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    C1D C1D nuclear receptor corepressor [ Homo sapiens (human) ]

    Gene ID: 10438, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1Dprovided by HGNC
    Official Full Name
    C1D nuclear receptor corepressorprovided by HGNC
    Primary source
    HGNC:HGNC:29911
    See related
    Ensembl:ENSG00000197223 MIM:606997; AllianceGenome:HGNC:29911
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LRP1; hC1D; Rrp47; SUNCOR; SUN-CoR
    Summary
    The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.9), adrenal (RPKM 15.5) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See C1D in Genome Data Viewer
    Location:
    2p14
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68041130..68063004, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68051683..68073563, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68268262..68290136, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:68035929-68037128 Neighboring gene long intergenic non-protein coding RNA 1812 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:68146782-68147981 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:68222082-68222296 Neighboring gene FBXL12 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:68289704-68290903 Neighboring gene uncharacterized LOC105374789 Neighboring gene small integral membrane protein 30-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel Rac3-interacting protein C1D. Haataja L, et al. Int J Mol Med, 1998 Apr. PMID 9852280
    2. Induction of apoptosis by overexpression of the DNA-binding and DNA-PK-activating protein C1D. Rothbarth K, et al. J Cell Sci, 1999 Jul. PMID 10362552
    3. Proteasome-mediated degradation antagonizes critical levels of the apoptosis-inducing C1D protein. Rothbarth K, et al. Cancer Cell Int, 2002 Sep 2. PMID 12379155, Free PMC Article
    4. C1D is a major autoantibody target in patients with the polymyositis-scleroderma overlap syndrome. Schilders G, et al. Arthritis Rheum, 2007 Jul. PMID 17599775
    5. Promoter of the gene encoding the 16 kDa DNA-binding and apoptosis-inducing C1D protein. Rothbarth K, et al. Biochim Biophys Acta, 2001 Apr 16. PMID 11311939

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data confirm that C1D is not directly involved in repair of UV-damaged DNA; C1D appears to protects cells from oxidative stress (induced by UV irradiation or hydrogen peroxide oxidation) by regulating expression of DNA repair/transcription enzymes such as APEX1 or DDIT3. (C1D = nuclear receptor corepressor C1D; APEX1 = apurinic/apyrimidinic endodeoxyribonuclease-1; DDIT3 = DNA damage inducible transcript-3)
      Title: C1D is not directly involved in the repair of UV-damaged DNA but protects cells from oxidative stress by regulating gene expressions in human cell lines.
    2. C1D is associated with the DNA repair complex and may promote repair of ultraviolet irradiation-induced DNA damage.
      Title: XPB induces C1D expression to counteract UV-induced apoptosis.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk of meningioma and common variation in genes related to innate immunity.
    5. Anti-C1D autoantibodies were observed in patients with polymyositis-scleroderma overlap syndrome.
      Title: C1D is a major autoantibody target in patients with the polymyositis-scleroderma overlap syndrome.
    6. Results are consistent with a role for the exosome-associated protein C1D in the recruitment of the exosome to pre-rRNA to mediate the 3' end processing of the 5.8S rRNA.
      Title: C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing.
    7. TRAX enhances the DNA binding capacity of Translin, that binds to recombination regions in some malignancies. C1D interacts with TRAX following g-irradiation and prevents formation of TRAX/Translin complex, thereby inhibits any unwanted recombination.
      Title: DNA damage-dependent interaction of the nuclear matrix protein C1D with Translin-associated factor X (TRAX).
    8. The C1D protein interacts with the catalytic subunit of DNA-PK and is a very effective substrate for DNA-PK in vitro. Moreover, C1D directs the activation of DNA-PK in a manner that does not require DNA termini, suggesting a role for C1D in DNA repair.
      Title: DNA end-independent activation of DNA-PK mediated via association with the DNA-binding protein C1D.
    Submit: New GeneRIF Correction

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif modulates the expression of C1D nuclear receptor corepressor (C1D) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12261, MGC14659

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maturation of 5.8S rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of 5.8S rRNA IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of exosome (RNase complex) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear exosome (RNase complex) TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of transcription repressor complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nuclear nucleic acid-binding protein C1D
    Names
    C1D DNA-binding protein
    C1D nuclear receptor co-repressor
    nuclear DNA-binding protein
    small unique nuclear receptor co-repressor
    small unique nuclear receptor corepressor

    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_001190263.2 → NP_001177192.1  nuclear nucleic acid-binding protein C1D

      See identical proteins and their annotated locations for NP_001177192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC079112, AI004680, AK290451
      Consensus CDS
      CCDS1883.1
      UniProtKB/Swiss-Prot
      A8K336, D6W5F8, Q05D64, Q13901
      Related
      ENSP00000386779.1, ENST00000409302.1
      Conserved Domains (1) summary
      pfam04000
      Location:18 → 95
      Sas10_Utp3; Sas10/Utp3/C1D family

    2. NM_001190265.2 → NP_001177194.1  nuclear nucleic acid-binding protein C1D

      See identical proteins and their annotated locations for NP_001177194.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC079112, AI004680, DA900336
      Consensus CDS
      CCDS1883.1
      UniProtKB/Swiss-Prot
      A8K336, D6W5F8, Q05D64, Q13901
      Conserved Domains (1) summary
      pfam04000
      Location:18 → 95
      Sas10_Utp3; Sas10/Utp3/C1D family

    3. NM_006333.4 → NP_006324.1  nuclear nucleic acid-binding protein C1D

      See identical proteins and their annotated locations for NP_006324.1

      Status: REVIEWED

      Description
      Transcript Variant: This transcript represents variant (1). Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC079112, BC016284, BG505686, BM354091, CN342947
      Consensus CDS
      CCDS1883.1
      UniProtKB/Swiss-Prot
      A8K336, D6W5F8, Q05D64, Q13901
      Related
      ENSP00000348107.3, ENST00000355848.7
      Conserved Domains (1) summary
      pfam04000
      Location:18 → 95
      Sas10_Utp3; Sas10/Utp3/C1D family

    4. NM_173177.3 → NP_775269.1  nuclear nucleic acid-binding protein C1D

      See identical proteins and their annotated locations for NP_775269.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC079112, BC009589, BG505686, BM354091, CN342947
      Consensus CDS
      CCDS1883.1
      UniProtKB/Swiss-Prot
      A8K336, D6W5F8, Q05D64, Q13901
      Related
      ENSP00000386468.3, ENST00000410067.8
      Conserved Domains (1) summary
      pfam04000
      Location:18 → 95
      Sas10_Utp3; Sas10/Utp3/C1D family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      68041130..68063004 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      68051683..68073563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13901.1 GenPept UniProtKB/Swiss-Prot:Q13901

    Gene LinkOut

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

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