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    DSCC1 DNA replication and sister chromatid cohesion 1 [ Homo sapiens (human) ]

    Gene ID: 79075, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DSCC1provided by HGNC
    Official Full Name
    DNA replication and sister chromatid cohesion 1provided by HGNC
    Primary source
    HGNC:HGNC:24453
    See related
    Ensembl:ENSG00000136982 MIM:613203; AllianceGenome:HGNC:24453
    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
    DCC1
    Summary
    CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]
    Expression
    Ubiquitous expression in lymph node (RPKM 3.7), appendix (RPKM 2.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DSCC1 in Genome Data Viewer
    Location:
    8q24.12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (119833976..119855894, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (120962843..120984743, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (120846216..120868134, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 153 Neighboring gene TATA-box binding protein associated factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27843 Neighboring gene uncharacterized LOC105375728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:120879869-120880370 Neighboring gene Sharpr-MPRA regulatory region 238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:120886325-120886825 Neighboring gene RNA, 7SL, cytoplasmic 396, pseudogene Neighboring gene DEP domain containing MTOR interacting protein Neighboring gene RNA, 5S ribosomal pseudogene 277

    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. Characterization of the prognostic, diagnostic, and immunological roles of DSCC1 and its genomic alteration and instability in human cancers. Liu H, et al. Cell Mol Biol (Noisy-le-grand), 2024 Apr 28. PMID 38678604
    2. Overexpression of cohesion establishment factor DSCC1 through E2F in colorectal cancer. Yamaguchi K, et al. PLoS One, 2014. PMID 24465681, Free PMC Article
    3. DNA replication and sister chromatid cohesion 1 promotes breast carcinoma progression by modulating the Wnt/β-catenin signaling and p53 protein. Jin G, et al. J Biosci, 2020. PMID 33184243
    4. Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8. Murakami T, et al. J Biol Chem, 2010 Nov 5. PMID 20826785, Free PMC Article
    5. Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment. Merkle CJ, et al. J Biol Chem, 2003 Aug 8. PMID 12766176

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of the prognostic, diagnostic, and immunological roles of DSCC1 and its genomic alteration and instability in human cancers.
      Title: Characterization of the prognostic, diagnostic, and immunological roles of DSCC1 and its genomic alteration and instability in human cancers.
    2. DNA replication and sister chromatid cohesion 1 promotes breast carcinoma progression by modulating the Wnt/beta-catenin signaling and p53 protein.
      Title: DNA replication and sister chromatid cohesion 1 promotes breast carcinoma progression by modulating the Wnt/β-catenin signaling and p53 protein.
    3. E2F-dependent expression of DSCC1 confers anti-apoptotic properties in colorectal cancer cells.
      Title: Overexpression of cohesion establishment factor DSCC1 through E2F in colorectal cancer.
    4. Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8.
      Title: Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8.
    5. The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA.
      Title: The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA.
    6. hCTF18, hCTF8, and hDCC1 interact with each other as well as with the p38 subunit of RFC
      Title: Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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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    Homology

    Clone Names

    • MGC5528

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to DNA clamp loader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to single-stranded DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maintenance of mitotic sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maintenance of mitotic sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in post-translational protein acetylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Ctf18 RFC-like complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Ctf18 RFC-like complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in chromosome, centromeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sister chromatid cohesion protein DCC1
    Names
    defective in sister chromatid cohesion 1 homolog
    defective in sister chromatid cohesion protein 1 homolog

    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_024094.3 → NP_076999.2  sister chromatid cohesion protein DCC1

      See identical proteins and their annotated locations for NP_076999.2

      Status: VALIDATED

      Source sequence(s)
      AK058129, BC001531, DA346021
      Consensus CDS
      CCDS6330.1
      UniProtKB/Swiss-Prot
      Q969N5, Q9BVC3
      Related
      ENSP00000322180.4, ENST00000313655.5
      Conserved Domains (1) summary
      pfam09724
      Location:43 → 357
      DUF2036; Uncharacterized conserved protein (DUF2036)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      119833976..119855894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251065.5 → XP_005251122.1  sister chromatid cohesion protein DCC1 isoform X1

      Conserved Domains (1) summary
      pfam09724
      Location:43 → 312
      DUF2036; Uncharacterized conserved protein (DUF2036)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      120962843..120984743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361195.1 → XP_054217170.1  sister chromatid cohesion protein DCC1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVC3.2 GenPept UniProtKB/Swiss-Prot:Q9BVC3

    Gene LinkOut

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

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