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    NOL7 nucleolar protein 7 [ Homo sapiens (human) ]

    Gene ID: 51406, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NOL7provided by HGNC
    Official Full Name
    nucleolar protein 7provided by HGNC
    Primary source
    HGNC:HGNC:21040
    See related
    Ensembl:ENSG00000225921 MIM:611533; AllianceGenome:HGNC:21040
    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
    PQBP3; RARG-1; C6orf90; dJ223E5.2
    Summary
    The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in testis (RPKM 25.5), thyroid (RPKM 22.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NOL7 in Genome Data Viewer
    Location:
    6p23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13615335..13632470)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13488892..13506009)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13615567..13632702)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene sirtuin 5 Neighboring gene uncharacterized LOC105374938 Neighboring gene uncharacterized LOC124901263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24038 Neighboring gene RAN binding protein 9 Neighboring gene U7 small nuclear RNA Neighboring gene Sharpr-MPRA regulatory region 12249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16937 Neighboring gene uncharacterized LOC124901264

    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 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. NOL7 is a nucleolar candidate tumor suppressor gene in cervical cancer that modulates the angiogenic phenotype. Hasina R, et al. Oncogene, 2006 Jan 26. PMID 16205646
    2. Identification and characterization of the human NOL7 gene promoter. Mankame TP, et al. Gene, 2010 May 15. PMID 20206243, Free PMC Article
    3. Identification and functional analysis of NOL7 nuclear and nucleolar localization signals. Zhou G, et al. BMC Cell Biol, 2010 Sep 27. PMID 20875127, Free PMC Article
    4. The dynamics of the alternatively spliced NOL7 gene products and role in nucleolar architecture. Kinor N, et al. Nucleus, 2011 May-Jun. PMID 21818416, Free PMC Article
    5. Characterization of NOL7 gene point mutations, promoter methylation, and protein expression in cervical cancer. Doçi CL, et al. Int J Gynecol Pathol, 2012 Jan. PMID 22123719, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PQBP3 prevents senescence by suppressing PSME3-mediated proteasomal Lamin B1 degradation.
      Title: PQBP3 prevents senescence by suppressing PSME3-mediated proteasomal Lamin B1 degradation.
    2. Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing.
      Title: Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing.
    3. NOL7 facilitates melanoma progression and metastasis.
      Title: NOL7 facilitates melanoma progression and metastasis.
    4. NOL7 is the legitimate tumor suppressor gene located on 6p23.
      Title: Characterization of NOL7 gene point mutations, promoter methylation, and protein expression in cervical cancer.
    5. NOL7 significantly alters TSP-1 expression and may be a master regulator that coordinates the post-transcriptional expression of key signaling factors critical for the regulation of the angiogenic phenotype.
      Title: The novel tumor suppressor NOL7 post-transcriptionally regulates thrombospondin-1 expression.
    6. Three alternatively spliced forms of the human NOL7 gene coding for relatively small proteins were identified
      Title: The dynamics of the alternatively spliced NOL7 gene products and role in nucleolar architecture.
    7. determined that the essential elements required for the optimal promoter activity of NOL7 were 560 bp upstream of its translation start site.
      Title: Identification and characterization of the human NOL7 gene promoter.
    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

    • MGC71933

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maturation of SSU-rRNA IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    U3 small nucleolar RNA-associated protein NOL7
    Names
    U3 snoRNA-associated protein NOL7
    nucleolar protein 7, 27kDa
    nucleolar protein of 27 kDa
    polyglutamine binding protein 3
    retinoic acid repressible protein

    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_001317724.2 → NP_001304653.1  U3 small nucleolar RNA-associated protein NOL7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF172066, BU071935
      Consensus CDS
      CCDS4528.1
      UniProtKB/Swiss-Prot
      Q5T297, Q9UMY1, Q9Y3U7
      Conserved Domains (1) summary
      pfam08157
      Location:172 → 234
      NUC129; NUC129 domain

    2. NM_016167.5 → NP_057251.2  U3 small nucleolar RNA-associated protein NOL7

      See identical proteins and their annotated locations for NP_057251.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF172066, BM510944, CX760811
      Consensus CDS
      CCDS4528.1
      UniProtKB/Swiss-Prot
      Q5T297, Q9UMY1, Q9Y3U7
      Related
      ENSP00000405674.2, ENST00000451315.7
      Conserved Domains (1) summary
      pfam08157
      Location:172 → 234
      NUC129; NUC129 domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      13615335..13632470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      13488892..13506009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UMY1.2 GenPept UniProtKB/Swiss-Prot:Q9UMY1

    Gene LinkOut

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

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