CIRSR (corepressor of RBPJ and splicing regulator)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 9541
• Gene name: Corepressor of RBPJ and splicing regulator
• Gene symbol: CIRSR
• Synonyms (NCBI Gene): CIR, CIR1, THE1B/CIR1
• Chromosome: 2
• Chromosome location: 2q31.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2200881	hsa-miR-1278	CLIP-seq
MIRT2200882	hsa-miR-1298	CLIP-seq
MIRT2200883	hsa-miR-4760-3p	CLIP-seq
MIRT2200884	hsa-miR-664	CLIP-seq

Gene ontology (GO) Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	9874765
GO:0001701	Process	In utero embryonic development	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	9874765
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	9874765, 15652350, 19409814, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9874765
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA	15652350
GO:0016607	Component	Nuclear speck	IEA
GO:0019901	Function	Protein kinase binding	IPI	20873783
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0042826	Function	Histone deacetylase binding	IDA	9874765
GO:0044877	Function	Protein-containing complex binding	IDA	9874765
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	9874765
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	9874765

Other IDs

• MIM: 605228
• HGNC: 24217
• e!Ensembl: ENSG00000138433

Protein

• UniProt ID: Q86X95
• Protein name: Corepressor interacting with RBPJ 1 (CBF1-interacting corepressor) (Recepin)
• Protein function: May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required for RBPJ-mediated repre
• PDB: 6ZYM , 8I0W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10197	Cir_N	13 → 49	N-terminal domain of CBF1 interacting co-repressor CIR	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, brain, placenta, liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:9874765}.
• Sequence:

  MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG
  DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG
  IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA
  LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR
  KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS
  GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR
  THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND
  SRSHGTDLYRGEKMYREHPGGTHTKVTQRE

• Sequence length: 450

Pathways

KEGG Pathway

Notch signaling pathway

Epstein-Barr virus infection

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	19584308		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12439606, 25144241, 27587543		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28561276		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11544614		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11544614		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	1861628		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30403573		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28246275		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28561276		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25144241, 27587543	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12439606, 25144241, 27587543		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8643076		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	28934732	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29459855		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for CIRSR.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to CIRSR.