DSCC1 - DNA replication and sister chromatid cohesion 1 Gene

Also Known as DCC1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 79075

About DSCC1

Cytogenetic location: 8q24.12 Genomic coordinates (GRCh38): 8:119,833,976-119,855,894 (from NCBI)

This gene has 2 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in lymph node (RPKM 3.7), appendix (RPKM 2.3) and 24 other tissues.

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]

DSCC1 Products (1)

mRNA Protein Name
NM_024094.3 NP_076999.2 sister chromatid cohesion protein DCC1
Molecular Function GO Annotation Evidence 参考文献 由来
contributes to DNA clamp loader activity IDA
IDA: Inferred from direct assay
12930902 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16682347 GOA
contributes to single-stranded DNA helicase activity IDA
IDA: Inferred from direct assay
12930902 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in maintenance of mitotic sister chromatid cohesion IMP
IMP: Inferred from mutant phenotype
16682347 GOA
involved in positive regulation of DNA-directed DNA polymerase activity IDA
IDA: Inferred from direct assay
12930902 GOA
involved in post-translational protein acetylation IMP
IMP: Inferred from mutant phenotype
19907496 GOA
involved in regulation of DNA replication IMP
IMP: Inferred from mutant phenotype
19907496 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of Ctf18 RFC-like complex IDA
IDA: Inferred from direct assay
12930902 GOA
located in chromatin IDA
IDA: Inferred from direct assay
16682347 GOA
located in chromosome, centromeric region IDA
IDA: Inferred from direct assay
16682347 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
16682347 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DSCC1 Protein Structure

Dcc1

Dcc1: Sister chromatid cohesion protein Dcc1 (42 - 358)

  • 0
  • 100
  • 200
  • 300
  • 393 a.a.
Protein Preferred Names Protein Names

sister chromatid cohesion protein DCC1

  • defective in sister chromatid cohesion 1 homolog

DSCC1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
DSCC1 Q9BVC3 FGFR3 Homo sapiens P22607 32814053
Intra
DSCC1 Q9BVC3 FGFR3 Homo sapiens P22607 32814053
Intra
DSCC1 Q9BVC3 FGFR3 Homo sapiens P22607 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
  • Amelogenesis Imperfecta Hypomaturation Type 2a3

  • AI2A3

  • Amelogenesis Imperfecta Hypomaturation Type Iia3

  • Amelogenesis Imperfecta, Type Iia3

  • Amelogenesis Imperfecta Type Iia3

  • Amelogenesis Imperfecta, Hypomaturation Type, 2a3

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Canis familiaris DSCC1 VGNC VGNC:51769
Mus musculus DSCC1 MGD MGI:1919357
Bos taurus DSCC1 VGNC VGNC:28217
Felis catus DSCC1 VGNC VGNC:61636
Macaca mulatta DSCC1 VGNC VGNC:71894
Rattus norvegicus DSCC1 RGD RGD:1561749
Others DSCC1 NCBI