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Aliases for CIR1 Gene

Aliases for CIR1 Gene

  • Corepressor Interacting With RBPJ, 1 2 3 5
  • Recepin 2 3 4
  • CBF1-Interacting Corepressor 3 4
  • CIR 3 4
  • Corepressor Interacting With RBPJ 1 3
  • CBF1 Interacting Corepressor 2

External Ids for CIR1 Gene

Previous GeneCards Identifiers for CIR1 Gene

  • GC02M174922
  • GC02M175212
  • GC02M167093

Summaries for CIR1 Gene

GeneCards Summary for CIR1 Gene

CIR1 (Corepressor Interacting With RBPJ, 1) is a Protein Coding gene. Among its related pathways are Notch signaling pathway (KEGG) and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcription corepressor activity.

UniProtKB/Swiss-Prot for CIR1 Gene

  • 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 repression of transcription.

Gene Wiki entry for CIR1 Gene

Additional gene information for CIR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIR1 Gene

Genomics for CIR1 Gene

GeneHancer (GH) Regulatory Elements for CIR1 Gene

Promoters and enhancers for CIR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J174394 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.1 -54 2.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SCRN3 CIR1 GPR155
GH02J174439 Promoter 0.7 EPDnew 650.3 -44.3 -44304 0.1 MEIS2 PKNOX1 CIR1 SCRN3 GPR155
GH02J173961 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 +431.3 431290 6.7 ZFP64 DMAP1 YY1 E2F8 ZNF143 ZNF263 SP3 NFYC ZNF610 GLIS1 SP3 CIR1 ENSG00000271151 ENSG00000224638 GC02P173913
GH02J174246 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.4 +147.6 147592 2.6 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 OLA1 SP3 ENSG00000271151 CIR1 SP9 RN7SL65P
GH02J174585 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.5 -197.9 -197900 17 HDGF ATF1 PKNOX1 CLOCK FOXA2 SMAD1 SIN3A FEZF1 IRF4 YY1 WIPF1 CIR1 GPR155 ENSG00000237798 ENSG00000236449 GC02P174645
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CIR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CIR1 Gene

Genomic Locations for CIR1 Gene
chr2:174,348,022-174,395,715
(GRCh38/hg38)
Size:
47,694 bases
Orientation:
Minus strand
chr2:175,212,750-175,260,443
(GRCh37/hg19)
Size:
47,694 bases
Orientation:
Minus strand

Genomic View for CIR1 Gene

Genes around CIR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CIR1 Gene

Proteins for CIR1 Gene

  • Protein details for CIR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86X95-CIR1_HUMAN
    Recommended name:
    Corepressor interacting with RBPJ 1
    Protein Accession:
    Q86X95
    Secondary Accessions:
    • A6NFI6
    • A8K8M4
    • O95367
    • Q12804
    • Q4G1B9
    • Q6PJI4
    • Q8IWI2

    Protein attributes for CIR1 Gene

    Size:
    450 amino acids
    Molecular mass:
    52313 Da
    Quaternary structure:
    • Interacts with RP9, SNW1, SFRS1, SFRS2,U2AF1, RBPJ, SAP30, HDAC2 NKAP and NEK6. Interacts with Epstein-Barr virus RPMS1. Component of the histone deacetylase complex. Component of the Notch corepressor complex. Interacts with NKAPL (By similarity).
    SequenceCaution:
    • Sequence=AAA17853.1; Type=Frameshift; Positions=135, 151, 177, 203, 261, 299, 391, 410; Evidence={ECO:0000305}; Sequence=AAH21175.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH38987.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for CIR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIR1 Gene

Post-translational modifications for CIR1 Gene

Other Protein References for CIR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CIR1 Gene

Domains & Families for CIR1 Gene

Gene Families for CIR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CIR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CIR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CIR1: view

No data available for UniProtKB/Swiss-Prot for CIR1 Gene

Function for CIR1 Gene

Molecular function for CIR1 Gene

UniProtKB/Swiss-Prot 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 repression of transcription.

Phenotypes From GWAS Catalog for CIR1 Gene

Gene Ontology (GO) - Molecular Function for CIR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity TAS 9874765
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding TAS 18663143
GO:0003714 transcription corepressor activity TAS 9874765
GO:0005515 protein binding IPI 9874765
GO:0019901 protein kinase binding IPI 20873783
genes like me logo Genes that share ontologies with CIR1: view
genes like me logo Genes that share phenotypes with CIR1: view

Animal Models for CIR1 Gene

MGI Knock Outs for CIR1:
  • Cir1 Cir1<tm3a(KOMP)Wtsi>

miRNA for CIR1 Gene

miRTarBase miRNAs that target CIR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CIR1 Gene

Localization for CIR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CIR1 Gene

Nucleus speckle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with NEK6 in the centrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CIR1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CIR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 colocalizes_with histone deacetylase complex IDA 9874765
GO:0005634 nucleus IDA,IEA 9874765
GO:0005737 cytoplasm IEA --
GO:0005813 colocalizes_with centrosome IDA 20873783
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CIR1: view

Pathways & Interactions for CIR1 Gene

genes like me logo Genes that share pathways with CIR1: view

Pathways by source for CIR1 Gene

1 BioSystems pathway for CIR1 Gene
1 KEGG pathway for CIR1 Gene
1 R&D Systems pathway for CIR1 Gene

SIGNOR curated interactions for CIR1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CIR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with CIR1: view

Drugs & Compounds for CIR1 Gene

No Compound Related Data Available

Transcripts for CIR1 Gene

mRNA/cDNA for CIR1 Gene

Unigene Clusters for CIR1 Gene

Corepressor interacting with RBPJ, 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CIR1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for CIR1 Gene

GeneLoc Exon Structure for
CIR1
ECgene alternative splicing isoforms for
CIR1

Expression for CIR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CIR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CIR1 Gene

This gene is overexpressed in Cerebrospinal fluid (66.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CIR1 Gene



Protein tissue co-expression partners for CIR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CIR1 Gene:

CIR1

SOURCE GeneReport for Unigene cluster for CIR1 Gene:

Hs.632531

mRNA Expression by UniProt/SwissProt for CIR1 Gene:

Q86X95-CIR1_HUMAN
Tissue specificity: Highly expressed in heart, brain, placenta, liver, skeletal muscle and pancreas.

Evidence on tissue expression from TISSUES for CIR1 Gene

  • Liver(4.2)
  • Eye(4)
  • Lung(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with CIR1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CIR1 Gene

Orthologs for CIR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CIR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CIR1 34 33
  • 99.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cir1 16 34 33
  • 91 (n)
dog
(Canis familiaris)
Mammalia CIR1 33
  • 87.75 (n)
cow
(Bos Taurus)
Mammalia CIR1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CIR1 34
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cir1 33
  • 75.62 (n)
oppossum
(Monodelphis domestica)
Mammalia CIR1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CIR1 34 33
  • 75.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CIR1 34
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22070 33
zebrafish
(Danio rerio)
Actinopterygii CIR1 34
  • 84 (a)
OneToOne
si:ch73-167c12.2 33
  • 76.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6843 34
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cir-1 34
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGT1 36
Species where no ortholog for CIR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CIR1 Gene

ENSEMBL:
Gene Tree for CIR1 (if available)
TreeFam:
Gene Tree for CIR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CIR1: view image

Paralogs for CIR1 Gene

(10) SIMAP similar genes for CIR1 Gene using alignment to 2 proteins:

  • CIR1_HUMAN
  • H3BLY3_HUMAN

Pseudogenes.org Pseudogenes for CIR1 Gene

genes like me logo Genes that share paralogs with CIR1: view

No data available for Paralogs for CIR1 Gene

Variants for CIR1 Gene

Sequence variations from dbSNP and Humsavar for CIR1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000022845 -- 174,375,880(-) A/T intron_variant
rs1000053905 -- 174,396,494(-) G/A upstream_transcript_variant
rs1000054265 -- 174,372,503(-) A/C intron_variant
rs1000070744 -- 174,365,440(-) A/C intron_variant
rs1000265773 -- 174,393,236(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CIR1 Gene

Variant ID Type Subtype PubMed ID
esv3584179 CNV loss 25503493

Variation tolerance for CIR1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CIR1 Gene

Human Gene Mutation Database (HGMD)
CIR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIR1 Gene

Disorders for CIR1 Gene

Additional Disease Information for CIR1

No disorders were found for CIR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CIR1 Gene

Publications for CIR1 Gene

  1. Epstein-Barr virus BamHi-a rightward transcript-encoded RPMS protein interacts with the CBF1-associated corepressor CIR to negatively regulate the activity of EBNA2 and NotchIC. (PMID: 11222720) Zhang J … Hayward SD (Journal of virology 2001) 2 3 4 58
  2. CIR, a corepressor linking the DNA binding factor CBF1 to the histone deacetylase complex. (PMID: 9874765) Hsieh JJ … Hayward SD (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 58
  3. Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. (PMID: 20873783) Vaz Meirelles G … Kobarg J (Journal of proteome research 2010) 3 4 58
  4. NKAP is a transcriptional repressor of notch signaling and is required for T cell development. (PMID: 19409814) Pajerowski AG … Shapiro VS (Immunity 2009) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for CIR1 Gene

Sources for CIR1 Gene

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