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C9orf114 Gene

protein-coding   GIFtS: 50
GCID: GC09M131581

Chromosome 9 Open Reading Frame 114

  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 9 Open Reading Frame 1141 2
Centromere Protein 321 2
CENP-322
HSPC1092
Uncharacterized Protein C9orf1142

External Ids:    HGNC: 269331   Entrez Gene: 514902   Ensembl: ENSG000001989177   UniProtKB: Q5T2803   

Export aliases for C9orf114 gene to outside databases

Previous GC identifers: GC09M126958 GC09M128661 GC09M130621 GC09M101193


(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 C9orf114 Gene:
C9orf114 (chromosome 9 open reading frame 114) is a protein-coding gene. Diseases associated with C9orf114 include malaria.


(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_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C9orf114 gene promoter:
         N-Myc   Max1   AML1a   RREB-1   Lmo2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC9orf114 promoter sequence
   Search Chromatin IP Primers for C9orf114

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C9orf114


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.11

C9orf114 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf114 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M131581:  view genomic region     (about GC identifiers)

Start:
131,581,930 bp from pter      End:
131,592,100 bp from pter
Size:
10,171 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CI114_HUMAN, Q5T280 (See protein sequence)
Recommended Name: Uncharacterized protein C9orf114  
Size: 376 amino acids; 42009 Da
Secondary accessions: Q0D2P6 Q6P469 Q6PGP9 Q6PIJ1 Q6PJV9

Explore the universe of human proteins at neXtProt for C9orf114: NX_Q5T280

Explore proteomics data for C9orf114 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys66
  • Modification sites at PhosphoSitePlus

  • See C9orf114 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057474.2  
    ENSEMBL proteins: 
     ENSP00000354812   ENSP00000473640  

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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:
     IPR003750 Put_MeTrfase
     IPR012340 NA-bd_OB-fold

    Graphical View of Domain Structure for InterPro Entry Q5T280

    ProtoNet protein and cluster: Q5T280

    1 Blocks protein domain: IPB003750 Protein of unknown function DUF171


    C9orf114 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:0003674molecular_function ND--
    GO:0044822poly(A) RNA binding IDA--
         
    C9orf114 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C9orf114:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for D2Wsu81e):
     cellular  mortality/aging 

    C9orf114 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Endog/D2Wsu81eEndog/tm1Mxu for C9orf114

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C9orf114
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C9orf114

    miRNA
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    miRTarBase miRNAs that target C9orf114:
    hsa-mir-16-5p (MIRT005268), hsa-mir-10b-5p (MIRT047464), hsa-mir-1229-3p (MIRT036372), hsa-mir-26b-5p (MIRT028903)

    Block miRNA regulation of human, mouse, rat C9orf114 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate C9orf114:
    hsa-miR-550a
    SwitchGear 3'UTR luciferase reporter plasmidC9orf114 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat C9orf114

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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

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    C9orf114 for ontologies           About GeneDecksing


    (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 C9orf114
    Interactions:

        Search GeneGlobe Interaction Network for C9orf114

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

    Selected Interacting proteins for C9orf114 (Q5T2802, 3 ENSP000003548124) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253110 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253110 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253110 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253110 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253110 I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    C9orf114 for ontologies           About GeneDecksing



    (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 C9orf114 (CI114)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C9orf114 gene: 
    NM_016390.3  

    Unigene Cluster for C9orf114:

    Chromosome 9 open reading frame 114
    Hs.224137  [show with all ESTs]
    Unigene Representative Sequence: AL110193
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361256(uc004bwd.3) ENST00000467582 ENST00000480366 ENST00000466556
    ENST00000467396
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate C9orf114:
    hsa-miR-550a
    SwitchGear 3'UTR luciferase reporter plasmidC9orf114 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for C9orf114
    Predesigned siRNA for gene silencing in human, mouse, rat C9orf114
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C9orf114
      QuantiTect SYBR Green Assays in human, mouse, rat C9orf114
      QuantiFast Probe-based Assays in human, mouse, rat C9orf114

    Additional mRNA sequence: 

    AF161459.1 AK303563.1 AL110193.1 BC010579.1 BC021273.1 BC033677.1 BC039590.1 BC046133.1 
    BC056890.1 BC063644.1 

    11 DOTS entries:

    DT.101971449  DT.446191  DT.95129012  DT.100762395  DT.100785837  DT.100695027  DT.100775462  DT.121200438 
    DT.95359732  DT.121200444  DT.91752751 

    Selected AceView cDNA sequences (see all 294):

    BC021262 W74137 AA187874 NM_016390 BE883935 CR619510 BU633642 BC010579 
    CR606096 CD370333 AW297031 BE047121 CR623306 BM832951 BM692880 BU616618 
    BU730236 BI755163 X82224 BM759782 AW592713 BU557140 BG165482 AA557314 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf114    About this scheme

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


    ECgene alternative splicing isoforms for C9orf114

    (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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    C9orf114 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTTGTGGT
    C9orf114 Expression
    About this image

    C9orf114 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C9orf114 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.224137
        Custom PCR Arrays for C9orf114
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    In Situ
    Assay Products:
     

     
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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 eukaryotes.

    Orthologs for C9orf114 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D2Wsu81e1 , 5 DNA segment, Chr 2, Wayne State University 81, expressed1, 5 85.65(n)1
    90.37(a)1
      2 (21.29 cM)5
    2276951  NM_172660.41  NP_766248.31 
     301734535 
    chicken
    (Gallus gallus)
    Aves C17H9orf1141 chromosome 17 open reading frame, human C9orf114 72.33(n)
    73.7(a)
      100858830  XM_003642281.2  XP_003642329.1 
    lizard
    (Anolis carolinensis)
    Reptilia C9orf1146
    chromosome 9 open reading frame 114
    73(a)
    1 ↔ 1
    AAWZ02036318(1365-13507)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.263562 Xenopus laevis transcribed sequence with weak similarity more 74.54(n)    BU900366.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb902 sbcb90 79.17(n)   321083  BI850023.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121281 CG12128 56.12(n)
    54.88(a)
      36042  NM_136699.3  NP_610543.1 
    worm
    (Caenorhabditis elegans)
    Secernentea B0361.61 B0361.6 48.74(n)
    44.48(a)
      176028  NM_066201.3  NP_498602.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YGR283C)4 Protein of unknown function; may interact with ribosomes, more   --   7(1060040-1059015) 853200  NP_011799.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G193001 AT5G19300 51.01(n)
    47.97(a)
      832050  NM_121935.3  NP_197431.2 
    rice
    (Oryza sativa)
    Liliopsida Os.96922 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.58(n)    AK065922.1 


    ENSEMBL Gene Tree for C9orf114 (if available)
    TreeFam Gene Tree for C9orf114 (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 C9orf114 (see all 262)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs44258531,2
    C,F,A,H--131585475(+) TGCTCG/AGCTTG 1 -- int112Minor allele frequency- A:0.09NS EA NA CSA WA 900
    rs1908879391,2
    --131585480(+) GGCTTA/GGGCAA 1 -- int10--------
    rs45952311,2
    C,F,H--131585495(+) TTAGGG/AATGGG 1 -- int19Minor allele frequency- A:0.09NS EA CSA WA NA 780
    rs1831480211,2
    --131585537(+) GGGAGC/TACCAG 1 -- int10--------
    rs1478662991,2
    --131585674(+) GAGACC/TCCAAG 1 -- int10--------
    rs346505921,2
    C,F--131585700(+) CCCACC/AGTGGT 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1860045201,2
    --131585757(+) CGCACA/GGCTAA 1 -- int10--------
    rs625836401,2
    C,F--131585761(+) CGGCTA/GAGGAA 1 -- int12Minor allele frequency- G:0.04NA 122
    rs22808421,2
    C,F,H--131585808(-) ACTGGC/GTGACC 1 -- int113Minor allele frequency- G:0.39EA NS NA WA 2286
    rs1124583761,2
    C,F--131585828(+) CAGGAC/TGGGCA 1 -- int13Minor allele frequency- T:0.08CSA WA 122

    HapMap Linkage Disequilibrium report for C9orf114 (131581930 - 131592100 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for C9orf114:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6724CNV Insertion18451855
    nsv893901CNV Loss21882294
    dgv8297n71CNV Loss21882294
    dgv8296n71CNV Loss21882294
    nsv521120CNV Loss19592680
    nsv893902CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C9orf114
    DNA2.0 Custom Variant and Variant Library Synthesis for C9orf114

    (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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    1 disease for C9orf114:    
    About MalaCards
    malaria


    C9orf114 for disorders           About GeneDecksing


    Export disorders for C9orf114 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 C9orf114 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with C9orf114)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. (PubMed id 20813266)1, 3 Ohta S....Rappsilber J. (Cell 2010)
    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. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    8. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    9. 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)
    10. 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
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51490 HGNC: 26933 AceView: CCBL1andC9orf114 Ensembl:ENSG00000198917 euGenes: HUgn51490
    ECgene: C9orf114 H-InvDB: C9orf114

    (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 C9orf114 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 C9orf114 gene:
    Search GeneIP for patents involving C9orf114

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



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