The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008] See more...

Aliases for OXSR1 Gene

Aliases for OXSR1 Gene

  • Oxidative Stress Responsive Kinase 1 2 3 5
  • Oxidative Stress-Responsive 1 Protein 3 4
  • Serine/Threonine-Protein Kinase OSR1 3 4
  • EC 2.7.11.1 4 50
  • KIAA1101 2 4
  • OSR1 3 4
  • Oxidative-Stress Responsive 1 2
  • Oxidative Stress Responsive 1 3
  • EC 2.7.11 50
  • OXSR1 5

External Ids for OXSR1 Gene

Previous HGNC Symbols for OXSR1 Gene

  • OSR1

Summaries for OXSR1 Gene

Entrez Gene Summary for OXSR1 Gene

  • The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008]

GeneCards Summary for OXSR1 Gene

OXSR1 (Oxidative Stress Responsive Kinase 1) is a Protein Coding gene. Diseases associated with OXSR1 include Hypomagnesemia 4, Renal and Hypomagnesemia 3, Renal. Among its related pathways are Cytoskeletal Signaling and Diuretics Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is STK39.

UniProtKB/Swiss-Prot Summary for OXSR1 Gene

  • Phosphorylates RELL1, RELL2 and RELT (PubMed:16389068, PubMed:28688764). Phosphorylates PAK1 (PubMed:14707132). Phosphorylates PLSCR1 in the presence of RELT (PubMed:22052202).

Gene Wiki entry for OXSR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OXSR1 Gene

Genomics for OXSR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OXSR1 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 OXSR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OXSR1

Top Transcription factor binding sites by QIAGEN in the OXSR1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E4BP4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for OXSR1 Gene

Latest Assembly
chr3:38,165,051-38,255,486
(GRCh38/hg38)
Size:
90,436 bases
Orientation:
Plus strand

Previous Assembly
chr3:38,207,028-38,296,975
(GRCh37/hg19 by Entrez Gene)
Size:
89,948 bases
Orientation:
Plus strand

chr3:38,206,580-38,296,979
(GRCh37/hg19 by Ensembl)
Size:
90,400 bases
Orientation:
Plus strand

Genomic View for OXSR1 Gene

Genes around OXSR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXSR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OXSR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXSR1 Gene

Proteins for OXSR1 Gene

  • Protein details for OXSR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95747-OXSR1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase OSR1
    Protein Accession:
    O95747
    Secondary Accessions:
    • Q3LR53
    • Q7Z501
    • Q9UPQ1

    Protein attributes for OXSR1 Gene

    Size:
    527 amino acids
    Molecular mass:
    58022 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with PAK1 (PubMed:14707132). Interacts with chloride channel proteins SLC12A6 isoform 2, SLC12A1 and SLC12A2 but not with SLC12A4 and SLC12A7, possibly establishing sensor/signaling modules that initiate the cellular response to environmental stress (By similarity). Interacts with RELL1, RELL2 and RELT (PubMed:16389068). Interacts with PLSCR1 in the presence of RELT (PubMed:22052202).
    SequenceCaution:
    • Sequence=AAP97192.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA83053.2; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OXSR1 Gene

neXtProt entry for OXSR1 Gene

Selected DME Specific Peptides for OXSR1 Gene

O95747:
  • RGYDFKA
  • RPTAAELL
  • KAGNILL
  • KELNDIRFEFTPGRDTA
  • KFFQKAKN
  • GITAIEL
  • KLIGFAQLS
  • VAIKRINLEKCQTSMDELLKEIQAMSQC
  • SSALPWS
  • ILLGEDG
  • YELQEVIGSGATAVVQAA
  • KKYGKSFRK
  • VIVAANLQKIV
  • SLCLQKDP
  • AAISQLRSPRVK
  • YYTSFVVKDELWLVMKLLSGGS
  • KKVRRVPGSSGRLHKTEDGGWEWSDDEFDEESEEG

Post-translational modifications for OXSR1 Gene

Protein products for research

  • Abcam proteins for OXSR1

Domains & Families for OXSR1 Gene

Gene Families for OXSR1 Gene

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

Suggested Antigen Peptide Sequences for OXSR1 Gene

GenScript: Design optimal peptide antigens:
  • Oxidative stress-responsive 1 protein (OXSR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95747

UniProtKB/Swiss-Prot:

OXSR1_HUMAN :
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
genes like me logo Genes that share domains with OXSR1: view

Function for OXSR1 Gene

Molecular function for OXSR1 Gene

UniProtKB/Swiss-Prot Function:
Phosphorylates RELL1, RELL2 and RELT (PubMed:16389068, PubMed:28688764). Phosphorylates PAK1 (PubMed:14707132). Phosphorylates PLSCR1 in the presence of RELT (PubMed:22052202).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:14707132};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:14707132};.
UniProtKB/Swiss-Prot EnzymeRegulation:
By autophosphorylation on threonine.

Enzyme Numbers (IUBMB) for OXSR1 Gene

Phenotypes From GWAS Catalog for OXSR1 Gene

Gene Ontology (GO) - Molecular Function for OXSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 14707132
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,IMP 16669787
GO:0005515 protein binding IPI 16669787
genes like me logo Genes that share ontologies with OXSR1: view
genes like me logo Genes that share phenotypes with OXSR1: view

Animal Models for OXSR1 Gene

MGI Knock Outs for OXSR1:

Animal Models for research

  • Taconic Biosciences Mouse Models for OXSR1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXSR1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OXSR1 Gene

Localization for OXSR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXSR1 Gene

Cytoplasm.

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 OXSR1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OXSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with OXSR1: view

Pathways & Interactions for OXSR1 Gene

genes like me logo Genes that share pathways with OXSR1: view

Pathways by source for OXSR1 Gene

1 PharmGKB pathway for OXSR1 Gene
1 Cell Signaling Technology pathway for OXSR1 Gene

SIGNOR curated interactions for OXSR1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for OXSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IDA 14707132
GO:0006979 response to oxidative stress IEA --
GO:0007165 signal transduction IMP 16669787
GO:0007231 osmosensory signaling pathway IMP 16669787
GO:0010820 positive regulation of T cell chemotaxis IEA,IMP 27400149
genes like me logo Genes that share ontologies with OXSR1: view

Drugs & Compounds for OXSR1 Gene

(8) Drugs for OXSR1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
Chloride ion Experimental Pharma 0
ATP Investigational Nutra 0

(3) Additional Compounds for OXSR1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with OXSR1: view

Transcripts for OXSR1 Gene

mRNA/cDNA for OXSR1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXSR1

Alternative Splicing Database (ASD) splice patterns (SP) for OXSR1 Gene

No ASD Table

Relevant External Links for OXSR1 Gene

GeneLoc Exon Structure for
OXSR1

Expression for OXSR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OXSR1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OXSR1 Gene



Protein tissue co-expression partners for OXSR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OXSR1

SOURCE GeneReport for Unigene cluster for OXSR1 Gene:

Hs.475970

mRNA Expression by UniProt/SwissProt for OXSR1 Gene:

O95747-OXSR1_HUMAN
Tissue specificity: Ubiquitously expressed in all tissue examined.

Evidence on tissue expression from TISSUES for OXSR1 Gene

  • Liver(4.3)
  • Kidney(2.4)
  • Nervous system(2.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with OXSR1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OXSR1 Gene

Orthologs for OXSR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OXSR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OXSR1 29 30
  • 99.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OXSR1 29 30
  • 93.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OXSR1 29 30
  • 93.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Oxsr1 29
  • 90.58 (n)
Mouse
(Mus musculus)
Mammalia Oxsr1 29 16 30
  • 90.51 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OXSR1 30
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OXSR1 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves OXSR1 29 30
  • 81.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OXSR1 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stk39 29
  • 75.37 (n)
Str.5309 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.12346 29
Zebrafish
(Danio rerio)
Actinopterygii oxsr1a 30
  • 82 (a)
OneToMany
oxsr1b 30
  • 82 (a)
OneToMany
zgc55494 29
Fruit Fly
(Drosophila melanogaster)
Insecta fray 29 30
  • 56.8 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006715 29
  • 54.04 (n)
Worm
(Caenorhabditis elegans)
Secernentea gck-3 29 30
  • 58.97 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SKM1 30
  • 16 (a)
ManyToMany
CLA4 30
  • 13 (a)
ManyToMany
Rice
(Oryza sativa)
Liliopsida Os.18600 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9457 30
  • 61 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5075 29
Species where no ortholog for OXSR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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)

Evolution for OXSR1 Gene

ENSEMBL:
Gene Tree for OXSR1 (if available)
TreeFam:
Gene Tree for OXSR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OXSR1: view image
Alliance of Genome Resources:
Additional Orthologs for OXSR1

Paralogs for OXSR1 Gene

(35) SIMAP similar genes for OXSR1 Gene using alignment to 4 proteins:

  • OXSR1_HUMAN
  • C9JIG9_HUMAN
  • F8WBK9_HUMAN
  • L8ECC0_HUMAN
genes like me logo Genes that share paralogs with OXSR1: view

Variants for OXSR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OXSR1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
VAR_040969 A metastatic melanoma sample p.Pro433Ser
rs35295772 -- p.Ser425Thr
rs6599079 -- p.Thr304Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OXSR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OXSR1 Gene

Variant ID Type Subtype PubMed ID
esv274896 CNV loss 21479260
esv3568700 CNV loss 25503493
esv3595905 OTHER inversion 21293372
nsv3768 CNV insertion 18451855

Variation tolerance for OXSR1 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.02; 84.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OXSR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXSR1
Leiden Open Variation Database (LOVD)
OXSR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXSR1 Gene

Disorders for OXSR1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for OXSR1 Gene - From: COP

Disorder Aliases PubMed IDs
hypomagnesemia 4, renal
  • homg4
hypomagnesemia 3, renal
  • homg3
arthrogryposis, distal, type 3
  • da3
bartter disease
  • aldosteronism with hyperplasia of the adrenal cortex
distal arthrogryposis
  • arthrogryposis multiplex congenita
- elite association - COSMIC cancer census association via MalaCards
Search OXSR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OXSR1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OXSR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OXSR1 Gene

Publications for OXSR1 Gene

  1. Isolation and characterization of a novel serine threonine kinase gene on chromosome 3p22-21.3. (PMID: 10083736) Tamari M … Nakamura Y (Journal of human genetics 1999) 2 3 4
  2. Identification of PLSCR1 as a protein that interacts with RELT family members. (PMID: 22052202) Cusick JK … Reyland ME (Molecular and cellular biochemistry 2012) 3 4
  3. Activation of the thiazide-sensitive Na+-Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1. (PMID: 18270262) Richardson C … Alessi DR (Journal of cell science 2008) 3 22
  4. Structural insights into the recognition of substrates and activators by the OSR1 kinase. (PMID: 17721439) Villa F … van Aalten DM (EMBO reports 2007) 3 22
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for OXSR1 Gene

Sources for OXSR1 Gene