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

Gene ID: 79075, updated on 17-Jun-2019

Summary

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
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

Genomic context

See DSCC1 in Genome Data Viewer
Location:
8q24.12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (119833960..119855920, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (120846181..120868170, 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 uncharacterized LOC105375728 Neighboring gene Sharpr-MPRA regulatory region 238 Neighboring gene RNA, 7SL, cytoplasmic 396, pseudogene Neighboring gene DEP domain containing MTOR interacting protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gastric Cancer Network 2, organism-specific biosystem (from WikiPathways)
    Gastric Cancer Network 2, organism-specific biosystemNetwork generated by mapping candidate oncogenes and tumor suppressor genes identified by integrated analysis of expression array and aCGH data. Network generated by Ingenuity Pathway Analysis.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC5528

Gene Ontology Provided by GOA

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

General protein information

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)

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_024094.3NP_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
    Q9BVC3
    Related
    ENSP00000322180.4, ENST00000313655.5
    Conserved Domains (1) summary
    pfam09724
    Location:43357
    DUF2036; Uncharacterized conserved protein (DUF2036)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    119833960..119855920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251065.4XP_005251122.1  sister chromatid cohesion protein DCC1 isoform X1

    Conserved Domains (1) summary
    pfam09724
    Location:43312
    DUF2036; Uncharacterized conserved protein (DUF2036)
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