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

C17orf80 Gene

protein-coding   GIFtS: 40
GCID: GC17P071228

chromosome 17 open reading frame 80

 Explore 4 diseases affiliated with
C17orf80 via our new
 Human Malady Compendium 
Biological research products
for C17orf80
    

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

Aliases
Chromosome 17 Open Reading Frame 801 2     FLJ207211
HLC-81 2 3     Lung Cancer-Related Protein 82
MIG31 2     Migration-Inducing Protein 32
SPEP11 2     Sperm-Expressed Protein 12
Cell Migration-Inducing Gene 3 Protein2 3     Uncharacterized Protein C17orf802
Human Lung Cancer Oncogene 8 Protein2 3     

External Ids:    HGNC: 296011   Entrez Gene: 550282   Ensembl: ENSG000001412197   UniProtKB: Q9BSJ53   

Export aliases for C17orf80 gene to outside databases

Previous GC identifers: GC17P068741 GC17P066637


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

  --

(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C17orf80 gene promoter:
         AML1a   MEF-2   STAT1beta   MyoD   Nkx2-5   C/EBPalpha   GATA-2   MEF-2A   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC17orf80 promoter sequence
   Search SABiosciences Chromatin IP Primers for C17orf80

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf80


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

C17orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf80 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P071228:  view genomic region     (about GC identifiers)

Start:
71,228,372 bp from pter      End:
71,245,098 bp from pter
Size:
16,727 bases      Orientation:
plus 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: CQ080_HUMAN, Q9BSJ5 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf80  
Size: 609 amino acids; 67315 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=AAP72185.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91344.1; Type=Frameshift; Positions=121; Sequence=BAB15680.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: A8K9X3 Q5JB45 Q6YAU3 Q9H0L9 Q9H5E6 Q9NWN5
Alternative splicing: 3 isoforms:  Q9BSJ5-1   Q9BSJ5-2   Q9BSJ5-3   

Explore the universe of human proteins at neXtProt for C17orf80: NX_Q9BSJ5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BSJ5

  • C17orf80 Protein expression data from MOPED and PaxDb:    About this image 
    C17orf80 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001094091.1  NP_001094092.1  NP_060411.2  

    ENSEMBL proteins: 
     ENSP00000255557   ENSP00000464132   ENSP00000462818   ENSP00000268942   ENSP00000396970  
     ENSP00000463019   ENSP00000440551   ENSP00000463718   ENSP00000351937  

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    Uscn Proteins for C17orf80

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    C17orf80 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

    ProtoNet protein and cluster: Q9BSJ5


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

    Phenotypes:
         1 GenomeRNAi human phenotype for C17orf80:
     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C17orf80 

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    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C17orf80

    (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 C17orf80
    Search CenterWatch for drugs/clinical trials and news about C17orf80 / CQ080 

    (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,
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    About This Section

    REFSEQ mRNAs for C17orf80 gene (3 alternative transcripts): 
    NM_001100621.1  NM_001100622.1  NM_017941.4  

    Unigene Cluster for C17orf80:

    Chromosome 17 open reading frame 80
    Hs.12929  [show with all ESTs]
    Unigene Representative Sequence: NM_017941
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255557(uc010wqu.1) ENST00000577615 ENST00000585109 ENST00000268942
    ENST00000426147(uc002jjk.1) ENST00000582391 ENST00000535032 ENST00000582793
    ENST00000359042(uc010dfj.3 uc002jjm.4 uc002jjl.4)

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    hsa-miR-19b hsa-miR-590-3p hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidC17orf80 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Additional cDNA sequence: 

    AK000728.1 AK027166.1 AK292838.1 AK301905.1 AL136740.1 AY163812.1 AY239293.1 BC005005.2 

    11 DOTS entries:

    DT.100751259  DT.95269182  DT.100754745  DT.95287897  DT.102825595  DT.120979055  DT.120979096  DT.423629 
    DT.443604  DT.95226482  DT.95269183 

    24/143 AceView cDNA sequences (see all 143):

    CB134766 F09792 BE328463 AW473463 AA722641 BQ018309 CR612666 BU194891 
    AW576319 AI910475 H84336 NM_017941 AA295241 BM475559 BU736238 AA908931 
    BC005005 AI277508 AA400677 BU788930 AA308552 BE880514 AA334979 BX348208 

    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

    C17orf80 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGAATACC
    C17orf80 Expression
    About this image
    See C17orf80 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C17orf80

    SOURCE GeneReport for Unigene cluster: Hs.12929
        SABiosciences Custom PCR Arrays for C17orf80

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf80

    (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 human and mouse.

    Orthologs for C17orf80 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D11Wsu47e1 , 5 DNA segment, Chr 11, Wayne State University 47, expressed1, 5 65.94(n)1
    50.36(a)1
      11 (79.15 cM)5
    2768521  NM_177777.51  NP_808445.21 
     1136844125 


    ENSEMBL Gene Tree for C17orf80 (if available)
    TreeFam Gene Tree for C17orf80 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C17orf80 gene

    C17orf80 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C17orf80
    PGOHUM00000240409


    (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

    10/479 NCBI SNPs in C17orf80 are shown (see all 479    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs672834511,2
    C--66643586(+) GGTGA-/TTGTAAAGTA
    GCATACCTGTCGT
    TTGTA
    1 -- int10--------
    rs1852377601,2
    --71226802(+) AAGTGC/TTGGGA 5 -- int1 us2k10--------
    rs1439018871,2
    --71226847(+) CCACCA/GTCTTA 5 -- int1 us2k10--------
    rs1468160181,2
    --71226934(+) AACTTC/GTTTAA 5 -- int1 us2k10--------
    rs595917141,2
    C--71227133(+) GGTCAG/TATTCA 5 -- us2k1 int12Minor allele frequency- T:0.03WA 120
    rs1392063701,2
    --71227176(+) GGCATA/GTCTGT 5 -- int1 us2k10--------
    rs1494328981,2
    --71227215(+) CACTCC/TTCTTT 5 -- int1 us2k10--------
    rs37643601,2
    H--71227296(+) GGGAAC/TCCTAG 5 -- int1 us2k14Minor allele frequency- T:0.00NS EA 418
    rs1448137701,2
    --71227302(+) CCTAGA/GTTTTC 5 -- int1 us2k10--------
    rs1891175401,2
    --71227372(+) TTTCAA/GAGAAG 5 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for C17orf80 (71228372 - 71245098 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C17orf80: --

    SABiosciences Cancer Mutation PCR Assays
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    (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

    C17orf80 for disorders           About GeneDecksing

    4 diseases for C17orf80:    About MalaCards
    lung cancer    postpoliomyelitis syndrome    poliomyelitis    parkinson's disease

    1 disease from the University of Copenhagen DISEASES database for C17orf80:
    Poliomyelitis

    Export disorders for C17orf80 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 C17orf80 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with C17orf80)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    3. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    4. Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)1 Kim J.M....Kim N.S. (2006)
    5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    10. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55028 HGNC: 29601 AceView: HLC-8 Ensembl:ENSG00000141219 euGenes: HUgn55028
    ECgene: C17orf80 H-InvDB: C17orf80

    (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 C17orf80 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C17orf80 gene:
    Search GeneIP for patents involving C17orf80

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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