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DSCC1

gene
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Also known as DCC1hDCC1MGC5528

Summary

DSCC1 (DNA replication and sister chromatid cohesion 1, HGNC:24453) is a protein-coding gene on chromosome 8q24.12, encoding Sister chromatid cohesion protein DCC1 (Q9BVC3). Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. It is a selective cancer dependency (DepMap: 21.7% of cell lines).

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]).

Source: NCBI Gene 79075 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 62 total
  • Cancer dependency (DepMap): dependent in 21.7% of screened cell lines
  • MANE Select transcript: NM_024094

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24453
Approved symbolDSCC1
NameDNA replication and sister chromatid cohesion 1
Location8q24.12
Locus typegene with protein product
StatusApproved
AliasesDCC1, hDCC1, MGC5528
Ensembl geneENSG00000136982
Ensembl biotypeprotein_coding
OMIM613203
Entrez79075

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron

ENST00000313655, ENST00000521795, ENST00000876772, ENST00000876773, ENST00000876774, ENST00000937369, ENST00000937370, ENST00000937371, ENST00000937372, ENST00000937373

RefSeq mRNA: 1 — MANE Select: NM_024094 NM_024094

CCDS: CCDS6330

Canonical transcript exons

ENST00000313655 — 9 exons

ExonStartEnd
ENSE00000926298119838259119838407
ENSE00001290481119833976119835001
ENSE00001296944119853047119853215
ENSE00001298424119842776119842828
ENSE00001306899119841794119841948
ENSE00001313915119850382119850516
ENSE00001315304119855614119855894
ENSE00001318216119843609119843747
ENSE00001321043119846990119847080

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 93.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4627 / max 326.9004, expressed in 1512 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
9462812.46271512

Top tissues by expression

282 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065593.65gold quality
oocyteCL:000002392.62gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.57gold quality
parotid glandUBERON:000183185.40gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047382.75gold quality
buccal mucosa cellCL:000233682.30silver quality
cortical plateUBERON:000534381.65gold quality
cervix squamous epitheliumUBERON:000692281.39silver quality
ventricular zoneUBERON:000305381.22gold quality
embryoUBERON:000092280.96gold quality
ganglionic eminenceUBERON:000402380.58gold quality
hair follicleUBERON:000207377.88silver quality
tendon of biceps brachiiUBERON:000818877.10silver quality
trabecular bone tissueUBERON:000248376.98gold quality
tibiaUBERON:000097976.59gold quality
calcaneal tendonUBERON:000370176.41gold quality
squamous epitheliumUBERON:000691476.37gold quality
tendonUBERON:000004376.15gold quality
esophagus squamous epitheliumUBERON:000692075.61gold quality
bone marrowUBERON:000237175.54gold quality
oviduct epitheliumUBERON:000480475.20silver quality
thymusUBERON:000237074.84gold quality
visceral pleuraUBERON:000240174.30gold quality
gingival epitheliumUBERON:000194974.23gold quality
cerebellar vermisUBERON:000472073.61silver quality
parietal pleuraUBERON:000240073.44gold quality
rectumUBERON:000105273.42gold quality
stromal cell of endometriumCL:000225573.41gold quality
lymph nodeUBERON:000002973.02gold quality
pleuraUBERON:000097772.88gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.19

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

60 targeting DSCC1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-5692A100.0074.406850
HSA-MIR-340-5P100.0072.504437
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-548N99.9871.944170
HSA-MIR-365899.9673.874379
HSA-MIR-9-3P99.9670.882068
HSA-MIR-590-3P99.9674.346478
HSA-MIR-314399.9371.963104
HSA-MIR-539-5P99.9370.302855
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-568099.9169.833421
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-806799.8669.592260
HSA-MIR-469899.8471.414303
HSA-MIR-548AZ-5P99.8369.943230
HSA-MIR-548T-5P99.8369.913220
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-320A-3P99.7769.732107
HSA-MIR-320B99.7769.732107
HSA-MIR-320C99.7769.732107
HSA-MIR-320D99.7769.732107
HSA-MIR-442999.7769.622111
HSA-MIR-674599.7465.331321

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 21.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

  • hCTF18, hCTF8, and hDCC1 interact with each other as well as with the p38 subunit of RFC (PMID:12766176)
  • The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA. (PMID:12930902)
  • 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)
  • E2F-dependent expression of DSCC1 confers anti-apoptotic properties in colorectal cancer cells. (PMID:24465681)
  • DNA replication and sister chromatid cohesion 1 promotes breast carcinoma progression by modulating the Wnt/beta-catenin signaling and p53 protein. (PMID:33184243)
  • Characterization of the prognostic, diagnostic, and immunological roles of DSCC1 and its genomic alteration and instability in human cancers. (PMID:38678604)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriodscc1ENSDARG00000019907
mus_musculusDscc1ENSMUSG00000022422
rattus_norvegicusDscc1ENSRNOG00000026502
drosophila_melanogasterCG11788FBGN0034495
caenorhabditis_elegansdscc-1WBGENE00019595

Protein

Protein identifiers

Sister chromatid cohesion protein DCC1 — Q9BVC3 (reviewed: Q9BVC3)

Alternative names: Defective in sister chromatid cohesion protein 1 homolog

All UniProt accessions (1): Q9BVC3

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Component of the CTF18-RFC complex which consists of CTF8, CTF18, DSCC1 and the RFC complex. Interacts with CTF8 and CTF18. Interacts with DDX11.

Subcellular location. Nucleus.

Similarity. Belongs to the DCC1 family.

RefSeq proteins (1): NP_076999* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR019128Dcc1Family

Pfam: PF09724

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BVC3-F192.010.77

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-174411Polymerase switching on the C-strand of the telomere

MSigDB gene sets: 200 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_CHROMOSOME_ORGANIZATION, KANG_DOXORUBICIN_RESISTANCE_UP, GOBP_POSITIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS, FISCHER_G1_S_CELL_CYCLE, MODULE_545, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, MUELLER_PLURINET, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_PROTEIN_ACETYLATION

GO Biological Process (6): DNA replication (GO:0006260), regulation of DNA replication (GO:0006275), maintenance of mitotic sister chromatid cohesion (GO:0034088), post-translational protein acetylation (GO:0034421), positive regulation of DNA-directed DNA polymerase activity (GO:1900264), mitotic sister chromatid cohesion (GO:0007064)

GO Molecular Function (4): DNA binding (GO:0003677), DNA clamp loader activity (GO:0003689), protein binding (GO:0005515), single-stranded DNA helicase activity (GO:0017116)

GO Cellular Component (5): chromosome, centromeric region (GO:0000775), chromatin (GO:0000785), nucleoplasm (GO:0005654), Ctf18 RFC-like complex (GO:0031390), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Telomere C-strand (Lagging Strand) Synthesis1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
chromosome2
cellular anatomical structure2
DNA metabolic process1
DNA biosynthetic process1
DNA replication1
regulation of DNA metabolic process1
mitotic sister chromatid cohesion1
maintenance of sister chromatid cohesion1
protein acetylation1
post-translational protein modification1
DNA-directed DNA polymerase activity1
positive regulation of catalytic activity1
regulation of transferase activity1
positive regulation of DNA biosynthetic process1
sister chromatid cohesion1
nucleic acid binding1
DNA binding1
ATP-dependent activity, acting on DNA1
binding1
DNA helicase activity1
chromosomal region1
nuclear lumen1
nuclear protein-containing complex1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1716 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DSCC1CHTF18Q8WVB6999
DSCC1CHTF8P0CG13999
DSCC1RFC2P32846985
DSCC1RFC5P40937980
DSCC1RFC3P40938962
DSCC1RFC4P35249906
DSCC1SMC3Q9UQE7891
DSCC1ESCO1Q5FWF5858
DSCC1WAPLQ7Z5K2832
DSCC1ESCO2Q56NI9826
DSCC1PDS5AQ29RF7817
DSCC1WDHD1O75717773
DSCC1ATAD5Q96QE3736
DSCC1RAD21O60216715
DSCC1TIPINQ9BVW5588

IntAct

60 interactions, top by confidence:

ABTypeScore
RFXANKRFXAPpsi-mi:“MI:0914”(association)0.780
TAF12TAF4psi-mi:“MI:0914”(association)0.760
RFC5RAD17psi-mi:“MI:0914”(association)0.730
RFC4RAD17psi-mi:“MI:0914”(association)0.730
DSCC1FGFR3psi-mi:“MI:0915”(physical association)0.560
UBQLN1DSCC1psi-mi:“MI:0915”(physical association)0.560
SLC35G2DSCC1psi-mi:“MI:0915”(physical association)0.560
TAF8TAF4psi-mi:“MI:0914”(association)0.530
DSCC1CHTF8psi-mi:“MI:0914”(association)0.530
CDIPTTTC5psi-mi:“MI:0914”(association)0.530
CPNE5RAD21psi-mi:“MI:0914”(association)0.530
PLPPR2METAP2psi-mi:“MI:0914”(association)0.530
HMBOX1DPF2psi-mi:“MI:0914”(association)0.350
P4HA2CCDC85Cpsi-mi:“MI:0914”(association)0.350
F9DDX11L8psi-mi:“MI:0914”(association)0.350
CPNE5NCK2psi-mi:“MI:0914”(association)0.350
RFC5RAD17psi-mi:“MI:0914”(association)0.350
PLPPR2SEC24Dpsi-mi:“MI:0914”(association)0.350
SLC22A23BMP4psi-mi:“MI:0914”(association)0.350

BioGRID (82): DSCC1 (Affinity Capture-MS), CHTF8 (Affinity Capture-MS), RFC4 (Affinity Capture-MS), RFC3 (Affinity Capture-MS), RFC5 (Affinity Capture-MS), RFC2 (Affinity Capture-MS), GTF2F1 (Affinity Capture-MS), CHTF18 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), DSCC1 (Affinity Capture-MS), THOC1 (Co-fractionation), RFC3 (Affinity Capture-Western), DSCC1 (Affinity Capture-MS), RFC4 (Affinity Capture-MS), DSCC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8F8I9, A0A2R8QPS5, A1A5P5, A7S2N8, B0BM28, B4FGS2, B8AXB6, B8B624, B8JKF4, B9FM64, F1QNV4, F4IQJ2, P49842, P97564, Q08CY4, Q08DB2, Q0P5W1, Q0VA04, Q14AI0, Q2KI89, Q32PH0, Q3SYG4, Q3U0M1, Q4R804, Q5R629, Q61586, Q66I84, Q68F70, Q6DHG8, Q6GL75, Q6GMB0, Q6GN08, Q6GPP1, Q6NU25, Q6PA97, Q7T006, Q7XAM0, Q7Z3E5, Q811G0, Q8CIM8

Diamond homologs: Q14AI0, Q66I84, Q6GL75, Q6GMB0, Q9BVC3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Transcription of the HIV genome520.1×8e-04
Regulation of TP53 Activity through Phosphorylation719.2×2e-05
RNA Polymerase II Pre-transcription Events516.0×2e-03
Transcriptional Regulation by TP5368.7×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

62 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance42
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1227 predictions. Top by Δscore:

VariantEffectΔscore
8:119838254:CTTA:Cdonor_gain1.0000
8:119838255:TTA:Tdonor_loss1.0000
8:119838256:TAC:Tdonor_loss1.0000
8:119838257:A:ACdonor_gain1.0000
8:119838257:ACTGA:Adonor_loss1.0000
8:119838258:C:CAdonor_gain1.0000
8:119838258:C:Tdonor_loss1.0000
8:119838258:CT:Cdonor_gain1.0000
8:119838258:CTG:Cdonor_gain1.0000
8:119838258:CTGA:Cdonor_gain1.0000
8:119838258:CTGAA:Cdonor_gain1.0000
8:119838403:AAACC:Aacceptor_gain1.0000
8:119838404:AACC:Aacceptor_gain1.0000
8:119838405:ACC:Aacceptor_gain1.0000
8:119838406:CC:Cacceptor_gain1.0000
8:119838406:CCC:Cacceptor_gain1.0000
8:119838407:CC:Cacceptor_gain1.0000
8:119838408:C:CCacceptor_gain1.0000
8:119838408:C:Tacceptor_gain1.0000
8:119838409:T:Cacceptor_loss1.0000
8:119838417:A:Cacceptor_gain1.0000
8:119841821:T:Adonor_gain1.0000
8:119841949:C:CCacceptor_gain1.0000
8:119843603:ACTT:Adonor_loss1.0000
8:119843605:TTAC:Tdonor_loss1.0000
8:119843606:TACTC:Tdonor_loss1.0000
8:119843607:A:ACdonor_gain1.0000
8:119843607:ACT:Adonor_gain1.0000
8:119843608:C:CAdonor_gain1.0000
8:119843608:CT:Cdonor_gain1.0000

AlphaMissense

2607 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:119843687:A:GL213P0.985
8:119838290:A:GW348R0.981
8:119838290:A:TW348R0.981
8:119841854:A:CF288L0.977
8:119841854:A:TF288L0.977
8:119841856:A:GF288L0.977
8:119847042:A:CS175R0.977
8:119847042:A:TS175R0.977
8:119847044:T:GS175R0.977
8:119841844:A:GW292R0.976
8:119841844:A:TW292R0.976
8:119842808:A:GL246P0.975
8:119843708:A:GL206P0.974
8:119843654:A:TV224D0.970
8:119853207:A:TI64N0.970
8:119841869:G:CF283L0.967
8:119841869:G:TF283L0.967
8:119841871:A:GF283L0.967
8:119853207:A:GI64T0.967
8:119843705:A:GL207P0.966
8:119841855:A:GF288S0.963
8:119853207:A:CI64S0.961
8:119847019:A:GL183S0.959
8:119847064:A:GL168S0.959
8:119838288:C:AW348C0.958
8:119838288:C:GW348C0.958
8:119843742:A:GW195R0.958
8:119843742:A:TW195R0.958
8:119841831:A:TV296D0.957
8:119843640:A:GC229R0.955

dbSNP variants (sampled 300 via entrez): RS1000130730 (8:119848469 A>G), RS1000147787 (8:119848906 C>T), RS1000188795 (8:119853332 C>T), RS1000410274 (8:119855874 C>A,G,T), RS1000715621 (8:119856097 T>C,G), RS1001161800 (8:119846672 C>T), RS1001387867 (8:119842163 T>A), RS1001663971 (8:119837846 G>A,C), RS1001714805 (8:119838359 G>A), RS1001956110 (8:119845936 G>A), RS1002053117 (8:119836270 A>G), RS1002298985 (8:119843342 C>T), RS1002452565 (8:119857740 A>C,G), RS1002591377 (8:119857507 C>T), RS1002704855 (8:119856818 G>A)

Disease associations

OMIM: gene MIM:613203 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST004068_85Venous thromboembolism adjusted for sickle cell variant rs77121243-T5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

61 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases expression3
Benzo(a)pyreneaffects methylation, increases expression3
Tetrachlorodibenzodioxinaffects expression, decreases expression3
Cyclosporinedecreases expression3
Aflatoxin B1affects expression, increases expression, increases methylation3
Testosteroneaffects cotreatment, decreases expression2
Valproic Acidaffects cotreatment, increases expression, affects expression2
GSK-J4decreases expression1
afuresertibdecreases expression1
lasiocarpineincreases expression1
triphenyl phosphateaffects expression1
propionaldehydedecreases expression1
bisphenol Adecreases expression1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)affects expression, affects response to substance1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
pyrviniumdecreases reaction, increases expression1
potassium chromate(VI)affects cotreatment, decreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, increases expression1
S-(1,2-dichlorovinyl)cysteineaffects cotreatment, decreases expression1
epigallocatechin gallatedecreases expression, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
2-palmitoylglycerolincreases expression1
erucylphospho-N,N,N-trimethylpropylammoniumdecreases expression1
abrinedecreases expression1
jinfukangincreases expression1
7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-onedecreases expression1
NSC 689534decreases expression, affects binding1
Atorvastatinaffects response to substance1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot