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

Gene ID: 84273, updated on 5-Mar-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
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Genomic context

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Location:
4q12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56963350..56977606, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (60454802..60469054, complement)
105.20220307 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: 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

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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. 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
  4. 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
  5. mAtNOS1 induces apoptosis of human mammary adenocarcinoma cells. Parihar A, et al. Life Sci, 2008 May 23. PMID 18456285

See all (49) 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)

Genotypes

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 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_2023_10

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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