NADSYN1

Chr 11q13.4

NAD synthetase 1

Aliases:: FLJ10631
MANE:: ENST00000319023.7

OMIM: 608285 ↗NCBI: 55191 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NADSYN1 · Q6IA69

v62025-08-01

Predicted Aligned Error matrix for NADSYN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.9/ 100

Very high

706 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)6%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

vertebral, cardiac, renal, and limb defects syndrome 3
0.71
congenital vertebral-cardiac-renal anomalies syndrome
0.63
Ulbright-Hodes syndrome
0.60
neurodegenerative disease
0.50
vitamin D deficiency
0.37
Neurodevelopmental delay
0.34
vitamin deficiency disorder
0.34
systemic lupus erythematosus
0.24
hereditary disease
0.19
multiple sclerosis
0.19

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

Protein function (UniProt)

Glutamine-dependent NAD(+) synthetase

Catalyzes the final step of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway, the ATP-dependent amidation of deamido-NAD using L-glutamine as a nitrogen source