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    NOL11 nucleolar protein 11 [ Homo sapiens (human) ]

    Gene ID: 25926, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NOL11provided by HGNC
    Official Full Name
    nucleolar protein 11provided by HGNC
    Primary source
    HGNC:HGNC:24557
    See related
    Ensembl:ENSG00000130935 MIM:615366; AllianceGenome:HGNC:24557
    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
    Summary
    Enables RNA binding activity. Involved in maturation of SSU-rRNA and positive regulation of transcription of nucleolar large rRNA by RNA polymerase I. Located in nucleolus. Part of t-UTP complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 16.4), appendix (RPKM 14.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NOL11 in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67717936..67744531)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (68593485..68619780)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65714052..65740647)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein cytoplasmic 1 Neighboring gene uncharacterized LOC124904045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12627 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65595554-65595782 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:65598997-65599506 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65636212-65636398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12629 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65651209-65651710 Neighboring gene uncharacterized LOC101928045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65715225-65715946 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65717475-65717706 Neighboring gene MPRA-validated peak2955 silencer Neighboring gene Sharpr-MPRA regulatory region 6571 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65747753-65748532 Neighboring gene Sharpr-MPRA regulatory region 8992 Neighboring gene small nucleolar RNA, H/ACA box 38B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65764054-65764654 Neighboring gene Sharpr-MPRA regulatory region 7199 Neighboring gene ribosomal protein L17 pseudogene 41 Neighboring gene ribosomal protein SA pseudogene 67

    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. Identification of a novel nucleolar protein complex required for mitotic chromosome segregation through centromeric accumulation of Aurora B. Fujimura A, et al. Nucleic Acids Res, 2020 Jul 9. PMID 32479628, Free PMC Article
    2. 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
    3. NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. Freed EF, et al. PLoS Genet, 2012. PMID 22916032, Free PMC Article
    4. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Carvill GL, et al. Neurology, 2014 Apr 8. PMID 24623842, Free PMC Article
    5. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. Petroziello J, et al. Oncogene, 2004 Oct 7. PMID 15334068

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a novel nucleolar protein complex required for mitotic chromosome segregation through centromeric accumulation of Aurora B.
      Title: Identification of a novel nucleolar protein complex required for mitotic chromosome segregation through centromeric accumulation of Aurora B.
    2. NOL11 is a novel protein required for the early stages of ribosome biogenesis in humans and is implicated in the pathogenesis of North American Indian childhood cirrhosis.
      Title: NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp586L0724

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of SSU-rRNA IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of t-UTP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nucleolar protein 11

    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_001303272.2 → NP_001290201.1  nucleolar protein 11 isoform 2

      See identical proteins and their annotated locations for NP_001290201.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC006534, AK299483, AW273123, DA772356
      UniProtKB/Swiss-Prot
      Q9H8H0
      Conserved Domains (1) summary
      pfam08168
      Location:18 → 61
      NUC205; NUC205 domain

    2. NM_015462.5 → NP_056277.2  nucleolar protein 11 isoform 1

      See identical proteins and their annotated locations for NP_056277.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC006534, AK023702, AK299483, AW273123, DA772356
      Consensus CDS
      CCDS11671.1
      UniProtKB/Swiss-Prot
      B7Z5V9, Q7L5S1, Q9H8H0, Q9UG18
      Related
      ENSP00000253247.4, ENST00000253247.9
      Conserved Domains (1) summary
      pfam08168
      Location:200 → 243
      NUC205; NUC205 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      67717936..67744531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      68593485..68619780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8H0.1 GenPept UniProtKB/Swiss-Prot:Q9H8H0

    Gene LinkOut

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

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