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NOP9 NOP9 nucleolar protein [ Homo sapiens (human) ]

Gene ID: 161424, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in duodenum (RPKM 25.7), liver (RPKM 25.0) and 25 other tissues See more
Orthologs
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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 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)

Genotypes

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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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

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

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

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

  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

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

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

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

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

Gene LinkOut

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

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