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RIOK1 RIO kinase 1 [ Homo sapiens (human) ]

Gene ID: 83732, updated on 1-Jun-2020

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
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

Genomic context

See RIOK1 in Genome Data Viewer
Location:
6p24.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (7389808..7418037)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7390062..7418270)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like pseudogene Neighboring gene cancer antigen 1 Neighboring gene ribosomal protein S3 pseudogene 4 Neighboring gene uncharacterized LOC102724234 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

Homology

Clone Names

  • FLJ30006, MGC12903

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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_001348194.1NP_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
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011514933.3XP_011513235.2  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.
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