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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OSR1 Gene

protein-coding   GIFtS: 55
GCID: GC02M019551

odd-skipped related 1 (Drosophila)

(Previous name: odd-skipped (Drosophila) homolog )
(Previous symbol: ODD)
 Explore 5 diseases affiliated with
OSR1 via our new
 Human Malady Compendium 
Biological research products
for OSR1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Odd-Skipped Related 1 (Drosophila)1 2
ODD1 2 3 5
Odd-Skipped (Drosophila) Homolog1
Odd-Skipped Homolog2
Protein Odd-Skipped-Related 12

External Ids:    HGNC: 81111   Entrez Gene: 1304972   Ensembl: ENSG000001438677   OMIM: 6088915   UniProtKB: Q8TAX03   

Export aliases for OSR1 gene to outside databases

Previous GC identifers: GC03P037496 GC03P038020 GC03P038167 GC03P038182 GC02M019473 GC02M019308


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: OSR1_HUMAN, Q8TAX0
Function: Transcription factor that plays a role in the regulation of embryonic heart and urogenital development (By
similarity)

Gene Wiki entry for OSR1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_015926.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OSR1 gene promoter:
         Pax-2   Pax-2a   Nkx2-5   CREB   PPAR-gamma1   deltaCREB   USF-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OSR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OSR1


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

Entrez Gene cytogenetic band: 2p24.1   Ensembl cytogenetic band:  2p24.1   HGNC cytogenetic band: 2p24.1

OSR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSR1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M019551:  view genomic region     (about GC identifiers)

Start:
19,551,246 bp from pter      End:
19,558,414 bp from pter
Size:
7,169 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OSR1_HUMAN, Q8TAX0 (See protein sequence)
Recommended Name: Protein odd-skipped-related 1  
Size: 266 amino acids; 29611 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: B3KV97 D6W521

Explore the universe of human proteins at neXtProt for OSR1: NX_Q8TAX0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TAX0

  • OSR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_660303.1  
    ENSEMBL proteins: 
     ENSP00000272223   ENSP00000441801  

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    Uscn Proteins for OSR1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--


    OSR1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    OSR1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q8TAX0

    ProtoNet protein and cluster: Q8TAX0

    UniProtKB/Swiss-Prot: OSR1_HUMAN, Q8TAX0
    Similarity: Belongs to the Odd C2H2-type zinc-finger protein family
    Similarity: Contains 3 C2H2-type zinc fingers


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: OSR1_HUMAN, Q8TAX0
    Function: Transcription factor that plays a role in the regulation of embryonic heart and urogenital development (By
    similarity)

         Genatlas biochemistry entry for OSR1:
    oxidative-stress responsive 1,homolog to the human SOK1 (Ste20/oxidant stress response kinase-1),widely expressed

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0008270zinc ion binding IEA--


    OSR1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for OSR1:
     Actin fiber cells  Decreased substrate adherent c  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-out Osr1tm2.1Jian for OSR1
         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Osr1):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  normal  renal/urinary system  reproductive system 
     respiratory system  skeleton  vision/eye 

    OSR1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OSR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for OSR1 (Q8TAX03 ENSP000002722234) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371733, ENSP000003519054I2D: score=1 STRING: ENSP00000351905
    VHLP403373, ENSP000002564744I2D: score=1 STRING: ENSP00000256474
    EGLN1Q9GZT93, ENSP000003556014I2D: score=1 STRING: ENSP00000355601
    TGFBR1P368973, ENSP000003641334I2D: score=2 STRING: ENSP00000364133
    OXSR1ENSP000003117134STRING: ENSP00000311713
    About this table

    Gene Ontology (GO): 5/49 biological process terms (GO ID links to tree view) (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001655urogenital system development ISS--
    GO:0001656metanephros development ----
    GO:0001657ureteric bud development ISS--
    GO:0001823mesonephros development ISS--


    OSR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OSR1
    Search CenterWatch for drugs/clinical trials and news about OSR1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OSR1 gene: 
    NM_145260.2  

    Unigene Cluster for OSR1:

    Odd-skipped related 1 (Drosophila)
    Hs.123933  [show with all ESTs]
    Unigene Representative Sequence: BC025712
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272223(uc002rdc.3) ENST00000487581 ENST00000498844 ENST00000536433


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    Additional cDNA sequence: 

    AB082568.1 AK074591.1 BC025712.1 

    3 DOTS entries:

    DT.97819389  DT.101969169  DT.121019937 

    24/57 AceView cDNA sequences (see all 57):

    BP377338 AA375484 AI435152 AI391506 AB082568 BP376216 AL554059 BM554048 
    CR602655 AW135691 BI824657 BC025712 CD637282 AA758566 BM543981 BI916098 
    BU150441 BM563981 BI833877 BX458354 BM888154 BQ881411 AW627464 BQ898348 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OSR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCGGACGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    OSR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16
    Tissue Anatomical Compartment CellCategory (developmental path)
    Intermediate MesodermIntermediate MesodermIntermediate Mesoderm CellsMesoderm
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    LimbStylopod Synovial JointInterzone CellsCartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    AdiposeThoracic Perivascular AdiposeAdipose
    AdiposeVisceral White AdiposeAdipose
    BoneAutopod Long BoneBone
    BoneMandibular ProcessBone
    BoneMaxillary ProcessBone
    BoneZeugopod Epiphyseal EndBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Sclerotome cells (Primary Cell)Bone, Cartilage, Somite
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    Intermediate mesoderm-like cells (Generation of interm...)
    Posterior foregut-like cells (A scalable, suspensi...)

    See OSR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OSR1

    SOURCE GeneReport for Unigene cluster: Hs.123933

    UniProtKB/Swiss-Prot: OSR1_HUMAN, Q8TAX0
    Tissue specificity: Expressed in adult colon, small intestine, prostate, testis, and fetal lung

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OSR1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves OSR11 odd-skipped related 1 (Drosophila) 77.95(n)
    89.23(a)
      100316920  NM_001168709.1  NP_001162180.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSR16
    --
    91(a)
    1 ↔ 1
    1(154289908-154298602)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.136072 Xenopus laevis transcribed sequence with moderate similarity more 74.46(n)    BJ060115.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.134992 Transcribed sequence with moderate similarity to protein more 79.78(n)    57092806 
    fruit fly
    (Drosophila melanogaster)
    Insecta fray3 embryonic cuticle biosynthesis (sensu
    Insecta) more
    56(a)   91B5   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y59A8B.233   -- 63(a)   V(17956707-17967938)   --


    ENSEMBL Gene Tree for OSR1 (if available)
    TreeFam Gene Tree for OSR1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OSR1 gene
    OSR22  
    2 SIMAP similar genes for OSR1 using alignment to 1 protein entry:     OSR1_HUMAN:
    OSR2    ZNF24

    OSR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/156 NCBI SNPs in OSR1 are shown (see all 156    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs455587411,2
    C,F,--19550923(-) AGAGTC/TTNNNN 1 -- int17Minor allele frequency- T:0.03NS NA 300
    rs454652971,2
    C,F,--19550981(-) GCTGTG/AAGTTT 1 -- int15Minor allele frequency- A:0.01NS 178
    rs1925318051,2
    --19551022(+) ACCCTA/GTCCCT 1 -- int10--------
    rs455161911,2
    C,F,--19551185(-) TGAGAG/CGACCA 1 -- int15Minor allele frequency- C:0.01NS 176
    rs681651181,2
    C--19551277(+) TAGTT-/AAAAAA 1 -- ut311Minor allele frequency- A:0.00CSA 2
    rs455086011,2
    C,--19551340(-) ATATTG/ACGATT 1 -- ut315Minor allele frequency- A:0.01NS 188
    rs1901525421,2
    --19551614(+) ACTTCC/GTTGCC 1 -- ut310--------
    rs1817362271,2
    C,--19551999(+) AGGGCC/TGCTGG 1 -- ut310--------
    rs344040711,2
    C,F,--19552065(+) GAGCTC/GCTTCA 2 Q E mis14Minor allele frequency- G:0.00NA EU 5879
    rs1866362881,2
    --19552365(+) AGTCTA/GATCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for OSR1 (19551246 - 19558414 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for OSR1
         1 Indel: 58945
    Human Gene Mutation Database (HGMD): OSR1

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OSR1
    DNA2.0 Custom Variant and Variant Library Synthesis for OSR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    OSR1 for disorders           About GeneDecksing

    OMIM gene information: 608891    OMIM disorders: --

    5 diseases for OSR1:    About MalaCards
    cleft lip/palate    cleft lip    pseudohypoaldosteronism    hypoxia
    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: OSR1 (3 documents)

    Export disorders for OSR1 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)
    About This Section

    PubMed articles for OSR1 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with OSR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of OSR1 on human chromosome 2p24. (PubMed id 12119563)1, 2, 3 Katoh M. (2002)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern. (PubMed id 2120051)1, 3 Coulter D.E....Schedl P. (1990)
    6. A variant OSR1 allele which disturbs OSR1 mRNA expres sion in renal progenitor cells is associated with reduction of newborn kidney s ize and function. (PubMed id 21821672)1 Zhang Z....Goodyer P. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Regulation of the NKCC2 ion cotransporter by SPAK-OSR 1-dependent and -independent pathways. (PubMed id 21321328)1 Richardson C....Alessi D.R. (2011)
    9. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1 Flachsbart F....Nebel A. (2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 130497 HGNC: 8111 AceView: ODD Ensembl:ENSG00000143867 euGenes: HUgn130497
    ECgene: OSR1 H-InvDB: OSR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OSR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for OSR1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/osr1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OSR1 gene:
    Search GeneIP for patents involving OSR1

    GeneCards and IP:
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