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

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; 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

Location:: 8q24.12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (119833976..119855894, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (120962843..120984743, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (120846216..120868134, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of 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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

119833976..119855894 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)