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    NOP9 NOP9 nucleolar protein [ Homo sapiens (human) ]

    Gene ID: 161424, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NOP9provided by HGNC
    Official Full Name
    NOP9 nucleolar proteinprovided by HGNC
    Primary source
    HGNC:HGNC:19826
    See related
    Ensembl:ENSG00000196943 MIM:618308; AllianceGenome:HGNC:19826
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HP08474; C14orf21
    Summary
    Enables RNA binding activity. Predicted to be involved in ribosome biogenesis. Predicted to be part of 90S preribosome and preribosome, small subunit precursor. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 25.7), liver (RPKM 25.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NOP9 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24271203..24309124)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18498194..18507467)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24769056..24778330)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24710068-24710597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8201 Neighboring gene Sharpr-MPRA regulatory region 7959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8202 Neighboring gene TERF1 interacting nuclear factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24727660-24728357 Neighboring gene transglutaminase 1 Neighboring gene TGM1 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8205 Neighboring gene Rab geranylgeranyltransferase subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8208 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24747863-24748093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8213 Neighboring gene nonconserved acetylation island sequence 81 enhancer Neighboring gene dehydrogenase/reductase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5636 Neighboring gene cell death inducing DFFA like effector b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24785286-24785786 Neighboring gene leukotriene B4 receptor 2 Neighboring gene leukotriene B4 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24790818-24791777 Neighboring gene adenylate cyclase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5639

    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. Specific and modular binding code for cytosine recognition in Pumilio/FBF (PUF) RNA-binding domains. Dong S, et al. J Biol Chem, 2011 Jul 29. PMID 21653694, Free PMC Article
    2. Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Nudel R, et al. Genes Brain Behav, 2014 Apr. PMID 24571439, Free PMC Article
    3. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    4. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133
    5. UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair. Huang Q, et al. FASEB J, 2022 Jan. PMID 34921745

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, chromosome 14 open reading frame 21, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA2021

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal small subunit export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of 90S preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of preribosome, small subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nucleolar protein 9
    Names
    NOP9 nucleolar protein homolog
    hypothetical protein HP08474
    pumilio domain-containing protein C14orf21

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001286367.2 → NP_001273296.1  nucleolar protein 9 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in the coding region, which results a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB095941, AL096870, BC015481, BC025332, HY061279
      Consensus CDS
      CCDS66616.1
      UniProtKB/TrEMBL
      Q5HYL4
      Related
      ENSP00000380020.3, ENST00000396802.7

    2. NM_174913.3 → NP_777573.1  nucleolar protein 9 isoform 1

      See identical proteins and their annotated locations for NP_777573.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB095941, AL096870, BC015481, HY061279
      Consensus CDS
      CCDS9624.1
      UniProtKB/Swiss-Prot
      A8MY76, Q86U38, Q8IVF0, Q8TBS6
      UniProtKB/TrEMBL
      Q5HYL4
      Related
      ENSP00000267425.3, ENST00000267425.8
      Conserved Domains (1) summary
      cl21719
      Location:512 → 600
      Pumilio; Pumilio-family RNA binding 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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24271203..24309124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431054.1 → XP_047287010.1  nucleolar protein 9 isoform X1

      UniProtKB/TrEMBL
      Q5HYL4

    2. XM_047431053.1 → XP_047287009.1  nucleolar protein 9 isoform X1

      UniProtKB/TrEMBL
      Q5HYL4

    3. XM_047431052.1 → XP_047287008.1  nucleolar protein 9 isoform X1

      UniProtKB/TrEMBL
      Q5HYL4

    4. XM_047431055.1 → XP_047287011.1  nucleolar protein 9 isoform X1

      UniProtKB/TrEMBL
      Q5HYL4

    5. XM_005267385.2 → XP_005267442.1  nucleolar protein 9 isoform X1

      UniProtKB/TrEMBL
      Q5HYL4
      Conserved Domains (1) summary
      cl21719
      Location:526 → 614
      Pumilio; Pumilio-family RNA binding domain

    6. XM_011536526.3 → XP_011534828.1  nucleolar protein 9 isoform X2

      UniProtKB/TrEMBL
      Q5HYL4
      Conserved Domains (1) summary
      cl21719
      Location:442 → 530
      Pumilio; Pumilio-family RNA binding domain

    7. XM_011536527.3 → XP_011534829.1  nucleolar protein 9 isoform X3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      600828..610102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332333.1 → XP_054188308.1  nucleolar protein 9 isoform X3

    2. XM_054332332.1 → XP_054188307.1  nucleolar protein 9 isoform X2

      UniProtKB/TrEMBL
      Q5HYL4

    3. XM_054332331.1 → XP_054188306.1  nucleolar protein 9 isoform X1

      UniProtKB/TrEMBL
      Q5HYL4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18498194..18507467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375515.1 → XP_054231490.1  nucleolar protein 9 isoform X3

    2. XM_054375514.1 → XP_054231489.1  nucleolar protein 9 isoform X2

      UniProtKB/TrEMBL
      Q5HYL4

    3. XM_054375513.1 → XP_054231488.1  nucleolar protein 9 isoform X1

      UniProtKB/TrEMBL
      Q5HYL4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86U38.1 GenPept UniProtKB/Swiss-Prot:Q86U38

    Gene LinkOut

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