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C6orf165 Gene

protein-coding   GIFtS: 40
GCID: GC06P088117

Chromosome 6 Open Reading Frame 165

  See related disease
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 6 Open Reading Frame 1651 2
dJ382I10.12
UPF0704 Protein C6orf1652

External Ids:    HGNC: 214051   Entrez Gene: 1543132   Ensembl: ENSG000002132047   UniProtKB: Q8IYR03   

Export aliases for C6orf165 gene to outside databases

Previous GC identifers: GC06P088067 GC06P088113 GC06P088174 GC06P085333


(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 C6orf165 Gene:
C6orf165 (chromosome 6 open reading frame 165) is a protein-coding gene. Diseases associated with C6orf165 include malaria. An important paralog of this gene is ENSG00000272514.


(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_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the C6orf165 gene promoter:
         TBP   Nkx6-1   POU2F1   POU3F1   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C6orf165

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C6orf165


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

Entrez Gene cytogenetic band: 6q15   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q15

C6orf165 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf165 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P088117:  view genomic region     (about GC identifiers)

Start:
88,117,690 bp from pter      End:
88,221,352 bp from pter
Size:
103,663 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CF165_HUMAN, Q8IYR0 (See protein sequence)
Recommended Name: UPF0704 protein C6orf165  
Size: 622 amino acids; 71193 Da
Sequence caution: Sequence=BAC04234.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: A8K969 E1P507 Q8N9U4

Explore the universe of human proteins at neXtProt for C6orf165: NX_Q8IYR0

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_001026913.1  
    ENSEMBL proteins: 
     ENSP00000426769  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR021897 DUF3508

    Graphical View of Domain Structure for InterPro Entry Q8IYR0

    ProtoNet protein and cluster: Q8IYR0

    UniProtKB/Swiss-Prot: CF165_HUMAN, Q8IYR0
    Similarity: Belongs to the UPF0704 family


    C6orf165 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C6orf165
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    SwitchGear 3'UTR luciferase reporter plasmidC6orf165 3' UTR sequence
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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
    cytosol2
    cytoskeleton1
    mitochondrion1

    (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 C6orf165
    Interactions:

        Search GeneGlobe Interaction Network for C6orf165

    Selected Interacting proteins for C6orf165 (Q8IYR02, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997502, 3MINT-67627 I2D: score=4 
    RNF138Q8WVD32, 3MINT-67412 I2D: score=4 
    UBXN11Q5T1243I2D: score=4 
    C1orf94Q6P1W53I2D: score=1 
    SOX30O949933I2D: score=1 
    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 C6orf165 (CF165)



    (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 C6orf165 gene (2 alternative transcripts): 
    NM_178823.2  NM_001031743.2  

    Unigene Cluster for C6orf165:

    Chromosome 6 open reading frame 165
    Hs.82921  [show with all ESTs]
    Unigene Representative Sequence: BC045171
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507897(uc010kbv.2) ENST00000506888 ENST00000513191
    miRNA
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    hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidC6orf165 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C6orf165
      QuantiFast Probe-based Assays in human, mouse, rat C6orf165

    Additional mRNA sequence: 

    AK098840.1 BC035083.2 BC045171.2 

    6 DOTS entries:

    DT.95292157  DT.95319260  DT.308568  DT.91788132  DT.99954891  DT.97787409 

    Selected AceView cDNA sequences (see all 211):

    AI932726 AW467412 CR618258 AK093830 AX748329 AA290699 CA313127 AA251703 
    BG778614 BI834030 BX951396 CD558020 BQ024221 CR626359 CD678741 AA460853 
    AW134591 BC045171 BM728252 AW205658 AW006875 AA781229 BM756875 NM_178823 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    C6orf165 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGAAGACA
    C6orf165 Expression
    About this image

    C6orf165 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.82921
        Custom PCR Arrays for C6orf165
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf165

    (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 C6orf165 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700003M02Rik1 , 5 RIKEN cDNA 1700003M02 gene1, 5 81.08(n)1
    79.88(a)1
      4 (16.86 cM)5
    693291  NM_027041.41  NP_081317.41 
     346885595 
    chicken
    (Gallus gallus)
    Aves C6ORF1651 chromosome 3 open reading frame, human C6orf165 65.8(n)
    58.54(a)
      421824  XM_419848.4  XP_419848.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    68(a)
    1 → many
    1(176379652-176401803)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c6orf1651 chromosome 6 open reading frame 165 66.72(n)
    64.72(a)
      779532  XM_002938297.2  XP_002938343.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.169862 Danio rerio clone RK074A4H05 chromosome 6 open reading more 70.64(n)    AY398318.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG134366
    --
    20(a)
    1 → many
    2R(16523897-16525928)


    ENSEMBL Gene Tree for C6orf165 (if available)
    TreeFam Gene Tree for C6orf165 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C6orf165 gene
    ENSG000002725142  

    C6orf165 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C6orf165 (see all 1137)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs77491621,2
    C,F,A,H--85331973(+) aaaaaC/Gccaaa 1 -- us2k114Minor allele frequency- G:0.27NS EA NA WA CSA 727
    rs77732621,2
    C,F,A,H--85331982(+) aataaT/Cagtag 1 -- us2k113Minor allele frequency- C:0.25NS EA NA WA CSA 645
    rs1509007351,2
    --85332029(+) GTCTGG/TAGATA 1 -- us2k10--------
    rs345925261,2
    C,F--85332185(+) TTTCAA/CGTAGA 1 -- us2k12Minor allele frequency- C:0.05WA NA 122
    rs1894736431,2
    --85332227(+) AAGTGA/CTTTCC 1 -- us2k10--------
    rs77738041,2
    C,F,A,H--85332299(+) CTCACT/AGAGAA 1 -- us2k111Minor allele frequency- A:0.29NS EA NA WA CSA 663
    rs112873861,2
    C--85332426(+) CATAC-/TTCAGG 1 -- us2k10--------
    rs126612451,2
    C,F,A,H--85332480(+) AATATG/TATGGT 1 -- us2k112Minor allele frequency- T:0.27NS EA NA WA CSA 717
    rs1820891191,2
    --85332638(+) TCTCAC/TCGTCC 1 -- us2k10--------
    rs1860968841,2
    --85332686(+) TATATC/TTAAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C6orf165 (88117690 - 88221352 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for C6orf165:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732390CNV Deletion23290073
    esv1288596CNV Deletion17803354
    esv2732388CNV Deletion23290073
    esv2732389CNV Deletion23290073
    esv1979464CNV Deletion18987734
    esv274347CNV Insertion20981092
    esv994317CNV Insertion20482838
    nsv830722CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    (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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    1 disease for C6orf165:    About MalaCards
    malaria


    C6orf165 for disorders           About GeneDecksing


    Export disorders for C6orf165 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 C6orf165 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C6orf165)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network. (PubMed id 20308539)1 Lunardi A....Collavin L. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 154313 HGNC: 21405 AceView: SLC35A1andC6orf165 Ensembl:ENSG00000213204 euGenes: HUgn154313
    ECgene: C6orf165 H-InvDB: C6orf165

    (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 C6orf165 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 C6orf165 gene:
    Search GeneIP for patents involving C6orf165

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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