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C17orf85 Gene

protein-coding   GIFtS: 46
GCID: GC17M003731

Chromosome 17 Open Reading Frame 85

  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
Chromosome 17 Open Reading Frame 851 2     HSA2778412
ELG Protein1     Uncharacterized Protein C17orf852
CTD-3195I5.12     Protein ELG3
ELG2     

External Ids:    HGNC: 246121   Entrez Gene: 554212   Ensembl: ENSG000000743567   UniProtKB: Q53F193   

Export aliases for C17orf85 gene to outside databases

Previous GC identifers: GC17M003662 GC17M003604 GC17M003715 GC17M003720 GC17M003724 GC17M003727


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C17orf85 Gene:
C17orf85 (chromosome 17 open reading frame 85) is a protein-coding gene. Diseases associated with C17orf85 include vertebral artery insufficiency, and aortic aneurysm. GO annotations related to this gene include nucleotide binding.


(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_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C17orf85 gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT5A   STAT1alpha   AREB6   STAT2   STAT3   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC17orf85 promoter sequence
   Search Chromatin IP Primers for C17orf85

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf85


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

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

C17orf85 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf85 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M003731:  view genomic region     (about GC identifiers)

Start:
3,714,460 bp from pter      End:
3,749,545 bp from pter
Size:
35,086 bases      Orientation:
minus 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: CQ085_HUMAN, Q53F19 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf85  
Size: 620 amino acids; 70593 Da
Sequence caution: Sequence=BAD97190.1; Type=Erroneous initiation;
Secondary accessions: B3KWG7 Q7L406 Q96FK1 Q9NXZ4
Alternative splicing: 2 isoforms:  Q53F19-1   Q53F19-2   

Explore the universe of human proteins at neXtProt for C17orf85: NX_Q53F19

Explore proteomics data for C17orf85 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C17orf85 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001107590.1  
    ENSEMBL proteins: 
     ENSP00000467742   ENSP00000373657   ENSP00000466165   ENSP00000158149  

    C17orf85 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for C17orf85


    (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:
     IPR019416 DUF2414
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q53F19

    ProtoNet protein and cluster: Q53F19


    C17orf85 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    C17orf85 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C17orf85:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C17orf85
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C17orf85

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C17orf85 (see all 49):
    hsa-miR-3685 hsa-miR-642a hsa-miR-128 hsa-miR-938 hsa-miR-578 hsa-miR-3653 hsa-miR-374c hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidC17orf85 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat C17orf85

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): C17orf85 (NM_001114118)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C17orf85
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C17orf85

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    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    endoplasmic reticulum1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C17orf85
    Interactions:

        Search GeneGlobe Interaction Network for C17orf85

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

    Selected Interacting proteins for C17orf85 (Q53F192, 3 ENSP000003736574) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNIP1Q8TAD82, ENSP000002962154MINT-8337321 STRING: ENSP00000296215
    HNRNPH3P319422, ENSP000002658664MINT-8337926 STRING: ENSP00000265866
    NCBP1Q091612, ENSP000003642894MINT-8335968 STRING: ENSP00000364289
    ULK2Q8IYT83I2D: score=1 
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    (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 C17orf85 (CQ085)



    (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 C17orf85 gene (2 alternative transcripts): 
    NM_018553.3  NM_001114118.2  

    Unigene Cluster for C17orf85:

    Chromosome 17 open reading frame 85
    Hs.120963  [show with all ESTs]
    Unigene Representative Sequence: NM_001114118
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000574911 ENST00000575815(uc002fwr.2) ENST00000389005 ENST00000576523
    ENST00000574379 ENST00000577169 ENST00000158149(uc002fwq.2 uc010ckl.1)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C17orf85 (see all 49):
    hsa-miR-3685 hsa-miR-642a hsa-miR-128 hsa-miR-938 hsa-miR-578 hsa-miR-3653 hsa-miR-374c hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidC17orf85 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C17orf85
    Predesigned siRNA for gene silencing in human, mouse, rat C17orf85
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): C17orf85 (NM_001114118)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C17orf85
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C17orf85
    Primer
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    OriGene qPCR primer pairs and template standards for C17orf85
    OriGene qSTAR qPCR primer pairs in human, mouse for C17orf85
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C17orf85
      QuantiTect SYBR Green Assays in human, mouse, rat C17orf85
      QuantiFast Probe-based Assays in human, mouse, rat C17orf85

    Additional mRNA sequence: 

    AJ277841.1 AK056724.1 AK223470.1 BC010707.1 BC011733.2 

    13 DOTS entries:

    DT.86854135  DT.409549  DT.100723236  DT.91700920  DT.121004291  DT.100653334  DT.101967753  DT.40250614 
    DT.91698135  DT.86839741  DT.91637696  DT.86859574  DT.91933195 

    Selected AceView cDNA sequences (see all 114):

    CF529779 F01447 AI189982 BI041684 BE884539 CD652060 AW340034 AA884163 
    AI933559 CF227216 AA693932 BE220254 AA706815 AI131055 BF512666 CF227218 
    BC010707 AK125048 BQ011979 CF227220 BI062143 AI804370 BM681344 AA887937 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C17orf85    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:              -                                                                           
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for C17orf85

    (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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    C17orf85 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCGTTAGAG
    C17orf85 Expression
    About this image

    C17orf85 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C17orf85 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.120963
        Custom PCR Arrays for C17orf85
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf85

    (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 chordates.

    Orthologs for C17orf85 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1200014J11Rik1 , 5 RIKEN cDNA 1200014J11 gene1, 5 89.63(n)1
    94.84(a)1
      11 (45.16 cM)5
    668741  NM_025818.31  NP_080094.31 
     730477835 
    chicken
    (Gallus gallus)
    Aves C19H17ORF851 chromosome 19 open reading frame, human C17orf85 76.73(n)
    82.94(a)
      417552  NM_001012805.1  NP_001012823.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.334632 Xenopus laevis transcribed sequence with moderate similarity more 78.16(n)    BJ038719.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558702 hypothetical protein MGC55870 75.46(n)   393112  BC044520.1 


    ENSEMBL Gene Tree for C17orf85 (if available)
    TreeFam Gene Tree for C17orf85 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 C17orf85 (see all 960)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1837626901,2
    C--3709551(+) TATTTC/TTAGTA 1 -- int10--------
    rs1476489601,2
    --3709591(+) TGCTCC/TTGAAC 1 -- int10--------
    rs616868131,2
    C,F--3709669(+) AGCCCG/AGCCTG 1 -- int12Minor allele frequency- A:0.16WA 120
    rs746379691,2
    C,F--3709819(+) TCAAAT/CGAACA 1 -- int11Minor allele frequency- C:0.10EA 120
    rs80716901,2
    C,F,A,H--3709882(+) CTCTCA/TAGTTT 1 -- int133Minor allele frequency- T:0.43EA NA NS WA CSA 3408
    rs169534791,2
    C,F,H--3709915(+) CACTCG/AGATGC 1 -- int114Minor allele frequency- A:0.03NA NS EA WA 1908
    rs1123722661,2
    F--3710101(+) TGTGGG/ATCTGG 1 -- ut312Minor allele frequency- A:0.50CSA 4
    rs10474631,2
    C,F,A,H--3710124(-) CCAGGA/CAGATT 1 -- ut3121Minor allele frequency- C:0.21MN NA NS EA WA CSA 2219
    rs1422712991,2
    C--3710254(+) TGTATC/TGAACT 1 -- ut310--------
    rs1458113111,2
    --3710290(+) GTGAAG/TCCATG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C17orf85 (3714460 - 3749545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C17orf85 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658361CNV Deletion23128226
    esv2715532CNV Deletion23290073
    esv2672645CNV Deletion23128226
    nsv833343CNV Loss17160897
    nsv907571CNV Loss21882294
    dgv3043n71CNV Loss21882294
    nsv512472CNV Loss21212237
    dgv3044n71CNV Loss21882294
    nsv907572CNV Loss21882294
    nsv907570CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C17orf85
    DNA2.0 Custom Variant and Variant Library Synthesis for C17orf85

    (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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    3 diseases for C17orf85:    About MalaCards
    vertebral artery insufficiency    aortic aneurysm    abdominal aortic aneurysm

    2 diseases from the University of Copenhagen DISEASES database for C17orf85:
    Vertebral artery insufficiency     Abdominal aortic aneurysm

    C17orf85 for disorders           About GeneDecksing


    Export disorders for C17orf85 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 C17orf85 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with C17orf85)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Studies on transcriptional regulation of the mucosal T-cell integrin alphaEbeta7 (CD103). (PubMed id 11412301)1, 3 Robinson P.W....Kilshaw P.J. (Immunology 2001)
    3. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    4. Dynamic protein-protein interaction wiring of the human spliceosome. (PubMed id 22365833)1 Hegele A....Stelzl U. (Mol. Cell 2012)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    6. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    7. Comparative proteomic analysis identifies a role for SUMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (Sci Signal 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    10. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (Sci Signal 2009)

    (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: 55421 HGNC: 24612 AceView: HSA277841 Ensembl:ENSG00000074356 euGenes: HUgn55421
    ECgene: C17orf85 H-InvDB: C17orf85

    (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 C17orf85 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 C17orf85 gene:
    Search GeneIP for patents involving C17orf85

    GeneCards and IP:
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