBF1 interacting corepressor) (Recepin)
  • Length: 450  
  • Mass: 52313
  • Tissue specificity: Highly expressed in heart, brain, placenta, liver, skeletal muscle and pancreas. {ECO
• Sequence:

  MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFMYEAP
  PGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSG
  INASSVPTDGSGPSMHPSELIAEMRNSGFALKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLL
  RKLDRLEKKKKKKDRKKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS
  GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSRTHKHSPEKRGSERKE
  GSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRNDSRSHGTDLYRGEKMYREHPGGTHTKVTQRE

• Structural information:
  • Interpro: IPR040014  IPR019339  
  • STRING: ENSP00000339723
• Other Databases: GeneCards:  CIR1  Malacards:  CIR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0042826	histone deacetylase binding	IDA	molecular function
GO:0016607	nuclear speck	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	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:0001701	in utero embryonic development	IEA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0005813	centrosome	IDA	colocalizes with
GO:0032991	protein-containing complex	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0019901	protein kinase 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

KEGG pathways

Pathway id	Pathway name
hsa05169	Epstein-Barr virus infection
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq