GINS1
Function
Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653, PubMed:28414293). GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232).
Involvement in disease
Immunodeficiency 55
IMD55
An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GINS1/PSF1 family.
Cellular localization
- Nucleus
- Chromosome
- Associates with chromatin.
Alternative names
KIAA0186, PSF1, GINS1, DNA replication complex GINS protein PSF1, GINS complex subunit 1