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    PNO1 partner of NOB1 homolog [ Homo sapiens (human) ]

    Gene ID: 56902, updated on 28-Oct-2024

    Summary

    Official Symbol
    PNO1provided by HGNC
    Official Full Name
    partner of NOB1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:32790
    See related
    Ensembl:ENSG00000115946 MIM:618710; AllianceGenome:HGNC:32790
    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
    RRP20; KHRBP1
    Summary
    Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nucleolus and nucleoplasm. Part of small-subunit processome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.8), adrenal (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PNO1 in Genome Data Viewer
    Location:
    2p14
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68157888..68176238)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68168438..68186793)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68385020..68403370)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 64 Neighboring gene dynein axonemal assembly factor 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:68383902-68384834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59016 Neighboring gene VISTA enhancer hs2040 Neighboring gene protein phosphatase 3 regulatory subunit B, alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:68432700-68433200 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59162 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59182 Neighboring gene uncharacterized LOC107985892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:68480114-68480783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11589 Neighboring gene cannabinoid receptor interacting protein 1 Neighboring gene Sharpr-MPRA regulatory region 10638

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    RNA-binding protein PNO1
    Names
    KH-type RNA-binding protein 1
    RNA binding protein

    NCBI Reference Sequences (RefSeq)

    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_001329916.2NP_001316845.1  RNA-binding protein PNO1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC017083
      UniProtKB/TrEMBL
      B2R823
    2. NM_001329917.2NP_001316846.1  RNA-binding protein PNO1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC017083
      UniProtKB/TrEMBL
      B2R823
    3. NM_020143.4NP_064528.1  RNA-binding protein PNO1 isoform 1

      See identical proteins and their annotated locations for NP_064528.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC017083, BC008304
      Consensus CDS
      CCDS1885.1
      UniProtKB/Swiss-Prot
      A8K6Q0, Q53G13, Q8WVB8, Q9NRX1
      UniProtKB/TrEMBL
      B2R823
      Related
      ENSP00000263657.2, ENST00000263657.7
      Conserved Domains (2) summary
      cd22391
      Location:73152
      KH-I_PNO1_rpt1; first type I K homology (KH) RNA-binding domain found in partner of NOB1 (PNO1) and similar proteins
      cd22392
      Location:154249
      KH-I_PNO1_rpt2; second type I K homology (KH) RNA-binding domain found in partner of NOB1 (PNO1) and similar proteins

    RNA

    1. NR_138146.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC017083

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      68157888..68176238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      68168438..68186793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)