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OXSR1 Gene

protein-coding   GIFtS: 62
GCID: GC03P038183

Oxidative Stress Responsive 1

(Previous name: oxidative-stress responsive 1)
(Previous symbol: OSR1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Oxidative Stress Responsive 11 2     EC 2.7.11.13 8
OSR11 2 3 5     Serine/Threonine-Protein Kinase OSR12
Oxidative-Stress Responsive 11 2     KIAA11013
Oxidative Stress-Responsive 1 Protein2 3     EC 2.7.118

External Ids:    HGNC: 85081   Entrez Gene: 99432   Ensembl: ENSG000001729397   OMIM: 6040465   UniProtKB: O957473   

Export aliases for OXSR1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 1) is a protein-coding gene. Diseases associated with OXSR1 include pseudohypoaldosteronism, and hypertension. GO annotations related to this gene include protein serine/threonine kinase activity and magnesium ion binding. An important paralog of this gene is STRADB.

UniProtKB/Swiss-Prot: OXSR1_HUMAN, O95747
Function: Regulates downstream kinases in response to environmental stress. May also have a function in regulating
the actin cytoskeleton

Gene Wiki entry for OXSR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OXSR1 gene promoter:
         E2F-3a   E2F-4   E2F-5   SREBP-1c   E2F-2   E4BP4   SREBP-1b   E2F-1   E2F   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOXSR1 promoter sequence
   Search Chromatin IP Primers for OXSR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OXSR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p22.2   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p22.2

OXSR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OXSR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P038183:  view genomic region     (about GC identifiers)

Start:
38,206,580 bp from pter      End:
38,296,979 bp from pter
Size:
90,400 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: OXSR1_HUMAN, O95747 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase OSR1  
Size: 527 amino acids; 58022 Da
Cofactor: Magnesium
Subunit: Binds to and phosphorylates PAK1. 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. Binds to and phosphorylates RELL1, RELL2 AND RELT
Sequence caution: Sequence=AAP97192.1; Type=Erroneous initiation; Sequence=BAA83053.2; Type=Frameshift;
Positions=63;
3 PDB 3D structures from and Proteopedia for OXSR1:
2V3S (3D)        2VWI (3D)        3DAK (3D)    
Secondary accessions: Q3LR53 Q7Z501 Q9UPQ1

Explore the universe of human proteins at neXtProt for OXSR1: NX_O95747

Explore proteomics data for OXSR1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys184
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OXSR1 (O95747) (see all 17)
     RGYDFKA  KAGNILL  GITAIEL  SSALPWS 


    See OXSR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005100.1  
    ENSEMBL proteins: 
     ENSP00000415851   ENSP00000311713   ENSP00000398356  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: oxidative-stress responsive 1
    FRAY subfamily

    Selected InterPro protein domains (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR028749 Oxsr1
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry O95747

    ProtoNet protein and cluster: O95747

    UniProtKB/Swiss-Prot: OXSR1_HUMAN, O95747
    Similarity: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily
    Similarity: Contains 1 protein kinase domain


    OXSR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OXSR1_HUMAN, O95747
    Function: Regulates downstream kinases in response to environmental stress. May also have a function in regulating
    the actin cytoskeleton
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: By autophosphorylation on threonine

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA14707132
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA14707132
    GO:0004702receptor signaling protein serine/threonine kinase activity IBA--
    GO:0004713protein tyrosine kinase activity ----
         
    OXSR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OXSR1:
     Increased colony dispersion (i 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Oxsr1):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     renal/urinary system 

    OXSR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Oxsr1tm1.2Ssy for OXSR1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OXSR1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OXSR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OXSR1

    miRNA
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    miRTarBase miRNAs that target OXSR1:
    hsa-mir-24-3p (MIRT030472), hsa-mir-26b-5p (MIRT029769), hsa-mir-378a-3p (MIRT043941)

    Block miRNA regulation of human, mouse, rat OXSR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OXSR1 (see all 91):
    hsa-miR-199a-3p hsa-miR-200a hsa-miR-149 hsa-miR-298 hsa-miR-629 hsa-miR-3613-3p hsa-miR-3148 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidOXSR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OXSR1
    Predesigned siRNA for gene silencing in human, mouse, rat OXSR1

    Gene Editing
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    Sino Biological Human cDNA Clone for OXSR1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OXSR1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OXSR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OXSR1_HUMAN, O95747: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion3
    plasma membrane3
    nucleus2
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0070062extracellular vesicular exosome IDA19056867

    OXSR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for OXSR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics
    2Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for OXSR1
        Cytoskeletal Signaling


    1 PharmGKB Pathway for OXSR1
        Diuretics Pathway, Pharmacodynamics


    OXSR1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including OXSR1: 
              Oxidative Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for OXSR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for OXSR1 (O957471, 2, 3 ENSP000003117134) via UniProtKB, MINT, STRING, and/or I2D (see all 797)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WNK4Q96J921, 2, 3, ENSP000002469144EBI-620853,EBI-766352 MINT-5207699 MINT-5207631 MINT-5207540 MINT-5207597 MINT-5207682 MINT-5207580 MINT-5207648 MINT-5207716 MINT-5207665 MINT-5207614 MINT-5207558 I2D: score=1 STRING: ENSP00000246914
    PAK1Q131532, 3, ENSP000002785684MINT-7945693 I2D: score=2 STRING: ENSP00000278568
    UBA5Q9GZZ92, 3MINT-7947479 MINT-7945693 I2D: score=1 
    CAB39Q9Y3761, 2, 3, ENSP000002584184EBI-620853,EBI-306905 MINT-8186566 MINT-8186657 MINT-8186672 I2D: score=1 STRING: ENSP00000258418
    SLC12A2P550111, 2, 3, ENSP000002624614EBI-620853,EBI-2801449 MINT-5207773 MINT-5207788 I2D: score=4 STRING: ENSP00000262461
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation IDA14707132
    GO:0006979response to oxidative stress IEA--
    GO:0023014signal transduction by phosphorylation IBA--
    GO:0035556intracellular signal transduction IDA14707132

    OXSR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OXSR1

    4 HMDB Compounds for OXSR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    ChlorineCl2 (see all 13)16887-00-6--
    MagnesiumMagnesium (see all 2)7439-95-4--

    6 Novoseek inferred chemical compound relationships for OXSR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 74.1 9 16173916 (1), 16734747 (1), 16669787 (1), 17190791 (1) (see all 9)
    thiazide 67.5 1 18270262 (1)
    lysine 57.1 5 16832045 (1), 16669787 (1), 17223794 (1), 18277153 (1)
    chloride 45.3 3 16734747 (1), 16669787 (1)
    threonine 27.7 2 16173916 (1), 16734747 (1)
    serine 25.4 10 16263722 (2), 16083423 (1), 16734747 (1)



    OXSR1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OXSR1 gene: 
    NM_005109.2  

    Unigene Cluster for OXSR1:

    Oxidative-stress responsive 1
    Hs.475970  [show with all ESTs]
    Unigene Representative Sequence: NM_005109
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000492714 ENST00000446845 ENST00000311806(uc003chy.3 uc010hhb.3)
    ENST00000426620(uc010hha.1) ENST00000483695 ENST00000467900
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate OXSR1 (see all 91):
    hsa-miR-199a-3p hsa-miR-200a hsa-miR-149 hsa-miR-298 hsa-miR-629 hsa-miR-3613-3p hsa-miR-3148 hsa-miR-92b
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      QuantiTect SYBR Green Assays in human, mouse, rat OXSR1
      QuantiFast Probe-based Assays in human, mouse, rat OXSR1

    Additional mRNA sequence: 

    AB017642.1 AB029024.1 AF087893.1 AK309634.1 BC008726.2 EF491806.1 EF491821.1 

    7 DOTS entries:

    DT.452024  DT.120847852  DT.75191766  DT.95231885  DT.120847845  DT.75103557  DT.95284602 

    Selected AceView cDNA sequences (see all 183):

    BM550870 BM800036 BC008726 BE302407 AI628009 BQ011845 AI784235 CD521087 
    BE908377 T35193 BQ717345 CA423243 AA237059 AB017642 BQ223736 AB029024 
    BM479021 AI088558 BF591899 AW206657 AW167178 BQ226110 AA810007 BE502111 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OXSR1 expression in normal human tissues (normalized intensities)      OXSR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTCTTCAT
    OXSR1 Expression
    About this image


    OXSR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    OXSR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OXSR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.475970

    UniProtKB/Swiss-Prot: OXSR1_HUMAN, O95747
    Tissue specificity: Ubiquitously expressed in all tissue examined

        Pathway & Disease-focused RT2 Profiler PCR Array including OXSR1: 
              Oxidative Stress in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OXSR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OXSR1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oxsr11 , 5 oxidative-stress responsive 11, 5 90.51(n)1
    95.83(a)1
      9 (71.33 cM)5
    1087371  NM_133985.21  NP_598746.21 
     1192384325 
    chicken
    (Gallus gallus)
    Aves OXSR11 oxidative-stress responsive 1 81.4(n)
    87.86(a)
      420421  XM_418527.2  XP_418527.1 
    lizard
    (Anolis carolinensis)
    Reptilia OXSR16
    oxidative stress responsive 1
    88(a)
    1 ↔ 1
    6(783388-871142)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.123462 Xenopus laevis transcribed sequence with moderate similarity more 78.23(n)    CF288103.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc554942 similar to oxidative-stress responsive 1 76.12(n)   394150  BC044183.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fray1 frayed 56.8(n)
    57.84(a)
      44233  NM_169823.1  NP_732352.1 
    worm
    (Caenorhabditis elegans)
    Secernentea gck-31 gck-3 58.97(n)
    59.04(a)
      190400  NM_075116.4  NP_507517.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SKM16
    CLA46
    Member of the PAK family of serine/threonine prote...
    Cdc42p-activated signal transducing kinase of the ...
    16(a)
    13(a)
    many ↔ many
    many ↔ many
    XV(104326-106293) YOL113W
    XIV(68915-71443) YNL298W
    soybean
    (Glycine max)
    eudicotyledons BM527293.12   -- 72.98(n)    BM527293.1 
    rice
    (Oryza sativa)
    Liliopsida Os.186002 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.03(n)    AK065283.1 


    ENSEMBL Gene Tree for OXSR1 (if available)
    TreeFam Gene Tree for OXSR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OXSR1 gene
    STRADB2  STRADA2  STK392  
    Selected SIMAP similar genes for OXSR1 using alignment to 4 protein entries:     OXSR1_HUMAN (see all proteins) (see all similar genes):
    STK39    PAK2    MAPK8    PAK1    STK11    MST4
    MAP4K5    STRADA    MYO3A    NEK6    MAP4K3    PAK4
    STK25    CAMK1    STK4    MARK4    NEK7    DKFZp564L2416

    OXSR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OXSR1 (see all 1654)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0409694
    A metastatic melanoma sample4--see VAR_0409692 P S mis40--------
    rs1850527731,2
    --38205359(+) GTCTAC/TGTGCC 1 -- us2k10--------
    rs341773351,2
    C--38205521(+) AGGGGTTCA/-  
            
    TTAAC
    1 -- us2k15Minor allele frequency- -:0.00NS 190
    rs286319551,2
    C,F--38205733(+) TCACTG/ACAACC 1 -- us2k1 tfbs37Minor allele frequency- A:0.03NS WA 308
    rs1895194971,2
    --38206158(+) AACCCC/GCAAAT 1 -- us2k10--------
    rs357183801,2
    C,F--38206223(+) GACAAC/TCTCCC 1 -- us2k15Minor allele frequency- T:0.01NS 186
    rs350718121,2
    C,F--38206356(+) CCTTG-/AAAAAA 1 -- us2k15Minor allele frequency- A:0.02NS 186
    rs1870341671,2
    --38206453(+) TACCCC/GACCCA 1 -- us2k10--------
    rs351180991,2
    C,F--38206562(+) ACGAGC/GGCGGT 1 -- us2k16Minor allele frequency- G:0.02NS EA 280
    rs344666981,2
    C,F--38206702(+) AATGCG/CACGAC 1 -- us2k16Minor allele frequency- C:0.02NS NA 286

    HapMap Linkage Disequilibrium report for OXSR1 (38206580 - 38296979 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for OXSR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3768CNV Insertion18451855
    esv274896CNV Loss21479260

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OXSR1
    DNA2.0 Custom Variant and Variant Library Synthesis for OXSR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604046    OMIM disorders: --

    10 diseases for OXSR1:    About MalaCards
    pseudohypoaldosteronism    hypertension    tonsillitis    schizophrenia
    melanoma    thyroiditis    cerebritis    malaria
    prostatitis    endotheliitis


    OXSR1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: OXSR1 (1 document)

    Export disorders for OXSR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OXSR1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with OXSR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of a novel serine threonine kinase gene on chromosome 3p22-21.3. (PubMed id 10083736)1, 2, 3 Tamari M.... Nakamura Y. (J. Hum. Genet. 1999)
    2. Identification of RELT homologues that associate with RELT and are phosphorylated by OSR1. (PubMed id 16389068)1, 2 Cusick J.K.... Shu H.-B. (Biochem. Biophys. Res. Commun. 2006)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Characterization of OSR1, a member of the mammalian Ste20p/germinal center kinase subfamily. (PubMed id 14707132)1, 2 Chen W.... Cobb M.H. (J. Biol. Chem. 2004)
    6. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R.... Ohara O. (DNA Res. 1999)
    7. Functional interactions of the SPAK/OSR1 kinases with their upstream activator WNK1 and downstream substrate NKCC1. (PubMed id 16669787)1, 9 Vitari A.C....Alessi D.R. (Biochem. J. 2006)
    8. WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1. (PubMed id 16263722)1, 9 Moriguchi T....Shibuya H. (J. Biol. Chem. 2005)
    9. WNK1 and OSR1 regulate the Na+, K+, 2Cl- cotransporter in HeLa cells. (PubMed id 16832045)1, 9 Anselmo A.N....Cobb M.H. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    10. Activation of the thiazide-sensitive Na+-Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1. (PubMed id 18270262)1, 9 Richardson C....Alessi D.R. (J. Cell. Sci. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9943 HGNC: 8508 AceView: OSR1 Ensembl:ENSG00000172939 euGenes: HUgn9943
    ECgene: OXSR1 H-InvDB: OXSR1

    (According to HUGE)
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    HUGE: KIAA1101

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OXSR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for OXSR1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/oxsr1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OXSR1 gene:
    Search GeneIP for patents involving OXSR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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