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C11orf68 Gene

protein-coding   GIFtS: 49
GCID: GC11M065684

Chromosome 11 Open Reading Frame 68

  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 11 Open Reading Frame 681 2     Basophilic Leukemia-Expressed Protein1
Basophilic Leukemia-Expressed Protein Bles032 3     P53262
Protein P53262 3     Basophilic Leukemia Expressed Protein BLES032
BLES032 3     UPF0696 Protein C11orf682

External Ids:    HGNC: 288011   Entrez Gene: 836382   Ensembl: ENSG000001755737   UniProtKB: Q9H3H33   

Export aliases for C11orf68 gene to outside databases

Previous GC identifers: GC11M065441 GC11M062010


(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 C11orf68 Gene:
C11orf68 (chromosome 11 open reading frame 68) is a protein-coding gene. Diseases associated with C11orf68 include leukemia.


(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_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C11orf68 gene promoter:
         TBP   STAT1   p300   ATF-2   Lmo2   Nkx2-5   HNF-4alpha1   Arnt   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C11orf68

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C11orf68


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13.1

C11orf68 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C11orf68 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M065684:  view genomic region     (about GC identifiers)

Start:
65,684,279 bp from pter      End:
65,686,588 bp from pter
Size:
2,310 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: CK068_HUMAN, Q9H3H3 (See protein sequence)
Recommended Name: UPF0696 protein C11orf68  
Size: 251 amino acids; 27355 Da
Sequence caution: Sequence=AAH13185.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for C11orf68:
1ZTP (3D)        2Q4K (3D)    
Secondary accessions: J3KQG9 Q9BT13
Alternative splicing: 3 isoforms:  Q9H3H3-1   Q9H3H3-2   Q9H3H3-3   

Explore the universe of human proteins at neXtProt for C11orf68: NX_Q9H3H3

Explore proteomics data for C11orf68 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C11orf68 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129107.1  NP_113638.2  

    ENSEMBL proteins: 
     ENSP00000398350   ENSP00000409681   ENSP00000433914  

    C11orf68 Human Recombinant Protein Products:

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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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    2 InterPro protein domains:
     IPR023398 TIF_eIF4e-like_dom
     IPR015034 DUF1917

    Graphical View of Domain Structure for InterPro Entry Q9H3H3

    ProtoNet protein and cluster: Q9H3H3

    UniProtKB/Swiss-Prot: CK068_HUMAN, Q9H3H3
    Similarity: Belongs to the UPF0696 family


    C11orf68 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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0044822poly(A) RNA binding IDA--
         
    C11orf68 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for C11orf68:
     Cell division defect  Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C11orf68
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    miRNA
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    miRTarBase miRNAs that target C11orf68:
    hsa-mir-20a-5p (MIRT050525), hsa-mir-23b-3p (MIRT046321)

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    Selected qRT-PCR Assays for microRNAs that regulate C11orf68 (see all 10):
    hsa-miR-203 hsa-miR-485-5p hsa-miR-3130-3p hsa-miR-15a hsa-miR-497 hsa-miR-7 hsa-miR-424 hsa-miR-16
    SwitchGear 3'UTR luciferase reporter plasmidC11orf68 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C11orf68

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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
    mitochondrion2
    cytosol1
    extracellular1
    nucleus1
    peroxisome1

    (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 C11orf68
    Interactions:

        Search GeneGlobe Interaction Network for C11orf68

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for C11orf68 (Q9H3H32, 3 ENSP000003983504) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNE3Q9Y6H62, 3, ENSP000003105574MINT-8259040 I2D: score=2 STRING: ENSP00000310557
    EIF4HQ150563, ENSP000002657534I2D: score=4 STRING: ENSP00000265753
    SH3GL3Q999633, ENSP000003913724I2D: score=4 STRING: ENSP00000391372
    KIAA0408Q6ZU523I2D: score=1 
    RUNX1T1Q064553I2D: 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 C11orf68 (CK068)



    (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 C11orf68 gene (2 alternative transcripts): 
    NM_001135635.1  NM_031450.3  

    Unigene Cluster for C11orf68:

    Chromosome 11 open reading frame 68
    Hs.433573  [show with all ESTs]
    Unigene Representative Sequence: BM548025
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438576(uc001ogi.3) ENST00000449692(uc009yqv.3) ENST00000530188

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C11orf68 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C11orf68 (see all 10):
    hsa-miR-203 hsa-miR-485-5p hsa-miR-3130-3p hsa-miR-15a hsa-miR-497 hsa-miR-7 hsa-miR-424 hsa-miR-16
    SwitchGear 3'UTR luciferase reporter plasmidC11orf68 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for C11orf68
    Predesigned siRNA for gene silencing in human, mouse, rat C11orf68
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    GenScript: all cDNA clones in your preferred vector (see all 2): C11orf68 (NM_031450)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C11orf68
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat C11orf68
      QuantiFast Probe-based Assays in human, mouse, rat C11orf68

    Additional mRNA sequence: 

    AF073483.1 BC004414.1 BC013185.1 

    4 DOTS entries:

    DT.112541  DT.92431932  DT.100780425  DT.95080714 

    Selected AceView cDNA sequences (see all 201):

    AI611287 AW134670 BI860854 CR609409 AA292685 AA375643 BE856019 AI676023 
    BF591008 CR595046 CR625973 AW295618 BG024832 BQ083428 BX332929 BQ072527 
    BG059616 CR594297 BG394174 CR620048 AI351004 BF476322 BG029209 CA388944 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for C11orf68    About this scheme

    ExUns: 1 ^ 2a · 2b
    SP1:                  
    SP2:                  


    ECgene alternative splicing isoforms for C11orf68

    (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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    C11orf68 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTGCTCC
    C11orf68 Expression
    About this image

    C11orf68 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C11orf68 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433573
        Custom PCR Arrays for C11orf68
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C11orf68

    (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 C11orf68 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AI8371811 , 5 expressed sequence AI8371811, 5 89.74(n)1
    94.87(a)1
      19 (4.32 cM)5
    1072421  NM_134149.21  NP_598910.21 
     54251575 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.203412 Transcribed sequence with weak similarity to protein more 71.44(n)    141991162 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc634702 hypothetical protein MGC63470 79.18(n)   393420  AY398392.1 


    ENSEMBL Gene Tree for C11orf68 (if available)
    TreeFam Gene Tree for C11orf68 (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 C11orf68 (see all 147)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888246181,2
    --65604566(+) GATGGC/TCAGGG 2 -- int10--------
    rs1815604721,2
    C--65604595(+) TGAATA/GGCAGG 2 -- int10--------
    rs107918321,2
    C,F,H--65604662(+) GCCTAG/AGGTGC 2 -- int127Minor allele frequency- A:0.16NS EA NA WA CSA 2353
    rs734964291,2
    C--65604689(+) CCATCC/ATCTGC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1861883291,2
    --65604693(+) CCTCTA/GCTCCC 2 -- int10--------
    rs1425281041,2
    --65604762(+) AAATGC/TACCCT 2 -- int10--------
    rs1447899011,2
    C--65604807(+) GGGGTC/TAACCC 2 -- int10--------
    rs801888061,2
    C,F--65604811(+) TCAACC/TCCTGG 2 -- int12Minor allele frequency- T:0.12WA EA 238
    rs122889111,2
    C,F,H--65605015(+) ACCACC/AAAGAC 2 -- int112Minor allele frequency- A:0.04NS EA NA WA 1666
    rs1482609131,2
    --65605096(+) TCAAAA/GTAGCC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for C11orf68 (65684279 - 65686588 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C11orf68:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897767CNV Loss21882294
    nsv897764CNV Loss21882294
    nsv832191CNV Loss17160897
    dgv1185n71CNV Loss21882294
    dgv393e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C11orf68
    DNA2.0 Custom Variant and Variant Library Synthesis for C11orf68

    (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 C11orf68:    About MalaCards
    leukemia


    C11orf68 for disorders           About GeneDecksing


    Export disorders for C11orf68 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 C11orf68 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with C11orf68)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The structure at 2.5 A resolution of human basophilic leukemia- expressed protein BLES03. (PubMed id 16511166)1, 2, 3, 9 Bitto E....Phillips G.N. Jr. (Acta Crystallogr. F 2005)
    2. 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)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    5. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    6. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    7. Ensemble refinement of protein crystal structures: validation and application. (PubMed id 17850744)2 Levin E.J.... Phillips G.N. Jr. (Structure 2007)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    9. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    10. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)

    (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: 83638 HGNC: 28801 AceView: Bles03 Ensembl:ENSG00000175573 euGenes: HUgn83638
    ECgene: C11orf68 H-InvDB: C11orf68

    (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 C11orf68 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 C11orf68 gene:
    Search GeneIP for patents involving C11orf68

    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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