• Gene id: 79075

Gene Summary

• Gene Symbol: DSCC1   Gene   UCSC   Ensembl
• Aliases: DCC1
• Gene name: DNA replication and sister chromatid cohesion 1
• Alternate names: sister chromatid cohesion protein DCC1, defective in sister chromatid cohesion 1 homolog, defective in sister chromatid cohesion protein 1 homolog,
• Gene location: 8q24.12 (141320783: 141318489)     Exons: 1     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 613203

Protein Summary

• Protein general information: Q9BVC3  
  • Name: Sister chromatid cohesion protein DCC1 (Defective in sister chromatid cohesion protein 1 homolog)
  • Length: 393  
  • Mass: 44825
• Sequence:

  MKRTRDEVDATLQIAKLNAAELLPAVHCLGFGPGASGAAAGDFCLLELEPTLCQQLEDGHSLVIRGDKDEQAVLC
  SKDKTYDLKIADTSNMLLFIPGCKTPDQLKKEDSHCNIIHTEIFGFSNNYWELRRRRPKLKKLKKLLMENPYEGP
  DSQKEKDSNSSKYTTEDLLDQIQASEEEIMTQLQVLNACKIGGYWRILEFDYEMKLLNHVTQLVDSESWSFGKVP
  LNTCLQELGPLEPEEMIEHCLKCYGKKYVDEGEVYFELDADKICRAAARMLLQNAVKFNLAEFQEVWQQSVPEGM
  VTSLDQLKGLALVDRHSRPEIIFLLKVDDLPEDNQERFNSLFSLREKWTEEDIAPYIQDLCGEKQTIGALLTKYS
  HSSMQNGVKVYNSRRPIS

• Structural information:
  • Interpro: IPR019128  
  • STRING: ENSP00000322180
• Other Databases: GeneCards:  DSCC1  Malacards:  DSCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000775	chromosome, centromeric region	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0003689	DNA clamp loader activity	IBA	contributes to
GO:0006275	regulation of DNA replication	IBA	biological process
GO:0031390	Ctf18 RFC-like complex	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0034088	maintenance of mitotic sister chromatid cohesion	IBA	biological process
GO:0017116	single-stranded DNA helicase activity	IDA	contributes to
GO:1900264	positive regulation of DNA-directed DNA polymerase activity	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003689	DNA clamp loader activity	IDA	contributes to
GO:0031390	Ctf18 RFC-like complex	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0034421	post-translational protein acetylation	IMP	biological process
GO:0034088	maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0034088	maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006275	regulation of DNA replication	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007064	mitotic sister chromatid cohesion	IEA	biological process
GO:0031390	Ctf18 RFC-like complex	IEA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0000775	chromosome, centromeric region	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq