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Aliases for NADSYN1 Gene

Aliases for NADSYN1 Gene

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

External Ids for NADSYN1 Gene

Previous GeneCards Identifiers for NADSYN1 Gene

  • 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. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and NAD+ synthase (glutamine-hydrolyzing) activity.

Gene Wiki entry for NADSYN1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NADSYN1 Gene

Genomics for NADSYN1 Gene

Regulatory Elements for NADSYN1 Gene

Enhancers for NADSYN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F071446 1.1 ENCODE 50 -2.1 -2054 8.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS KLF13 ENSG00000254682 NADSYN1 DHCR7
GH11F071432 1.1 Ensembl ENCODE 41.5 -19.5 -19510 4.6 ELF3 PKNOX1 ARID4B RARA YY1 SLC30A9 CREM PAF1 SMARCC1 SP5 NADSYN1 ENSG00000254682 FLJ42102
GH11F072430 1.2 ENCODE 23.3 +979.8 979819 4.7 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 SP3 TBX21 ZNF610 ZNF585B GLIS1 LOC100133315 LOC100128494 ZNF705E OR7E128P CLPB NADSYN1 ENSG00000248671 ARHGEF17 ENSG00000257038 ENSG00000255672
GH11F071487 0.8 ENCODE 27.9 +35.7 35735 2.4 HDGF PKNOX1 RAD21 RELA GATA3 CTBP1 POLR2A SCRT2 EED FOS ENSG00000254682 NADSYN1 DHCR7 KRTAP5-9 KRTAP5-8 GC11M071490 MIR6754
GH11F071479 0.9 ENCODE 24.2 +28.1 28100 3.1 PKNOX1 SIN3A ZBTB40 RAD21 SCRT2 ZNF207 RCOR1 FOS HCFC1 ZHX2 ENSG00000254682 NADSYN1 ENSG00000248671 DHCR7 KRTAP5-9 ALG1L9P MIR6754 GC11M071490
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NADSYN1 on UCSC Golden Path with GeneCards custom track

Promoters for NADSYN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001571262 91 2001 HDGF ARID4B SIN3A ZNF48 KLF13 SP3 SP5 MXD4 TBX21 KAT8

Genomic Location for NADSYN1 Gene

Chromosome:
11
Start:
71,453,109 bp from pter
End:
71,524,107 bp from pter
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 Lys 421, Lys 642, and Lys 649
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NADSYN1 Gene

Domains & Families for NADSYN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6IA69

UniProtKB/Swiss-Prot:

NADE_HUMAN :
  • Contains 1 CN hydrolase domain.
  • In the C-terminal section; belongs to the NAD synthetase family.
Domain:
  • Contains 1 CN hydrolase domain.
Family:
  • In the C-terminal section; belongs to the NAD synthetase family.
genes like me logo Genes that share domains with NADSYN1: view

No data available for Gene Families for NADSYN1 Gene

Function for NADSYN1 Gene

Molecular function for NADSYN1 Gene

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};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + deamido-NAD(+) + L-glutamine + H(2)O = AMP + diphosphate + NAD(+) + L-glutamate.

Enzyme Numbers (IUBMB) 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,TAS --
GO:0004359 glutaminase activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NADSYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
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
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Streptozocin Approved Pharma Antibiotic and antitumor agent 9
Famotidine Approved Pharma Histamine H2-receptor antagonist 59
Phosphoric acid Approved Pharma 0
Water 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+
  • Deamidonicotinamide adenine dinucleoetide
  • Deamino-nad+
  • NAAD
  • NaADN
6450-77-7
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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

Transcripts for NADSYN1 Gene

Unigene Clusters for NADSYN1 Gene

NAD synthetase 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for NADSYN1 Gene



Protein tissue co-expression partners for NADSYN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NADSYN1 Gene:

NADSYN1

SOURCE GeneReport for Unigene cluster for NADSYN1 Gene:

Hs.556986
genes like me logo Genes that share expression patterns with NADSYN1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia NADSYN1 34 35
  • 86.87 (n)
dog
(Canis familiaris)
Mammalia NADSYN1 34 35
  • 86.69 (n)
mouse
(Mus musculus)
Mammalia Nadsyn1 34 16 35
  • 83.5 (n)
rat
(Rattus norvegicus)
Mammalia Nadsyn1 34
  • 82.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NADSYN1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves NADSYN1 34 35
  • 71.7 (n)
lizard
(Anolis carolinensis)
Reptilia NADSYN1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nadsyn1 34
  • 70.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32794 34
zebrafish
(Danio rerio)
Actinopterygii CABZ01069576.1 35
  • 69 (a)
OneToMany
nadsyn1 34 35
  • 66.81 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000112 34
  • 61.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9940 34 35
  • 59.47 (n)
worm
(Caenorhabditis elegans)
Secernentea qns-1 35
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR358W 34
  • 56.92 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13024g 34
  • 55.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes QNS1 34 35 37
  • 55.75 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G55090 34
  • 52.87 (n)
rice
(Oryza sativa)
Liliopsida Os07g0167100 34
  • 54.6 (n)
Os.27399 34
corn
(Zea mays)
Liliopsida Zm.7969 34
bread mold
(Neurospora crassa)
Ascomycetes NCU04648 34
  • 58.9 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC553.02 34
  • 55.06 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.836 34
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)

Paralogs for NADSYN1 Gene

No data available for Paralogs for NADSYN1 Gene

Variants for NADSYN1 Gene

Sequence variations from dbSNP and Humsavar for NADSYN1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10160252 -- 71,477,077(+) ACACG(G/T)GGAAT intron-variant
rs10160376 -- 71,496,851(+) tgcaa(A/C)gacgt intron-variant
rs10160536 -- 71,496,464(+) tatga(A/G)aatct intron-variant
rs10466698 -- 71,495,496(+) gctgc(C/T)gctgg intron-variant
rs10466717 -- 71,495,517(+) ctgca(C/G)gtgtg intron-variant

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

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

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)

Relevant External Links 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

Relevant External Links for NADSYN1

Genetic Association Database (GAD)
NADSYN1
Human Genome Epidemiology (HuGE) Navigator
NADSYN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NADSYN1

No disorders were found for NADSYN1 Gene.

No data available for MalaCards , 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. (J. Biol. Chem. 2003) 2 3 4 22 64
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 64
  4. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. (PMID: 20541252) Wang T.J. … Spector T.D. (Lancet 2010) 3 46 64
  5. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for NADSYN1 Gene

Sources for NADSYN1 Gene

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