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] See more...

Aliases for NADSYN1 Gene

Aliases for NADSYN1 Gene

  • NAD Synthetase 1 2 3 5
  • Glutamine-Dependent NAD(+) Synthetase 3 4
  • NAD(+) Synthetase 3 4
  • NAD(+) Synthase [Glutamine-Hydrolyzing] 4
  • Glutamine-Dependent NAD Synthetase 3
  • NAD(+) Synthase 3
  • EC 6.3.5.1 4

External Ids for NADSYN1 Gene

Previous GeneCards Identifiers for NADSYN1 Gene

  • GC11P071386
  • GC11P070890
  • GC11P070841
  • GC11P071164
  • GC11P067459

Summaries for NADSYN1 Gene

Entrez Gene Summary for NADSYN1 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]

GeneCards Summary for NADSYN1 Gene

NADSYN1 (NAD Synthetase 1) is a Protein Coding gene. Diseases associated with NADSYN1 include Smith-Lemli-Opitz Syndrome and Superficial Keratitis. Among its related pathways are NAD metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and NAD+ synthase (glutamine-hydrolyzing) activity.

UniProtKB/Swiss-Prot Summary for NADSYN1 Gene

  • Catalyzes the ATP-dependent amidation of deamido-NAD to form NAD (PubMed:12547821). Uses L-glutamine as a nitrogen source (PubMed:12547821).

Gene Wiki entry for NADSYN1 Gene

Additional gene information for NADSYN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NADSYN1 Gene

Genomics for NADSYN1 Gene

GeneHancer (GH) Regulatory Elements for NADSYN1 Gene

Promoters and enhancers for NADSYN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NADSYN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NADSYN1

Top Transcription factor binding sites by QIAGEN in the NADSYN1 gene promoter:
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • HEN1
  • HOXA5
  • NF-Y
  • NF-YA
  • Pax-4a

Genomic Locations for NADSYN1 Gene

Genomic Locations for NADSYN1 Gene
chr11:71,453,109-71,524,107
(GRCh38/hg38)
Size:
70,999 bases
Orientation:
Plus strand
chr11:71,164,155-71,235,153
(GRCh37/hg19)
Size:
70,999 bases
Orientation:
Plus strand

Genomic View for NADSYN1 Gene

Genes around NADSYN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NADSYN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NADSYN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NADSYN1 Gene

Proteins for NADSYN1 Gene

  • Protein details for NADSYN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IA69-NADE_HUMAN
    Recommended name:
    Glutamine-dependent NAD(+) synthetase
    Protein Accession:
    Q6IA69
    Secondary Accessions:
    • B3KUU4
    • Q86SN2
    • Q9HA25
    • Q9NVM8

    Protein attributes for NADSYN1 Gene

    Size:
    706 amino acids
    Molecular mass:
    79285 Da
    Quaternary structure:
    • Homohexamer.

    Alternative splice isoforms for NADSYN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NADSYN1 Gene

Post-translational modifications for NADSYN1 Gene

  • Ubiquitination at Lys421, Lys642, and Lys649
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NADSYN1 Gene

Domains & Families for NADSYN1 Gene

Gene Families for NADSYN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NADSYN1 Gene

Blocks:
  • Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase
  • NAD+ synthase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NADSYN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ40627 fis, clone THYMU2014183, highly similar to Glutamine-dependent NAD(+) synthetase (EC 6.3.5.1) (B3KUU4_HUMAN)
  • NAD(+) synthetase (NADE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6IA69

UniProtKB/Swiss-Prot:

NADE_HUMAN :
  • In the C-terminal section; belongs to the NAD synthetase family.
Family:
  • In the C-terminal section; belongs to the NAD synthetase family.
genes like me logo Genes that share domains with NADSYN1: view

Function for NADSYN1 Gene

Molecular function for NADSYN1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the ATP-dependent amidation of deamido-NAD to form NAD (PubMed:12547821). Uses L-glutamine as a nitrogen source (PubMed:12547821).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + deamido-NAD(+) + H2O + L-glutamine = AMP + diphosphate + H(+) + L-glutamate + NAD(+); Xref=Rhea:RHEA:24384, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57540, ChEBI:CHEBI:58359, ChEBI:CHEBI:58437, ChEBI:CHEBI:456215; EC=6.3.5.1; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.49 mM for deamido-NAD(+) {ECO:0000269 PubMed:12547821}; KM=0.089 mM for ATP {ECO:0000269 PubMed:12547821}; KM=1.44 mM for glutamine {ECO:0000269 PubMed:12547821}; KM=13.1 mM for ammonium {ECO:0000269 PubMed:12547821}; Vmax=0.99 nmol/min/ug enzyme deamido-NAD(+) {ECO:0000269 PubMed:12547821}; Vmax=0.61 nmol/min/ug enzyme ATP {ECO:0000269 PubMed:12547821}; Vmax=0.70 nmol/min/ug enzyme glutamine {ECO:0000269 PubMed:12547821}; Vmax=1.04 nmol/min/ug enzyme ammonium {ECO:0000269 PubMed:12547821};

Enzyme Numbers (IUBMB) for NADSYN1 Gene

Phenotypes From GWAS Catalog for NADSYN1 Gene

Gene Ontology (GO) - Molecular Function for NADSYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003952 NAD+ synthase (glutamine-hydrolyzing) activity IEA,IBA 21873635
GO:0004359 glutaminase activity IBA,IEA 21873635
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with NADSYN1: view
genes like me logo Genes that share phenotypes with NADSYN1: view

Animal Models for NADSYN1 Gene

MGI Knock Outs for NADSYN1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NADSYN1 Gene

Localization for NADSYN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NADSYN1 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NADSYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NADSYN1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NADSYN1 Gene

Pathways & Interactions for NADSYN1 Gene

genes like me logo Genes that share pathways with NADSYN1: view

UniProtKB/Swiss-Prot Q6IA69-NADE_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from deamido-NAD(+) (L-Gln route): step 1/1.

Gene Ontology (GO) - Biological Process for NADSYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006807 nitrogen compound metabolic process IEA --
GO:0009435 NAD biosynthetic process IEA --
GO:0019674 NAD metabolic process TAS --
genes like me logo Genes that share ontologies with NADSYN1: view

No data available for SIGNOR curated interactions for NADSYN1 Gene

Drugs & Compounds for NADSYN1 Gene

(10) Drugs for NADSYN1 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Streptozocin Approved, Investigational Pharma Antibiotic and antitumor agent 12
Famotidine Approved Pharma Histamine H2-receptor antagonist 73
Phosphoric acid Approved Pharma 0

(2) Additional Compounds for NADSYN1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Nicotinic acid adenine dinucleotide
  • deamido-NAD
  • deamido-NAD+
  • deamino-NAD+
  • Nicotinate adenine dinucleotide
  • Deamidonicotinamide adenine dinucleoetide
6450-77-7
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(1) ApexBio Compounds for NADSYN1 Gene

Compound Action Cas Number
Streptozocin Antibiotic and antitumor agent 18883-66-4
genes like me logo Genes that share compounds with NADSYN1: view

Drug Products

Transcripts for NADSYN1 Gene

mRNA/cDNA for NADSYN1 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NADSYN1 Gene

No ASD Table

Relevant External Links for NADSYN1 Gene

GeneLoc Exon Structure for
NADSYN1

Expression for NADSYN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NADSYN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NADSYN1 Gene

This gene is overexpressed in Lymph node (15.4) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NADSYN1 Gene



Protein tissue co-expression partners for NADSYN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NADSYN1

SOURCE GeneReport for Unigene cluster for NADSYN1 Gene:

Hs.556986

Evidence on tissue expression from TISSUES for NADSYN1 Gene

  • Nervous system(4.5)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with NADSYN1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NADSYN1 Gene

Orthologs for NADSYN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NADSYN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NADSYN1 31 30
  • 99.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NADSYN1 31 30
  • 86.87 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NADSYN1 31 30
  • 86.69 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nadsyn1 17 31 30
  • 83.5 (n)
rat
(Rattus norvegicus)
Mammalia Nadsyn1 30
  • 82.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 81 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NADSYN1 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves NADSYN1 31 30
  • 71.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NADSYN1 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nadsyn1 30
  • 70.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32794 30
zebrafish
(Danio rerio)
Actinopterygii CABZ01069576.1 31
  • 69 (a)
OneToMany
nadsyn1 31 30
  • 66.81 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000112 30
  • 61.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9940 31 30
  • 59.47 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea qns-1 31
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR358W 30
  • 56.92 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13024g 30
  • 55.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes QNS1 33 31 30
  • 55.75 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G55090 30
  • 52.87 (n)
rice
(Oryza sativa)
Liliopsida Os07g0167100 30
  • 54.6 (n)
Os.27399 30
corn
(Zea mays)
Liliopsida Zm.7969 30
bread mold
(Neurospora crassa)
Ascomycetes NCU04648 30
  • 58.9 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC553.02 30
  • 55.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.836 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.836 30
Species where no ortholog for NADSYN1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NADSYN1 Gene

ENSEMBL:
Gene Tree for NADSYN1 (if available)
TreeFam:
Gene Tree for NADSYN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NADSYN1: view image

Paralogs for NADSYN1 Gene

No data available for Paralogs for NADSYN1 Gene

Variants for NADSYN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NADSYN1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
710355 Benign: not provided 71,482,013(+) G/A MISSENSE_VARIANT
734323 Benign: not provided 71,497,578(+) C/T SYNONYMOUS_VARIANT
734829 Benign: not provided 71,497,491(+) G/A MISSENSE_VARIANT
779207 Benign: not provided 71,484,333(+) C/T SYNONYMOUS_VARIANT
779208 Benign: not provided 71,498,342(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NADSYN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NADSYN1 Gene

Variant ID Type Subtype PubMed ID
dgv74n21 CNV loss 19592680
nsv1052432 CNV gain 25217958
nsv472630 CNV novel sequence insertion 20440878
nsv474215 CNV novel sequence insertion 20440878
nsv555402 CNV gain 21841781

Variation tolerance for NADSYN1 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.92; 79.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NADSYN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NADSYN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NADSYN1 Gene

Disorders for NADSYN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NADSYN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smith-lemli-opitz syndrome
  • slos
superficial keratitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NADSYN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NADSYN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NADSYN1 Gene

Publications for NADSYN1 Gene

  1. Molecular identification of human glutamine- and ammonia-dependent NAD synthetases. Carbon-nitrogen hydrolase domain confers glutamine dependency. (PMID: 12547821) Hara N … Tsuchiya M (The Journal of biological chemistry 2003) 2 3 4 23 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41 54
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41 54
  5. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. (PMID: 20541252) Wang TJ … Spector TD (Lancet (London, England) 2010) 3 41 54

Products for NADSYN1 Gene

Sources for NADSYN1 Gene