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    RIOK1 RIO kinase 1 [ Homo sapiens (human) ]

    Gene ID: 83732, updated on 17-Jun-2024

    Summary

    Official Symbol
    RIOK1provided by HGNC
    Official Full Name
    RIO kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:18656
    See related
    Ensembl:ENSG00000124784 MIM:617753; AllianceGenome:HGNC:18656
    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
    RIO1; AD034; RRP10; bA288G3.1
    Summary
    The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in testis (RPKM 12.9), bone marrow (RPKM 9.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RIOK1 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7389808..7418037)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7258847..7287080)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7390041..7418270)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cancer antigen 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:7342644-7342806 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:7346982-7347886 Neighboring gene ACCSL pseudogene 1 Neighboring gene ribosomal protein S3 pseudogene 4 Neighboring gene MPRA-validated peak5644 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7389927-7390713 Neighboring gene NANOG hESC enhancer GRCh37_chr6:7413126-7413896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7425815-7426316 Neighboring gene uncharacterized LOC102724234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7456191-7456810 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:7464142-7465134 Neighboring gene heterogeneous nuclear ribonucleoprotein L pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30006, MGC12903

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ribosomal small subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of methyltransferase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of preribosome, small subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of preribosome, small subunit precursor IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    serine/threonine-protein kinase RIO1
    NP_001335123.1
    NP_113668.2
    XP_011513235.2
    XP_054212486.1

    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_001348194.2NP_001335123.1  serine/threonine-protein kinase RIO1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL138878, AL139095
      Conserved Domains (1) summary
      cd05147
      Location:78267
      RIO1_euk; Catalytic domain of the atypical protein serine kinase, Eukaryotic RIO1 kinase
    2. NM_031480.3NP_113668.2  serine/threonine-protein kinase RIO1 isoform 1

      See identical proteins and their annotated locations for NP_113668.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL138878, AL139095
      Consensus CDS
      CCDS4500.1
      UniProtKB/Swiss-Prot
      B2RB28, Q8NDC8, Q96NV9, Q9BRS2
      Related
      ENSP00000369162.2, ENST00000379834.7
      Conserved Domains (1) summary
      cd05147
      Location:182371
      RIO1_euk; Catalytic domain of the atypical protein serine kinase, Eukaryotic RIO1 kinase

    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
      7389808..7418037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514933.4XP_011513235.2  serine/threonine-protein kinase RIO1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      7258847..7287080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356511.1XP_054212486.1  serine/threonine-protein kinase RIO1 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153005.1: Suppressed sequence

      Description
      NM_153005.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.