GINS1

Chr 20p11.21

GINS complex subunit 1

Aliases:: KIAA0186, PSF1
MANE:: ENST00000262460.5

OMIM: 610608 ↗NCBI: 9837 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GINS1 · Q14691

v62025-08-01

Predicted Aligned Error matrix for GINS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.0/ 100

Very high

196 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)24%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined immunodeficiency due to GINS1 deficiency
0.68
fetal growth restriction
0.46
PHARC syndrome
0.43
Abnormality of the gastrointestinal tract
0.24
neurodegenerative disease
0.14
hepatocellular carcinoma
0.11
nicotine dependence
0.10
diffuse large B-cell lymphoma
0.09
sarcoma
0.09
cancer
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA replication complex GINS protein PSF1

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)