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    NADSYN1 NAD synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 55191, updated on 17-Sep-2024

    Summary

    Official Symbol
    NADSYN1provided by HGNC
    Official Full Name
    NAD synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:29832
    See related
    Ensembl:ENSG00000172890 MIM:608285; AllianceGenome:HGNC:29832
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VCRL3
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 25.3), duodenum (RPKM 20.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NADSYN1 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (71453203..71501816)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (71380158..71428792)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71164249..71212862)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene actin epsilon 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3707 Neighboring gene 7-dehydrocholesterol reductase Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:71159471-71159972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71164405-71164906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71164907-71165406 Neighboring gene DHCR7 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr11:71169226-71169406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71183373-71184280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71184281-71185187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71187723-71188302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71188303-71188882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71188883-71189462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71191463-71191988 Neighboring gene microRNA 6754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71196200-71196700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71198988-71199758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71211789-71212476 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71216417-71217007 Neighboring gene S100A11 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71238201-71238702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71238703-71239202 Neighboring gene keratin associated protein 5-7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association study of circulating vitamin D levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10631, FLJ36703, FLJ40627

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables NAD+ synthase (glutamine-hydrolyzing) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables NAD+ synthase (glutamine-hydrolyzing) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glutaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' NAD biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in NAD biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glutamine-dependent NAD(+) synthetase
    Names
    NAD(+) synthase
    NAD(+) synthetase
    glutamine-dependent NAD synthetase
    NP_060631.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018161.5NP_060631.2  glutamine-dependent NAD(+) synthetase

      See identical proteins and their annotated locations for NP_060631.2

      Status: VALIDATED

      Source sequence(s)
      AK022436, AP000867, AW804480, BC020977, BE730392, BI460954, BM554316
      Consensus CDS
      CCDS8201.1
      UniProtKB/Swiss-Prot
      B3KUU4, Q6IA69, Q86SN2, Q9HA25, Q9NVM8
      Related
      ENSP00000326424.2, ENST00000319023.7
      Conserved Domains (3) summary
      cd07570
      Location:6298
      GAT_Gln-NAD-synth; Glutamine aminotransferase (GAT, glutaminase) domain of glutamine-dependent NAD synthetases (class 7 and 8 nitrilases)
      PLN02339
      Location:3699
      PLN02339; NAD+ synthase (glutamine-hydrolysing)
      cd00553
      Location:327650
      NAD_synthase; NAD+ synthase is a homodimer, which catalyzes the final step in de novo nicotinamide adenine dinucleotide (NAD+) biosynthesis, an amide transfer from either ammonia or glutamine to nicotinic acid adenine dinucleotide (NaAD). The conversion of NaAD to NAD ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      71453203..71501816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      71380158..71428792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)