Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Molecular identification of human glutamine- and ammonia-dependent NAD synthetases. Carbon-nitrogen hydrolase domain confers glutamine dependency.
A proteome-scale map of the human interactome network.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
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Bi-allelic loss-of-function variants in NADSYN1, the final enzyme of the NAD de novo synthesis pathway, cause a congenital NAD deficiency disorder (VCRL3) with cardiac, renal, vertebral, and limb defects; missense variants show impaired enzymatic activity and severely reduced NAD levels.
A reference map of the human binary protein interactome.
NADSYN1 hexamer amidates NAAD to NAD+