DSCC1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DSCC1 |
| Official Name | DNA replication and sister chromatid cohesion 1 [Source:HGNC Symbol;Acc:HGNC:24453] |
| Ensembl ID | ENSG00000136982 |
| Bio databases IDs | |
| Aliases | DNA replication and sister chromatid cohesion 1, defective in sister chromatid cohesion homolog 1 (S. cerevisiae) |
| Synonyms | 2010006I05Rik, 2600005O03Rik, DCC1, DNA replication and sister chromatid cohesion 1, MGC5528, RGD1561749 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DSCC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- single-stranded DNA dependent ATP dependent DNA helicase
- DNA clamp loader
- Sister chromatid cohesion protein Dcc1
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- osteoarthropathy
- venous thromboembolism
- nonsyndromic cleft lip and palate
- colon carcinoma
- colon epithelial cancer
role in cell
- CSN5i-3 sensitivity
- cohesion in
- cohesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- heterochromatin
- nucleoplasm
- centromeres
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DSCC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- maintenance of mitotic sister chromatid cohesion
- DNA replication
- DNA duplex unwinding
- positive regulation of DNA-directed DNA polymerase activity
- regulation of DNA replication
- post-translational protein acetylation
Cellular Component
Where in the cell the gene product is active
- Ctf18 RFC-like complex
- chromosome, centromeric region
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- DNA clamp loader activity
- protein binding
- single-stranded DNA-dependent ATP-dependent DNA helicase activity