CTPS1

Chr 1p34.2

CTP synthase 1

Aliases:: GATD5A
MANE:: ENST00000650070.2

OMIM: 123860 ↗NCBI: 1503 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CTPS1 · P17812

v62025-08-01

Predicted Aligned Error matrix for CTPS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.4/ 100

Very high

591 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)11%
Low(50–70)2%
Very low(< 50)4%

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

Disease associations (Open Targets)

combined immunodeficiency due to CTPS1 deficiency
0.71
hyperpituitarism
0.22
androgenetic alopecia
0.17
Miyoshi myopathy
0.08
cardiac arrhythmia
0.07
chronic obstructive pulmonary disease
0.07
Abnormality of the skeletal system
0.07
breast carcinoma
0.07
neoplasm
0.07
triple-negative breast carcinoma
0.06

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

Protein function (UniProt)

CTP synthase 1

CTP synthase involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids (PubMed:16179339, PubMed:17189248, PubMed:17463002, PubMed:24870241, PubMed:28459447, PubMed:34583994). Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen (PubMed:16179339, PubMed:24870241, PubMed:28459447, PubMed:34583994). CTPS1 CTP synthase activity plays a crucial role in the proliferation of activated lymphocytes and immunity; additional CTP being required to meet increased demand for DNA, RNA and lipid membrane biosynthesis in proliferating lymphocytes (PubMed:24870241, PubMed:8530356). In addition to CTP synthase activity, also acts as a protein deamidase that catalyzes the side chain deamidation of specific asparagine residues of proteins to aspartate (PubMed:40240600). Acts as a negative regulator of innate immunity by mediating deamidation of 'Asn-85' of IRF3, preventing IRF3 from binding DNA (By similarity). Facilitates chromatin relaxation in response to DNA damage by mediating deamidation of 'Asn-76' and 'Asn-77' of histone H1, thereby promoting subsequent acetylation of histone H1 at 'Lys-75' (H1K75ac), increasing chromatin accessibility to facilitate the recruitment of DNA repair proteins (PubMed:40240600)