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] See more...

Aliases for DSCC1 Gene

Aliases for DSCC1 Gene

  • DNA Replication And Sister Chromatid Cohesion 1 2 3 5
  • DCC1 2 3 4
  • Defective In Sister Chromatid Cohesion Protein 1 Homolog 3 4
  • Sister Chromatid Cohesion Protein DCC1 3 4
  • Defective In Sister Chromatid Cohesion Homolog 1 (S. Cerevisiae) 2
  • Defective In Sister Chromatid Cohesion 1 Homolog (S. Cerevisiae) 2
  • Defective In Sister Chromatid Cohesion 1 Homolog 3
  • MGC5528 2
  • DSCC1 5
  • HDCC1 2

External Ids for DSCC1 Gene

Previous GeneCards Identifiers for DSCC1 Gene

  • GC08M120916
  • GC08M120917
  • GC08M120846
  • GC08M116167

Summaries for DSCC1 Gene

Entrez Gene Summary for DSCC1 Gene

  • 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]

GeneCards Summary for DSCC1 Gene

DSCC1 (DNA Replication And Sister Chromatid Cohesion 1) is a Protein Coding gene. Diseases associated with DSCC1 include Cornelia De Lange Syndrome. Among its related pathways are Gastric Cancer Network 2. Gene Ontology (GO) annotations related to this gene include DNA clamp loader activity.

UniProtKB/Swiss-Prot Summary for DSCC1 Gene

  • Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3.

Gene Wiki entry for DSCC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSCC1 Gene

Genomics for DSCC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DSCC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSCC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSCC1

Top Transcription factor binding sites by QIAGEN in the DSCC1 gene promoter:
  • COMP1
  • GATA-1
  • GATA-2
  • GATA-3
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • Sp1
  • SRF
  • SRF (504 AA)

Genomic Locations for DSCC1 Gene

Latest Assembly
chr8:119,833,960-119,855,920
(GRCh38/hg38)
Size:
21,961 bases
Orientation:
Minus strand

Previous Assembly
chr8:120,846,216-120,868,134
(GRCh37/hg19 by Entrez Gene)
Size:
21,919 bases
Orientation:
Minus strand

chr8:120,846,216-120,868,250
(GRCh37/hg19 by Ensembl)
Size:
22,035 bases
Orientation:
Minus strand

Genomic View for DSCC1 Gene

Genes around DSCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSCC1 Gene

Proteins for DSCC1 Gene

  • Protein details for DSCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVC3-DCC1_HUMAN
    Recommended name:
    Sister chromatid cohesion protein DCC1
    Protein Accession:
    Q9BVC3
    Secondary Accessions:
    • Q969N5

    Protein attributes for DSCC1 Gene

    Size:
    393 amino acids
    Molecular mass:
    44825 Da
    Quaternary structure:
    • Component of the CTF18-RFC complex which consists of CTF8, CTF18, DSCC1 and the RFC complex (PubMed:12766176). Interacts with CTF8 and CTF18 (PubMed:12766176). Interacts with DDX11 (PubMed:18499658).

neXtProt entry for DSCC1 Gene

Post-translational modifications for DSCC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DSCC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSCC1 Gene

Domains & Families for DSCC1 Gene

Gene Families for DSCC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DSCC1 Gene

InterPro:

Suggested Antigen Peptide Sequences for DSCC1 Gene

GenScript: Design optimal peptide antigens:
  • Defective in sister chromatid cohesion protein 1 homolog (DCC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BVC3

UniProtKB/Swiss-Prot:

DCC1_HUMAN :
  • Belongs to the DCC1 family.
Family:
  • Belongs to the DCC1 family.
genes like me logo Genes that share domains with DSCC1: view

Function for DSCC1 Gene

Molecular function for DSCC1 Gene

UniProtKB/Swiss-Prot Function:
Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3.

Phenotypes From GWAS Catalog for DSCC1 Gene

Gene Ontology (GO) - Molecular Function for DSCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003689 contributes_to DNA clamp loader activity IBA,IDA 12930902
GO:0005515 protein binding IPI 16682347
GO:0017116 contributes_to single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA 12930902
genes like me logo Genes that share ontologies with DSCC1: view
genes like me logo Genes that share phenotypes with DSCC1: view

Animal Models for DSCC1 Gene

MGI Knock Outs for DSCC1:
  • Dscc1 Dscc1<tm1a(KOMP)Wtsi>

miRNA for DSCC1 Gene

miRTarBase miRNAs that target DSCC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSCC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DSCC1 Gene

Localization for DSCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSCC1 Gene

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 DSCC1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1
peroxisome 0
endoplasmic reticulum 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DSCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IBA,IDA 16682347
GO:0000785 chromatin IDA 16682347
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA 16682347
GO:0031390 Ctf18 RFC-like complex IBA,IDA 12930902
genes like me logo Genes that share ontologies with DSCC1: view

Pathways & Interactions for DSCC1 Gene

PathCards logo

SuperPathways for DSCC1 Gene

SuperPathway Contained pathways
1 Gastric Cancer Network 2
genes like me logo Genes that share pathways with DSCC1: view

Pathways by source for DSCC1 Gene

1 BioSystems pathway for DSCC1 Gene

Gene Ontology (GO) - Biological Process for DSCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006275 regulation of DNA replication IBA,IMP 19907496
GO:0007049 cell cycle IEA --
GO:0007064 mitotic sister chromatid cohesion IEA --
GO:0032508 DNA duplex unwinding IEA --
genes like me logo Genes that share ontologies with DSCC1: view

No data available for SIGNOR curated interactions for DSCC1 Gene

Drugs & Compounds for DSCC1 Gene

No Compound Related Data Available

Transcripts for DSCC1 Gene

mRNA/cDNA for DSCC1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSCC1

Alternative Splicing Database (ASD) splice patterns (SP) for DSCC1 Gene

No ASD Table

Relevant External Links for DSCC1 Gene

GeneLoc Exon Structure for
DSCC1

Expression for DSCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DSCC1 Gene

This gene is overexpressed in Ovary (43.7) and Fetal ovary (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DSCC1 Gene



Protein tissue co-expression partners for DSCC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSCC1

SOURCE GeneReport for Unigene cluster for DSCC1 Gene:

Hs.315167

Evidence on tissue expression from TISSUES for DSCC1 Gene

  • Nervous system(4.5)
  • Skin(2)
genes like me logo Genes that share expression patterns with DSCC1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DSCC1 Gene

Orthologs for DSCC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DSCC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DSCC1 29 30
  • 99.38 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DSCC1 29 30
  • 91.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DSCC1 29 30
  • 88.35 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DSCC1 30
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dscc1 29
  • 85.88 (n)
Mouse
(Mus musculus)
Mammalia Dscc1 29 16 30
  • 84.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DSCC1 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DSCC1 29 30
  • 75.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DSCC1 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dscc1 29
  • 68.38 (n)
Str.4502 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.10004 29
Zebrafish
(Danio rerio)
Actinopterygii dscc1 29 30
  • 67.53 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13927 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010703 29
  • 43.42 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG11788 29 30
  • 41.94 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea K09H9.2 29 30
  • 41.67 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DCC1 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G44580 29
  • 45.27 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0119600 29
  • 43.65 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.825 30
  • 41 (a)
OneToOne
Species where no ortholog for DSCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DSCC1 Gene

ENSEMBL:
Gene Tree for DSCC1 (if available)
TreeFam:
Gene Tree for DSCC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSCC1: view image
Alliance of Genome Resources:
Additional Orthologs for DSCC1

Paralogs for DSCC1 Gene

No data available for Paralogs for DSCC1 Gene

Variants for DSCC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSCC1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1055130 -- p.His376Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSCC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DSCC1 Gene

Variant ID Type Subtype PubMed ID
nsv612111 CNV gain 21841781

Variation tolerance for DSCC1 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 32.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSCC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSCC1
Leiden Open Variation Database (LOVD)
DSCC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSCC1 Gene

Disorders for DSCC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DSCC1 Gene - From: COP

Disorder Aliases PubMed IDs
cornelia de lange syndrome
  • brachmann de lange syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DSCC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DSCC1

genes like me logo Genes that share disorders with DSCC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSCC1 Gene

Publications for DSCC1 Gene

  1. Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment. (PMID: 12766176) Merkle CJ … Chen J (The Journal of biological chemistry 2003) 2 3 4
  2. 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. (PMID: 20826785) Murakami T … Tsurimoto T (The Journal of biological chemistry 2010) 2 3
  3. Cohesin acetylation speeds the replication fork. (PMID: 19907496) Terret ME … Jallepalli PV (Nature 2009) 3 4
  4. Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1. (PMID: 18499658) Farina A … Hurwitz J (The Journal of biological chemistry 2008) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for DSCC1 Gene

Sources for DSCC1 Gene