Entity Details

Primary name NADE_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6IA69
EntryNameNADE_HUMAN
FullNameGlutamine-dependent NAD(+) synthetase
TaxID9606
Evidenceevidence at protein level
Length706
SequenceStatuscomplete
DateCreated2006-05-30
DateModified2021-06-02

Ontological Relatives

GenesNADSYN1

GO terms

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GOName
GO:0003952 NAD+ synthase (glutamine-hydrolyzing) activity
GO:0004359 glutaminase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0009435 NAD biosynthetic process
GO:0019674 NAD metabolic process
GO:0034627 'de novo' NAD biosynthetic process

Subcellular Location

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Domains

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DomainNameCategoryType
IPR003010 Carbon-nitrogen hydrolaseDomainDomain
IPR003694 NAD(+) synthetaseFamilyFamily
IPR014445 Glutamine-dependent NAD(+) synthetaseFamilyFamily
IPR014729 Rossmann-like alpha/beta/alpha sandwich foldFamilyHomologous superfamily
IPR022310 NAD/GMP synthaseDomainDomain
IPR036526 Carbon-nitrogen hydrolase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618845 OMIMVertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3)An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00130 L-GlutamineDrugbanksmall molecule
DB00142 Glutamic acidDrugbanksmall molecule