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    NOA1 nitric oxide associated 1 [ Homo sapiens (human) ]

    Gene ID: 84273, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NOA1provided by HGNC
    Official Full Name
    nitric oxide associated 1provided by HGNC
    Primary source
    HGNC:HGNC:28473
    See related
    Ensembl:ENSG00000084092 MIM:614919; AllianceGenome:HGNC:28473
    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
    MTG3; hNOA1; C4orf14; hAtNOS1; mAtNOS1
    Summary
    The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in colon (RPKM 10.1), duodenum (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NOA1 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56963350..56977606, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (60454802..60469054, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57829516..57843772, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15455 Neighboring gene serine peptidase inhibitor Kazal type 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:57710833-57711338 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:57711339-57711844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:57714899-57715398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21585 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:57773523-57774452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:57775383-57776312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:57780934-57781434 Neighboring gene RE1 silencing transcription factor Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:57802865-57804064 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:57831417-57831519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21588 Neighboring gene uncharacterized LOC124900913 Neighboring gene RNA polymerase II subunit B Neighboring gene RNA, U6 small nuclear 998, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Human C4orf14 interacts with the mitochondrial nucleoid and is involved in the biogenesis of the small mitochondrial ribosomal subunit. He J, et al. Nucleic Acids Res, 2012 Jul. PMID 22447445, Free PMC Article
    2. NOA1, a novel ClpXP substrate, takes an unexpected nuclear detour prior to mitochondrial import. Al-Furoukh N, et al. PLoS One, 2014. PMID 25072814, Free PMC Article
    3. A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity. Gu J, et al. Hum Mol Genet, 2011 Feb 15. PMID 21106707, Free PMC Article
    4. Nitric oxide-associated protein 1 (NOA1) is necessary for oxygen-dependent regulation of mitochondrial respiratory complexes. Heidler J, et al. J Biol Chem, 2011 Sep 16. PMID 21771794, Free PMC Article
    5. Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate. Zemojtel T, et al. FEBS Lett, 2006 Jan 23. PMID 16380119

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our results uncovered an unexpected, mandatory detour of NOA1 through the nucleolus before uptake into mitochondria.
      Title: NOA1, a novel ClpXP substrate, takes an unexpected nuclear detour prior to mitochondrial import.
    2. This study indicates rhat C4orf14 is involved in 28S subunit biogenesis and mtDNA maintenance.
      Title: Human C4orf14 interacts with the mitochondrial nucleoid and is involved in the biogenesis of the small mitochondrial ribosomal subunit.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. The present study suggests a novel function for mAtNOS1 in regulating mitochondrial nitric oxide and calcium and inducing apoptosis of MCF-7 cells
      Title: mAtNOS1 induces apoptosis of human mammary adenocarcinoma cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial ribosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with matrix side of mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    nitric oxide-associated protein 1
    Names
    mitochondrial GTPase 3 homolog
    nitric oxide synthase, mitochondrial (putative)
    putative ortholog of Arabidopsis mitochondrial nitric oxide synthase

    NCBI Reference Sequences (RefSeq)

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    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_032313.4 → NP_115689.1  nitric oxide-associated protein 1

      See identical proteins and their annotated locations for NP_115689.1

      Status: REVIEWED

      Source sequence(s)
      AC069307, BC004894
      Consensus CDS
      CCDS3510.1
      UniProtKB/Swiss-Prot
      Q8N7L6, Q8NC60, Q9BSQ9
      UniProtKB/TrEMBL
      B3KY51
      Related
      ENSP00000264230.4, ENST00000264230.5
      Conserved Domains (1) summary
      cl26335
      Location:139 → 660
      RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      56963350..56977606 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      60454802..60469054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NC60.2 GenPept UniProtKB/Swiss-Prot:Q8NC60

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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