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NOL7 nucleolar protein 7 [ Homo sapiens (human) ]

Gene ID: 51406, updated on 20-Apr-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
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Genomic context

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Location:
6p23
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13615335..13632470)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13488892..13506009)
105.20220307 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
  • 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 nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing. McCool MA, et al. RNA Biol, 2023 Jan. PMID 37246770, Free PMC Article
  2. NOL7 facilitates melanoma progression and metastasis. Li Y, et al. Signal Transduct Target Ther, 2021 Oct 13. PMID 34642294, Free PMC Article
  3. 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
  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. 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

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. NOL7 facilitates melanoma progression and metastasis.
    Title: NOL7 facilitates melanoma progression and metastasis.
  3. 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.
  4. 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.
  5. 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.
  6. 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)

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

  • 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_2023_10

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

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