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    CIR1 corepressor interacting with RBPJ, CIR1 [ Homo sapiens (human) ]

    Gene ID: 9541, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CIR1provided by HGNC
    Official Full Name
    corepressor interacting with RBPJ, CIR1provided by HGNC
    Primary source
    HGNC:HGNC:24217
    See related
    Ensembl:ENSG00000138433 MIM:605228; AllianceGenome:HGNC:24217
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CIR
    Summary
    Enables histone deacetylase binding activity; protein kinase binding activity; and transcription corepressor activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nuclear speck. Part of protein-containing complex. Colocalizes with centrosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 20.7), testis (RPKM 18.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q31.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (174348022..174395712, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (174836713..174884400, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (175212750..175260440, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:175190859-175191676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175193313-175194128 Neighboring gene VISTA enhancer hs860 Neighboring gene long intergenic non-protein coding RNA 1305 Neighboring gene uncharacterized LOC102724194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12125 Neighboring gene VISTA enhancer hs953 Neighboring gene Sharpr-MPRA regulatory region 8106 Neighboring gene Sp9 transcription factor Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175256788-175256952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175260886-175261386 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:175274337-175274938 Neighboring gene secernin 3 Neighboring gene G protein-coupled receptor 155 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175351272-175351454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12126

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    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. Zhang J, et al. J Virol, 2001 Mar. PMID 11222720, Free PMC Article
    2. Polymorphisms in cancer-related pathway genes and lung cancer. Lee SY, et al. Eur Respir J, 2016 Oct. PMID 27587543
    3. Human herpesvirus 8 LANA interacts with proteins of the mSin3 corepressor complex and negatively regulates Epstein-Barr virus gene expression in dually infected PEL cells. Krithivas A, et al. J Virol, 2000 Oct. PMID 11000236, Free PMC Article
    4. NKAP is a transcriptional repressor of notch signaling and is required for T cell development. Pajerowski AG, et al. Immunity, 2009 May. PMID 19409814, Free PMC Article
    5. Nuclear localization of CBF1 is regulated by interactions with the SMRT corepressor complex. Zhou S, et al. Mol Cell Biol, 2001 Sep. PMID 11509665, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone deacetylase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    corepressor interacting with RBPJ 1
    Names
    CBF1 (RBPJ) interacting corepressor 1
    CBF1-interacting corepressor
    corepressor interacting with RBPJ, 1
    recepin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004882.4 → NP_004873.3  corepressor interacting with RBPJ 1

      See identical proteins and their annotated locations for NP_004873.3

      Status: VALIDATED

      Source sequence(s)
      AC018470, BC015040, BC046098, BU596189
      Consensus CDS
      CCDS2256.1
      UniProtKB/Swiss-Prot
      A6NFI6, A8K8M4, O95367, Q12804, Q4G1B9, Q6PJI4, Q86X95, Q8IWI2
      UniProtKB/TrEMBL
      A0PJI7
      Related
      ENSP00000339723.3, ENST00000342016.8
      Conserved Domains (1) summary
      pfam10197
      Location:13 → 49
      Cir_N; N-terminal domain of CBF1 interacting co-repressor CIR

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      174348022..174395712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      174836713..174884400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199075.1: Suppressed sequence

      Description
      NM_199075.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X95.1 GenPept UniProtKB/Swiss-Prot:Q86X95

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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