Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    NMNAT1 nicotinamide nucleotide adenylyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 64802, updated on 5-Nov-2017
    Official Symbol
    NMNAT1provided by HGNC
    Official Full Name
    nicotinamide nucleotide adenylyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:17877
    See related
    Ensembl:ENSG00000173614 MIM:608700; Vega:OTTHUMG00000001799
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCA9; NMNAT; PNAT1
    Summary
    This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
    Orthologs
    Location:
    1p36.22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (9942923..9996739)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10003486..10045556)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene calsyntenin 1 Neighboring gene mitotic spindle organizing protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105376717 Neighboring gene catenin beta interacting protein 1 Neighboring gene RNA, 7SK small nuclear pseudogene 269 Neighboring gene leucine zipper and CTNNBIP1 domain containing Neighboring gene microRNA 5697 Neighboring gene retinol binding protein 7 Neighboring gene ubiquitination factor E4B Neighboring gene ribosomal protein L21 pseudogene 21

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with NMNAT1 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • NAD Biosynthesis II (from tryptophan), organism-specific biosystem (from WikiPathways)
      NAD Biosynthesis II (from tryptophan), organism-specific biosystemAs a general rule, most prokaryotes utilize the aspartate de novo pathway, in which the nicotinate moiety of NAD is synthesized from aspartate (see NAD biosynthesis I (from aspartate)). In eukaryotes...
    • NAD biosynthesis II (from tryptophan), conserved biosystem (from BIOCYC)
      NAD biosynthesis II (from tryptophan), conserved biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotide phosphate (NADP) are two of the most important coenzymes in redox reac...
    • NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, organism-specific biosystem (from BIOCYC)
      NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, organism-specific biosystemThis is the later portion of the pathway used for de novo biosynthesis of NAD, which starts with the amino acid :TRP. For the full pathway and more information, please see :NADSYN-PWY.
    • NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, conserved biosystem (from BIOCYC)
      NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde, conserved biosystemThis is the later portion of the pathway used in eukaryotes for de novo biosynthesis of NAD, which starts with the amino acid |FRAME:TRP|. For the full pathway and more information, please see |FRAME...
    • NAD de novo biosynthesis, organism-specific biosystem (from BIOCYC)
      NAD de novo biosynthesis, organism-specific biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotidephosphate (NADP) are two of the most important coenzymes in redox react...
    • NAD salvage, organism-specific biosystem (from BIOCYC)
      NAD salvage, organism-specific biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotidephosphate (NADP) are two of the most important coenzymes in redox react...
    • NAD salvage pathway III, conserved biosystem (from BIOCYC)
      NAD salvage pathway III, conserved biosystemGeneral Background Nicotinamide adenine dinucleotide (NAD) and its phosphorylated derivative, nicotinamide adenine dinucleotide phosphate (NADP) are two of the most important coenzymes in redox reac...
    • NAD+ biosynthetic pathways, organism-specific biosystem (from WikiPathways)
      NAD+ biosynthetic pathways, organism-specific biosystemNAD+ biosynthetic pathways. NAD+ levels are maintained by three independent pathways. First, the Preiss-Handler pathway uses dietary nicotinic acid and the enzyme nicotinic acid phosphoribosyltransfe...
    • NAD+ metabolism, organism-specific biosystem (from WikiPathways)
      NAD+ metabolism, organism-specific biosystemNAD+ metabolism in different cellular compartments. The different precursors to intracellular NAD metabolism - tryptophan, nicotinic acid (NA), nicotinamide, NR, and NMN - are shown, along with their...
    • Nicotinate and nicotinamide metabolism, organism-specific biosystem (from KEGG)
      Nicotinate and nicotinamide metabolism, organism-specific biosystem
      Nicotinate and nicotinamide metabolism
    • Nicotinate and nicotinamide metabolism, conserved biosystem (from KEGG)
      Nicotinate and nicotinamide metabolism, conserved biosystem
      Nicotinate and nicotinamide metabolism
    • Nicotinate metabolism, organism-specific biosystem (from REACTOME)
      Nicotinate metabolism, organism-specific biosystemNicotinate (niacin) and nicotinamide are precursors of the coenzymes nicotinamide-adenine dinucleotide (NAD+) and nicotinamide-adenine dinucleotide phosphate (NADP+). When NAD+ and NADP+ are intercha...
    • superpathway of tryptophan utilization, organism-specific biosystem (from BIOCYC)
      superpathway of tryptophan utilization, organism-specific biosystem
      superpathway of tryptophan utilization
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nicotinamide-nucleotide adenylyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nicotinate-nucleotide adenylyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nicotinate-nucleotide adenylyltransferase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    'de novo' NAD biosynthetic process from aspartate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP generation from poly-ADP-D-ribose IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NAD biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    NAD metabolic process TAS
    Traceable Author Statement
    more info
     
    response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
    Names
    NMN adenylyltransferase 1
    NMN/NaMN adenylyltransferase 1
    NaMN adenylyltransferase 1
    nicotinamide mononucleotide adenylyltransferase 1
    nicotinate-nucleotide adenylyltransferase 1
    pyridine nucleotide adenylyltransferase 1
    NP_001284707.1
    NP_001284708.1
    NP_073624.2
    XP_011540273.1
    XP_016857596.1
    XP_016857597.1

    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.

    Genomic

    1. NG_032954.1 RefSeqGene

      Range
      5001..47071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297778.1NP_001284707.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_001284707.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL357140, AL603962
      Consensus CDS
      CCDS108.1
      UniProtKB/Swiss-Prot
      Q9HAN9
      UniProtKB/TrEMBL
      A0A024R4E1
      Conserved Domains (1) summary
      cd09286
      Location:9254
      NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    2. NM_001297779.1NP_001284708.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI247931, AL603962, BG751629, BP309588, BU948893
      Consensus CDS
      CCDS72698.1
      UniProtKB/TrEMBL
      B1AN62
      Related
      ENSP00000385131.1, OTTHUMP00000001732, ENST00000403197.5, OTTHUMT00000005030
      Conserved Domains (1) summary
      cl00015
      Location:9109
      nt_trans; nucleotidyl transferase superfamily
    3. NM_022787.3NP_073624.2  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_073624.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL603962, BG751629, BP339298
      Consensus CDS
      CCDS108.1
      UniProtKB/Swiss-Prot
      Q9HAN9
      UniProtKB/TrEMBL
      A0A024R4E1
      Related
      ENSP00000366410.1, OTTHUMP00000001731, ENST00000377205.5, OTTHUMT00000005029
      Conserved Domains (1) summary
      cd09286
      Location:9254
      NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      9942923..9996739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002108.1XP_016857597.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

    2. XM_011541971.2XP_011540273.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X3

      Conserved Domains (1) summary
      cl00015
      Location:9109
      nt_trans; nucleotidyl transferase superfamily
    3. XM_017002107.1XP_016857596.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9HAN9
      UniProtKB/TrEMBL
      A0A024R4E1
      Conserved Domains (1) summary
      cd09286
      Location:9254
      NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      9991798..10034914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center