NADSYN1

Protein identityUniProt · HPA

UniProt accession

Q6IA69

Gene

NADSYN1

Ensembl

ENSG00000172890

Chromosome

11

Canonical length

706 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Golgi apparatus,Vesicles,Cytosol

Quaternary structure

Homohexamer

OverviewNCBI Gene

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]

Canonical amino-acid sequenceUniProt

706 residues, UniProt reviewed canonical sequence.

>Q6IA69|NADSYN1
     1  MGRKVTVATC ALNQWALDFE GNLQRILKSI EIAKNRGARY RLGPELEICG YGCWDHYYES
    61  DTLLHSFQVL AALVESPVTQ DIICDVGMPV MHRNVRYNCR VIFLNRKILL IRPKMALANE
   121  GNYRELRWFT PWSRSRHTEE YFLPRMIQDL TKQETVPFGD AVLVTWDTCI GSEICEELWT
   181  PHSPHIDMGL DGVEIITNAS GSHQVLRKAN TRVDLVTMVT SKNGGIYLLA NQKGCDGDRL
   241  YYDGCAMIAM NGSVFAQGSQ FSLDDVEVLT ATLDLEDVRS YRAEISSRNL AASRASPYPR
   301  VKVDFALSCH EDLLAPISEP IEWKYHSPEE EISLGPACWL WDFLRRSQQA GFLLPLSGGV
   361  DSAATACLIY SMCCQVCEAV RSGNEEVLAD VRTIVNQISY TPQDPRDLCG RILTTCYMAS
   421  KNSSQETCTR ARELAQQIGS HHISLNIDPA VKAVMGIFSL VTGKSPLFAA HGGSSRENLA
   481  LQNVQARIRM VLAYLFAQLS LWSRGVHGGL LVLGSANVDE SLLGYLTKYD CSSADINPIG
   541  GISKTDLRAF VQFCIQRFQL PALQSILLAP ATAELEPLAD GQVSQTDEED MGMTYAELSV
   601  YGKLRKVAKM GPYSMFCKLL GMWRHICTPR QVADKVKRFF SKYSMNRHKM TTLTPAYHAE
   661  NYSPEDNRFD LRPFLYNTSW PWQFRCIENQ VLQLERAEPQ SLDGVD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NADSYN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

64 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NADSYN1.

Disease | AllUniProt

Conditions NADSYN1 is implicated in, by any mechanism.

• Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3) MIM:618845

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 177 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Vertebral, cardiac, renal, and limb defects syndrome 3
• Congenital NAD deficiency disorder
• NADSYN1-related disorder
• Neurodevelopmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0

gnomAD missense Z

0.71

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 'de novo' NAD+ biosynthetic process from L-tryptophan
• NAD+ biosynthetic process
• NAD+ biosynthetic process via the salvage pathway

Molecular functions

• ATP binding
• glutaminase activity
• NAD+ synthase (glutamine-hydrolyzing) activity

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• Carbon-nitrogen hydrolase
• Rossmann-like alpha/beta/alpha sandwich fold
• NAD/GMP synthase
• Carbon-nitrogen hydrolase superfamily
• Carbon-nitrogen hydrolase
• NAD synthase
• NAD(+) synthetase
• Glutamine-dependent NAD(+) synthetase

KeywordsUniProt

• ATP-binding
• Ligase
• NAD
• Nucleotide-binding

InteractionsUniProt · HPA

Protein binding partners of NADSYN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• STUB1