RIOX1 Gene (Protein Coding)

Ribosomal Oxygenase 1

GC14P073492
GIFtS:
23
See more...

Aliases for RIOX1 Gene

Aliases for RIOX1 Gene

  • Ribosomal Oxygenase 1 2 3 4 5
  • Nucleolar Protein 66 2 3 4
  • MAPJD 2 3 4
  • NO66 2 3 4
  • Bifunctional Lysine-Specific Demethylase And Histidyl-Hydroxylase NO66 3 4
  • 60S Ribosomal Protein L8 Histidine Hydroxylase 3 4
  • Myc-Associated Protein With JmjC Domain 2 4
  • Histone Lysine Demethylase NO66 3 4
  • Ribosomal Oxygenase NO66 3 4
  • C14orf169 3 4
  • HsNO66 3 4
  • JMJD9 2 3
  • ROX 3 4
  • MYC-Associated Protein With JmjC Domain 3
  • Chromosome 14 Open Reading Frame 169 2
  • Lysine-Specific Demethylase NO66 3
  • Up-Regulated In Lung Cancer 2 3
  • EC 1.14.11.27 4
  • EC 1.14.11.- 4
  • FLJ21802 2
  • URLC2 3
  • RIOX1 5

External Ids for RIOX1 Gene

Previous HGNC Symbols for RIOX1 Gene

  • C14orf169

Summaries for RIOX1 Gene

GeneCards Summary for RIOX1 Gene

RIOX1 (Ribosomal Oxygenase 1) is a Protein Coding gene. Diseases associated with RIOX1 include Progressive Myoclonus Epilepsy 7 and Lung Cancer. Among its related pathways are Chromatin Regulation / Acetylation. An important paralog of this gene is RIOX2.

UniProtKB/Swiss-Prot Summary for RIOX1 Gene

  • Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates 'Lys-4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His-216'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation (By similarity). May also play a role in ribosome biogenesis and in the replication or remodeling of certain heterochromatic region. Participates in MYC-induced transcriptional activation.

Additional gene information for RIOX1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIOX1 Gene

Genomics for RIOX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RIOX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIOX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIOX1

Genomic Locations for RIOX1 Gene

Genomic Locations for RIOX1 Gene
chr14:73,490,933-73,493,394
(GRCh38/hg38)
Size:
2,462 bases
Orientation:
Plus strand
chr14:73,957,644-73,960,105
(GRCh37/hg19)
Size:
2,462 bases
Orientation:
Plus strand

Genomic View for RIOX1 Gene

Genes around RIOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIOX1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RIOX1 Gene

Proteins for RIOX1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RIOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6W3-RIOX1_HUMAN
    Recommended name:
    Ribosomal oxygenase 1
    Protein Accession:
    Q9H6W3
    Secondary Accessions:
    • B4DT02

    Protein attributes for RIOX1 Gene

    Size:
    641 amino acids
    Molecular mass:
    71086 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Interacts with SP7/OSX; the interaction is direct (By similarity). Interacts with MYC. Interacts with PHF19; leading to its recruitment to H3K36me3 sites.

    Three dimensional structures from OCA and Proteopedia for RIOX1 Gene

    Alternative splice isoforms for RIOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIOX1 Gene

Post-translational modifications for RIOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIOX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RIOX1 Gene

Domains & Families for RIOX1 Gene

Gene Families for RIOX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RIOX1 Gene

InterPro:
Blocks:
  • Transcription factor jumonji, jmjC
  • Cupin 4
ProtoNet:

Suggested Antigen Peptide Sequences for RIOX1 Gene

GenScript: Design optimal peptide antigens:
  • Nucleolar protein 66 (NO66_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H6W3

UniProtKB/Swiss-Prot:

RIOX1_HUMAN :
  • Belongs to the ROX family. NO66 subfamily.
Family:
  • Belongs to the ROX family. NO66 subfamily.
genes like me logo Genes that share domains with RIOX1: view

Function for RIOX1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for RIOX1 Gene

UniProtKB/Swiss-Prot Function:
Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates 'Lys-4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His-216'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation (By similarity). May also play a role in ribosome biogenesis and in the replication or remodeling of certain heterochromatic region. Participates in MYC-induced transcriptional activation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(36)-[histone H3] + 2 succinate; Xref=Rhea:RHEA:42032, Rhea:RHEA-COMP:9785, Rhea:RHEA-COMP:9787, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:61976; EC=1.14.11.27; Evidence={ECO:0000269|PubMed:23103944};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-histidyl-[protein] + O2 = (3S)-3-hydroxy-L-histidyl-[protein] + CO2 + succinate; Xref=Rhea:RHEA:54256, Rhea:RHEA-COMP:9745, Rhea:RHEA-COMP:13840, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:29979, ChEBI:CHEBI:30031, ChEBI:CHEBI:138021; Evidence={ECO:0000269|PubMed:23103944};.

Enzyme Numbers (IUBMB) for RIOX1 Gene

Phenotypes From GWAS Catalog for RIOX1 Gene

Gene Ontology (GO) - Molecular Function for RIOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA,ISS --
GO:0005515 protein binding IPI 19927124
GO:0016491 oxidoreductase activity IEA --
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IEA,ISS --
GO:0032453 histone demethylase activity (H3-K4 specific) IEA,ISS --
genes like me logo Genes that share ontologies with RIOX1: view
genes like me logo Genes that share phenotypes with RIOX1: view

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RIOX1 Gene

Localization for RIOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIOX1 Gene

Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Granular part of nucleoli. Nucleoplasm, nucleoplasmic foci, some of them associated with nucleoli.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIOX1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RIOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA,IDA --
genes like me logo Genes that share ontologies with RIOX1: view

Pathways & Interactions for RIOX1 Gene

PathCards logo

SuperPathways for RIOX1 Gene

genes like me logo Genes that share pathways with RIOX1: view

Pathways by source for RIOX1 Gene

1 Cell Signaling Technology pathway for RIOX1 Gene

Gene Ontology (GO) - Biological Process for RIOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0034720 histone H3-K4 demethylation IEA,ISS --
GO:0045668 negative regulation of osteoblast differentiation IEA,ISS --
GO:0045892 negative regulation of transcription, DNA-templated IEA,ISS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with RIOX1: view

No data available for SIGNOR curated interactions for RIOX1 Gene

Drugs & Compounds for RIOX1 Gene

Products:

  1. Drug

(4) Drugs for RIOX1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formaldehyde Approved, Vet_approved Pharma 142
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra Agonist, Full agonist 0
Oxogluric acid Experimental, Investigational Nutra 0
genes like me logo Genes that share compounds with RIOX1: view

Transcripts for RIOX1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RIOX1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for RIOX1 Gene

No ASD Table

Relevant External Links for RIOX1 Gene

GeneLoc Exon Structure for
RIOX1

Expression for RIOX1 Gene

Products:

  1. Primer

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIOX1

mRNA Expression by UniProt/SwissProt for RIOX1 Gene:

Q9H6W3-RIOX1_HUMAN
Tissue specificity: Widely expressed. Overexpressed in lung carcinomas.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIOX1 Gene

Orthologs for RIOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIOX1 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia C8H14orf169 30
  • 89.83 (n)
Cow
(Bos Taurus)
 Mammalia NO66 30
  • 87.47 (n)
Rat
(Rattus norvegicus)
 Mammalia RGD1307704 30
  • 82.94 (n)
Mouse
(Mus musculus)
 Mammalia 2410016O06Rik 30
  • 81.91 (n)
Riox1 17
Chicken
(Gallus gallus)
 Aves C5H14ORF169 30
  • 64.03 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100488246 30
  • 59.12 (n)
Zebrafish
(Danio rerio)
 Actinopterygii zgc:162967 30
  • 56.92 (n)
Dr.4334 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001938 30
  • 54.17 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG2982 30
  • 51.89 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4160 30
Species where no ortholog for RIOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RIOX1 Gene

ENSEMBL:
Gene Tree for RIOX1 (if available)
TreeFam:
Gene Tree for RIOX1 (if available)

Paralogs for RIOX1 Gene

Paralogs for RIOX1 Gene

genes like me logo Genes that share paralogs with RIOX1: view

Variants for RIOX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIOX1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
768664 Benign: not provided 73,491,111(+) C/A MISSENSE_VARIANT,INTRON_VARIANT
788892 Benign: not provided 73,492,604(+) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT
rs10144469 - p.Lys17Arg
rs34970526 - p.Gln239His
rs3813563 - p.Val364Ala

Additional dbSNP identifiers (rs#s) for RIOX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RIOX1 Gene

Variant ID Type Subtype PubMed ID
esv3892561 CNV gain 25118596
nsv1035460 CNV gain 25217958
nsv510643 CNV deletion 20534489

Additional Variant Information for RIOX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RIOX1 Gene

Disorders for RIOX1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RIOX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
progressive myoclonus epilepsy 7
  • epm7
lung cancer
  • adenocarcinoma of lung
familial isolated hypoparathyroidism
  • fih
- elite association - COSMIC cancer census association via MalaCards
Search RIOX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RIOX1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RIOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIOX1 Gene

Publications for RIOX1 Gene

  1. Identification of Myc-associated protein with JmjC domain as a novel therapeutic target oncogene for lung cancer. (PMID: 17308053) Suzuki C … Daigo Y (Molecular cancer therapeutics 2007) 2 3 4
  2. Structure-function relationships of human JmjC oxygenases-demethylases versus hydroxylases. (PMID: 27309310) Markolovic S … Schofield CJ (Current opinion in structural biology 2016) 2 3
  3. Polycomb PHF19 binds H3K36me3 and recruits PRC2 and demethylase NO66 to embryonic stem cell genes during differentiation. (PMID: 23160351) Brien GL … Bracken AP (Nature structural & molecular biology 2012) 3 4
  4. Purification, crystallization and preliminary crystallographic analysis of histone lysine demethylase NO66 from Homo sapiens. (PMID: 22750859) Zhou X … Zang J (Acta crystallographica. Section F, Structural biology and crystallization communications 2012) 2 3
  5. Regulation of the osteoblast-specific transcription factor Osterix by NO66, a Jumonji family histone demethylase. (PMID: 19927124) Sinha KM … de Crombrugghe B (The EMBO journal 2010) 2 3

ExternalLinks

View latest publications for RIOX1 gene in Mastermind

Products for RIOX1 Gene

Sources for RIOX1 Gene