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OS9 Gene

protein-coding   GIFtS: 57
GCID: GC12P058088

Osteosarcoma Amplified 9, Endoplasmic Reticulum Lectin

  See OS9-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
Osteosarcoma Amplified 9, Endoplasmic Reticulum Lectin1 2     ERLEC22
Endoplasmic Reticulum Lectin 21 2     OS-92
Erlectin 21 2     Osteosarcoma Amplified 9, Endoplasmic Reticulum Associated Protein2
Amplified In Osteosarcoma 92 3     Protein OS-92

External Ids:    HGNC: 169941   Entrez Gene: 109562   Ensembl: ENSG000001355067   OMIM: 6096775   UniProtKB: Q134383   

Export aliases for OS9 gene to outside databases

Previous GC identifers: GC12P056375 GC12P055124


(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 OS9 Gene:
This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible
factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one
of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
(provided by RefSeq, Jul 2008)

GeneCards Summary for OS9 Gene:
OS9 (osteosarcoma amplified 9, endoplasmic reticulum lectin) is a protein-coding gene. Diseases associated with OS9 include osteosarcoma, and hypoxia. GO annotations related to this gene include glycoprotein binding and protease binding. An important paralog of this gene is ERLEC1.

UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438
Function: Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation
(ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins,
retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation.
Possible targets include TRPV4

Gene Wiki entry for OS9 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 at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OS9 gene promoter:
         AML1a   LCR-F1   CBF-C   C/EBPalpha   MZF-1   CBF-A   CBF-B   CP1A   CP1C   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOS9 promoter sequence
   Search Chromatin IP Primers for OS9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OS9


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13

OS9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OS9 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P058088:  view genomic region     (about GC identifiers)

Start:
58,087,738 bp from pter      End:
58,115,340 bp from pter
Size:
27,603 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438 (See protein sequence)
Recommended Name: Protein OS-9 precursor  
Size: 667 amino acids; 75562 Da
Subunit: Probably part of the HRD1 ubiquitin ligase complex composed at least of SYVN1/HRD1 and SEL1L with which
it interacts directly. Through this complex it may interact with ERLEC1 and HSPA5. Interacts with DERL2.
Interacts with HSP90B1 and CREB3
1 PDB 3D structure from and Proteopedia for OS9:
3AIH (3D)    
Secondary accessions: A6NDD1 A6NFR7 A6NLB2 A8K5Q9 B4DE28 B4DPX1 B4E1I6 E7ENT8 E7EW91 F8VUH2
G3XA88 O00579 Q6IBL2 Q8IZ58 Q9BW99
Alternative splicing: 8 isoforms:  Q13438-1   Q13438-2   Q13438-3   Q13438-4   Q13438-5   Q13438-6   Q13438-7   Q13438-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OS9: NX_Q13438

Explore proteomics data for OS9 at MOPED

Post-translational modifications: 

  • Intramolecular disulfide bonds1
  • Isoform 1 and isoform 2 are N-glycosylated1
  • Ubiquitination2 at Lys563, Lys619
  • Glycosylation2 at Asn177, Ser529, Thr533
  • Modification sites at PhosphoSitePlus

  • See OS9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001017956.1  NP_001017957.1  NP_001017958.1  NP_001248349.1  NP_001248350.1  NP_001248351.1  NP_001248352.1  NP_006803.1  

    ENSEMBL proteins: 
     ENSP00000450010   ENSP00000318165   ENSP00000448478   ENSP00000447031   ENSP00000447451  
     ENSP00000449789   ENSP00000407360   ENSP00000373798   ENSP00000413112   ENSP00000447866  
     ENSP00000257966   ENSP00000389632   ENSP00000447719   ENSP00000373794   ENSP00000447163  

    OS9 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for OS9
    OriGene Protein Over-expression Lysate for OS9
    OriGene MassSpec for OS9
    OriGene Custom Protein Services for OS9
    GenScript Custom Purified and Recombinant Proteins Services for OS9
    Novus Biologicals OS9 Proteins
    Novus Biologicals OS9 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OS9

     
    Search eBioscience for Proteins for OS9 

    OS9 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for OS9 
    OriGene Antibodies for OS9
    OriGene Custom Antibody Services for OS9
    Novus Biologicals OS9 Antibodies
    Search for Antibodies for OS9 at Abcam
    Cloud-Clone Corp. Antibodies for OS9
    ThermoFisher Antibody for OS9
    LSBio Antibodies in human, mouse, rat for OS9

    OS9 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for OS9
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for OS9
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for OS9
    Cloud-Clone Corp. CLIAs for OS9
    Search eBioscience for ELISAs for OS9 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR009011 Man6P_isomerase_rcpt-bd_dom
     IPR012913 PRKCSH

    Graphical View of Domain Structure for InterPro Entry Q13438

    ProtoNet protein and cluster: Q13438

    1 Blocks protein domain: IPB012913 Glucosidase II beta subunit-like

    UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438
    Similarity: Belongs to the OS-9 family
    Similarity: Contains 1 PRKCSH domain


    Find genes that share domains with OS9           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OS9_HUMAN, Q13438
    Function: Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation
    (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins,
    retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation.
    Possible targets include TRPV4
    Induction: Up-regulated in response to endoplasmic reticulum stress (at protein level)

         Genatlas biochemistry entry for OS9:
    homogeneously staining-region encoded sequence OS9,from an osteosarcoma-cell line,with three isoforms,coamplified
    with CDK4,PRIM1,SAS in osteosarcoma

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IDA18264092
    GO:0002020protease binding IEA--
    GO:0005515protein binding IPI15721254
         
    Find genes that share ontologies with OS9           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for OS9:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Os9):
     mortality/aging 

    Find genes that share phenotypes with OS9           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OS9
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for OS9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OS9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OS9

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat OS9 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate OS9:
    hsa-miR-145 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidOS9 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OS9
    Predesigned siRNA for gene silencing in human, mouse, rat OS9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OS9

    Clone
    Products:
         
    OriGene clones in human, mouse for OS9 (see all 24)
    OriGene ORF clones in mouse, rat for OS9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): OS9 (NM_006812)
    Sino Biological Human cDNA Clone for OS9
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OS9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OS9

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for OS9
    Browse ESI BIO Cell Lines and PureStem Progenitors for OS9 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OS9


    (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
    OS9_HUMAN, Q13438: Endoplasmic reticulum lumen
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000836Hrd1p ubiquitin ligase complex NAS18502753
    GO:0005783endoplasmic reticulum ----
    GO:0005788endoplasmic reticulum lumen IDA18264092

    Find genes that share ontologies with OS9           About GenesLikeMe


    (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 OS9 About    
    See pathways by source

    SuperPathContained pathways About
    1Translational Control
    Translational Control
    2Protein Stability
    Protein Stability
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    4Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha


    Find genes that share SuperPaths with OS9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for OS9
        Translational Control
    Protein Stability

    1 BioSystems Pathway for OS9
        Hypoxic and oxygen homeostasis regulation of HIF-1-alpha



    1 Kegg Pathway  (Kegg details for OS9):
        Protein processing in endoplasmic reticulum

        Pathway & Disease-focused RT2 Profiler PCR Arrays including OS9: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for OS9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for OS9 (Q134381, 2, 3 ENSP000003181654) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3MINT-60916 I2D: score=3 
    ZNF512BQ96KM62, 3MINT-60815 I2D: score=2 
    EGLN1Q9GZT91, 3, ENSP000003556014EBI-725454,EBI-1174818 I2D: score=4 STRING: ENSP00000355601
    HIF1AQ166651, 3, ENSP000003380184EBI-725454,EBI-447269 I2D: score=5 STRING: ENSP00000338018
    EGLN3Q9H6Z93, ENSP000002504574I2D: score=4 STRING: ENSP00000250457
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting IEA--
    GO:0006621protein retention in ER lumen IDA18417469
    GO:0016567protein ubiquitination IMP19084021
    GO:0030433ER-associated ubiquitin-dependent protein catabolic process IMP18264092
    GO:0034976response to endoplasmic reticulum stress IDA19084021

    Find genes that share ontologies with OS9           About GenesLikeMe



    (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 OS9



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for OS9 gene (8 alternative transcripts): 
    NM_001017956.2  NM_001017957.2  NM_001017958.2  NM_001261420.1  NM_001261421.1  NM_001261422.1  NM_001261423.1  NM_006812.3  

    Unigene Cluster for OS9:

    Osteosarcoma amplified 9, endoplasmic reticulum lectin
    Hs.527861  [show with all ESTs]
    Unigene Representative Sequence: NM_006812
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000552285 ENST00000549897 ENST00000315970(uc001spj.3 uc010srx.2 uc001spk.3 uc001spl.3 uc001spm.3 uc001spn.3 uc010sry.2 uc010srz.2)
    ENST00000550848 ENST00000547079 ENST00000552787 ENST00000551285 ENST00000439210
    ENST00000389146 ENST00000413095 ENST00000551035 ENST00000257966 ENST00000435406
    ENST00000550372 ENST00000553208 ENST00000389142 ENST00000550793 ENST00000552423

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat OS9 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate OS9:
    hsa-miR-145 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidOS9 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for OS9
    Predesigned siRNA for gene silencing in human, mouse, rat OS9
    Clone
    Products:
         
    OriGene clones in human, mouse for OS9 (see all 24)
    OriGene ORF clones in mouse, rat for OS9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): OS9 (NM_006812)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OS9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OS9
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for OS9
    OriGene qSTAR qPCR primer pairs in human, mouse for OS9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OS9
      QuantiTect SYBR Green Assays in human, mouse, rat OS9
      QuantiFast Probe-based Assays in human, mouse, rat OS9

    Additional mRNA sequence: 

    AB002806.1 AK130733.1 AK291374.1 AK293435.1 AK296770.1 AK298532.1 AK303858.1 AK304533.1 
    BC000532.2 BC006506.2 BC007254.1 BC023513.2 CR456791.1 EF036505.1 U09408.1 U41635.1 

    Selected DOTS entries (see all 46):

    DT.455567  DT.100682332  DT.100682338  DT.100894740  DT.100846873  DT.95165428  DT.86846445  DT.100875178 
    DT.121176688  DT.121176686  DT.100682333  DT.100039316  DT.101965445  DT.121176647  DT.100682341  DT.95165476 
    DT.100682353  DT.121176622  DT.100682335  DT.121176593  DT.100682357  DT.121176695  DT.40313741  DT.95165517 

    Selected AceView cDNA sequences (see all 962):

    BM833255 BQ182213 BM825334 BM983575 AI084118 CA487730 CA437989 AI630750 
    AA298586 BQ898696 BM721811 AI361373 CF132317 BU859190 CA307251 CR594965 
    BC000532 AL560474 BC023513 AU142008 AI688969 F17590 AW409825 BP360627 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OS9 (see all 26)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10a · 10b ·
    SP1:                          -                                         -                             -     -                       -                           
    SP2:                                                                    -                             -     -                       -                           
    SP3:                          -                                         -                             -     -                       -                           
    SP4:                                                                                                                                -                           
    SP5:                          -           -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -         

    ExUns: 10c ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c
    SP1:        -                                         -                                                                                             
    SP2:        -                                                                                                                                       
    SP3:        -                                                                                                                                       
    SP4:        -                                         -                                                                                             
    SP5:        -                                                                                                                                       


    ECgene alternative splicing isoforms for OS9

    (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)
    About This Section

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    OS9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTTGAACA
    OS9 Expression
    About this image


    OS9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Metanephros
    OS9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OS9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.527861

    UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438
    Tissue specificity: Ubiquitously expressed. Found as well in all tumor cell lines analyzed, amplified in sarcomas.
    Highly expressed in osteosarcoma SJSA-1 and rhabdomyosarcoma Rh30 cell lines. Isoform 2 is the major isoform
    detected in all cell types examined

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for OS9 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Os91 , 5 amplified in osteosarcoma1, 5 83.28(n)1
    81.63(a)1
      10 (74.50 cM)5
    2164401  NM_001171026.11  NP_001164497.11 
     1270942595 
    lizard
    (Anolis carolinensis)
    Reptilia OS96
    osteosarcoma amplified 9, endoplasmic reticulum le...
    49(a)
    1 ↔ 1
    GL343847.1(116414-158913)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.192232 Xenopus laevis transcribed sequence with weak similarity more 73.54(n)    BJ614758.1 
    zebrafish
    (Danio rerio)
    Actinopterygii os91 amplified in osteosarcoma 55.44(n)
    49.08(a)
      553455  NM_001075108.1  NP_001068576.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F48E8.46
    Protein F48E8.4 (F48E8.4) mRNA, complete cds
    12(a)
    1 ↔ 1
    III(5453606-5459668) WBGene00018611


    ENSEMBL Gene Tree for OS9 (if available)
    TreeFam Gene Tree for OS9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OS9 gene
    ERLEC12  
    1 SIMAP similar gene for OS9 using alignment to 8 protein entries:     OS9_HUMAN (see all proteins):
    ERLEC1

    Find genes that share paralogs with OS9           About GenesLikeMe



    (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 OS9 (see all 687)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79783941,2
    C--55128547(+) aaacaC/Aacaca 8 -- int11Minor allele frequency- A:0.50WA 2
    rs1997328951,2
    --55137498(+) AAAAA-/AAAAAG
            
    TTTAG
    8 -- int10--------
    rs786793711,2
    C--55143120(+) TAAAT-/CTTTAA 8 -- int10--------
    rs801726931,2
    C,F--57920252(+) ATCCTA/CATGTT 8 -- us2k11Minor allele frequency- C:0.06WA 118
    rs770382491,2
    C,F--57920254(+) CCTAAT/CGTTAT 8 -- us2k11Minor allele frequency- C:0.06WA 118
    rs26194421,2
    C,H--57920324(+) ttttgT/Actgta 8 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs1403431251,2
    C--57920471(+) GAGAC-/TGTTCTT 8 -- us2k10--------
    rs1896894491,2
    --57920511(+) TTTTTA/GATGAT 8 -- us2k10--------
    rs1823101101,2
    --57920527(+) CTGATC/TCTCTG 8 -- us2k10--------
    rs1878742491,2
    --57920611(+) TTTCTC/GCTAAA 8 -- us2k10--------

    HapMap Linkage Disequilibrium report for OS9 (58087738 - 58115340 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for OS9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899121CNV Loss21882294
    nsv470296CNV Loss18288195
    nsv508676CNV Loss20534489

    Human Gene Mutation Database (HGMD): OS9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OS9
    DNA2.0 Custom Variant and Variant Library Synthesis for OS9

    (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.)
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    OMIM gene information: 609677    OMIM disorders: --

    2 diseases for OS9:    
    About MalaCards
    osteosarcoma    hypoxia


    Find genes that share disorders with OS9           About GenesLikeMe

    Genetic Association Database (GAD): OS9
    Human Genome Epidemiology (HuGE) Navigator: OS9 (1 document)

    Export disorders for OS9 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 OS9 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with OS9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human OS-9, a lectin required for glycoprotein endoplasmic reticulum- associated degradation, recognizes mannose-trimmed N-glycans. (PubMed id 19346256)1, 2, 3 Hosokawa N.... Nagata K. (J. Biol. Chem. 2009)
    2. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PubMed id 18264092)1, 2, 3 Christianson J.C.... Kopito R.R. (Nat. Cell Biol. 2008)
    3. Genomic organization of the OS-9 gene amplified in human sarcomas. (PubMed id 9498564)1, 2, 3 Kimura Y....Yamada M. (J. Biochem. 1997)
    4. Complete sequence analysis of a gene (OS-9) ubiquitously expressed in human tissues and amplified in sarcomas. (PubMed id 8634085)1, 2, 3 Su Y.A.... Meltzer P.S. (Mol. Carcinog. 1996)
    5. DC-STAMP interacts with ER-resident transcription factor LUMAN which becomes activated during DC maturation. (PubMed id 20546900)1, 2 Eleveld-Trancikova D.... Adema G.J. (Mol. Immunol. 2010)
    6. Genome-wide searching of rare genetic variants in WTCCC data. (PubMed id 20549515)1, 4 Feng T. and Zhu X. (Hum. Genet. 2010)
    7. Structural basis for oligosaccharide recognition of misfolded glycoproteins by OS-9 in ER-associated degradation. (PubMed id 21172656)1, 2 Satoh T.... Yamaguchi Y. (Mol. Cell 2010)
    8. Mammalian OS-9 is upregulated in response to endoplasmic reticulum stress and facilitates ubiquitination of misfolded glycoproteins. (PubMed id 19084021)1, 2 Alcock F. and Swanton E. (J. Mol. Biol. 2009)
    9. Human XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP. (PubMed id 18502753)1, 2 Hosokawa N.... Nagata K. (J. Biol. Chem. 2008)
    10. A dual task for the Xbp1-responsive OS-9 variants in the mammalian endoplasmic reticulum: inhibiting secretion of misfolded protein conformers and enhancing their disposal. (PubMed id 18417469)1, 2 Bernasconi R.... Molinari M. (J. Biol. Chem. 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: 10956 HGNC: 16994 AceView: OS-9 Ensembl:ENSG00000135506 euGenes: HUgn10956
    ECgene: OS9 Kegg: 10956 H-InvDB: OS9

    (According to HUGE)
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      --

    (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 OS9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OS9 gene:
    Search GeneIP for patents involving OS9

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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