RIOK3 RIO kinase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RIOK3provided by HGNC
Official Full Name: RIO kinase 3provided by HGNC
Primary source: HGNC:HGNC:11451
See related: Ensembl:ENSG00000101782 MIM:603579; AllianceGenome:HGNC:11451
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: SUDD
Summary: This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]
Expression: Ubiquitous expression in bone marrow (RPKM 81.4), esophagus (RPKM 38.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q11.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (23453287..23483140)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (23647357..23677204)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (21033251..21063104)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alternative Splicing of RIOK3 Engages the Noncanonical NFkappaB Pathway during Rift Valley Fever Virus Infection.
Title: Alternative Splicing of RIOK3 Engages the Noncanonical NFκB Pathway during Rift Valley Fever Virus Infection.
RIOK3 promotes mTORC1 activation by facilitating SLC7A2-mediated arginine uptake in pancreatic ductal adenocarcinoma.
Title: RIOK3 promotes mTORC1 activation by facilitating SLC7A2-mediated arginine uptake in pancreatic ductal adenocarcinoma.
The Atypical Kinase RIOK3 Limits RVFV Propagation and Is Regulated by Alternative Splicing.
Title: The Atypical Kinase RIOK3 Limits RVFV Propagation and Is Regulated by Alternative Splicing.
RIO kinase 3 (RIOK3) positively regulates the activity of the AKT/mTOR pathway in glioma cells.
Title: The atypical protein kinase RIOK3 contributes to glioma cell proliferation/survival, migration/invasion and the AKT/mTOR signaling pathway.
the ectopic expression of RIOK3 or a phosphomimetic MDA5-S828D mutation attenuated MDA5-mediated signaling.
Title: RIOK3-mediated phosphorylation of MDA5 interferes with its assembly and attenuates the innate immune response.
These findings demonstrate that RIOK3 is necessary for maintaining actin cytoskeletal organisation required for migration and invasion, biological processes that are necessary for hypoxia-driven metastasis.
Title: Hypoxic regulation of RIOK3 is a major mechanism for cancer cell invasion and metastasis.
Functionally, RIOK3 acts as a SUFU-dependent positive regulator of Hedgehog signaling.
Title: RIO kinase 3 acts as a SUFU-dependent positive regulator of Hedgehog signaling.
Authors found that RIOK3 physically interacts with TBK1 and IRF3 and bridges the functions between TBK1 and IRF3 in the activation of type I interferon pathway.
Title: RIOK3 is an adaptor protein required for IRF3-mediated antiviral type I interferon production.
RioK3 is a novel cytoplasmic component of pre-40S pre-ribosomal particle(s) in human cells, required for normal processing of the 21S pre-rRNA.
Title: Human RioK3 is a novel component of cytoplasmic pre-40S pre-ribosomal particles.
Like RIOK3, PAK4 promotes pancreas ductal cell motility and invasion in pancreatic cancer
Title: Genomic alterations link Rho family of GTPases to the highly invasive phenotype of pancreas cancer.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-67307 (e-PCR)
- UniSTS:89991

D15S1390 (e-PCR)
- UniSTS:474340

RH11856 (e-PCR)
- UniSTS:86248

MARC_21325-21326:1032965451:1 (e-PCR)
- UniSTS:268530

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables caspase binding	IDA Inferred from Direct Assay more info	PubMed
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
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to dsDNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	TAS Traceable Author Statement more info	PubMed
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
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 negative regulation of MDA-5 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interferon-beta production	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	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

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Preferred Names: serine/threonine-protein kinase RIO3

Names: homolog of the Aspergillus nidulans sudD gene product; sudD (suppressor of bimD6, Aspergillus nidulans) homolog; sudD homolog; sudD suppressor of Aspergillus nidulans bimD6 homolog; sudD suppressor of bimD6 homolog; testicular secretory protein Li 47

NP_001335122.1

EC 2.7.11.1

NP_003822.2

EC 2.7.11.1

XP_011524545.1

EC 2.7.11.1

XP_047293868.1

EC 2.7.11.1

XP_047293869.1

EC 2.7.11.1

XP_054175288.1

EC 2.7.11.1

XP_054175289.1

EC 2.7.11.1

XP_054175290.1

EC 2.7.11.1

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)

NM_001348193.2 → NP_001335122.1 serine/threonine-protein kinase RIO3 isoform 2

Status: REVIEWED

Source sequence(s)

AC026634, AK057292

Consensus CDS

CCDS86664.1

UniProtKB/TrEMBL

B4E1Q4, I6L994

Related

ENSP00000463660.1, ENST00000581585.5

Conserved Domains (1) summary

cd05146
Location:237 → 437

RIO3_euk; Catalytic domain of the atypical protein serine kinase, RIO3 kinase
NM_003831.5 → NP_003822.2 serine/threonine-protein kinase RIO3 isoform 1

See identical proteins and their annotated locations for NP_003822.2

Status: REVIEWED

Source sequence(s)

AC026634, AK057292

Consensus CDS

CCDS11877.1

UniProtKB/Swiss-Prot

O14730, Q8IXN9

UniProtKB/TrEMBL

B0YJ89, I6L994

Related

ENSP00000341874.3, ENST00000339486.8

Conserved Domains (2) summary

COG1718
Location:214 → 465

RIO1; Serine/threonine-protein kinase RIO1 [Signal transduction mechanisms]

cd05146
Location:253 → 453

RIO3_euk; Catalytic domain of the atypical protein serine kinase, RIO3 kinase

RNA

NR_145477.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC026634

Related

ENST00000581302.5

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

23453287..23483140

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437912.1 → XP_047293868.1 serine/threonine-protein kinase RIO3 isoform X1
XM_011526243.2 → XP_011524545.1 serine/threonine-protein kinase RIO3 isoform X3

UniProtKB/TrEMBL

B4E350

Conserved Domains (1) summary

cl21453
Location:69 → 197

PKc_like; Protein Kinases, catalytic domain
XM_047437913.1 → XP_047293869.1 serine/threonine-protein kinase RIO3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

23647357..23677204

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319313.1 → XP_054175288.1 serine/threonine-protein kinase RIO3 isoform X1
XM_054319315.1 → XP_054175290.1 serine/threonine-protein kinase RIO3 isoform X3
XM_054319314.1 → XP_054175289.1 serine/threonine-protein kinase RIO3 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_145906.1: Suppressed sequence

Description

NM_145906.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.