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CCDC181 Gene

protein-coding   GIFtS: 38
GCID: GC01M169365

Coiled-Coil Domain Containing 181

(Previous name: chromosome 1 open reading frame 114)
(Previous symbol: C1orf114)
  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
Coiled-Coil Domain Containing 1811 2
C1orf1141 2 3
Chromosome 1 Open Reading Frame 1141
Coiled-Coil Domain-Containing Protein 1812

External Ids:    HGNC: 280511   Entrez Gene: 578212   Ensembl: ENSG000001174777   UniProtKB: Q5TID73   

Export aliases for CCDC181 gene to outside databases


(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 CCDC181 Gene:
CCDC181 (coiled-coil domain containing 181) is a protein-coding gene. Diseases associated with CCDC181 include essential hypertension, and hypertension.


(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_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CCDC181
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC181

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC181


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

Entrez Gene cytogenetic band: 1q24   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24

CCDC181 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC181 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M169365:  view genomic region     (about GC identifiers)

Start:
169,364,108 bp from pter      End:
169,429,907 bp from pter
Size:
65,800 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: CC181_HUMAN, Q5TID7 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 181  
Size: 509 amino acids; 60103 Da
Sequence caution: Sequence=AAH26073.1; Type=Frameshift; Positions=370; Sequence=CAI19784.1; Type=Erroneous gene
model prediction;
Secondary accessions: O60780 Q53FD5 Q5TID9 Q8TC48
Alternative splicing: 3 isoforms:  Q5TID7-1   Q5TID7-2   Q5TID7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC181: NX_Q5TID7

Explore proteomics data for CCDC181 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC181 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067002.1  
    ENSEMBL proteins: 
     ENSP00000356780   ENSP00000356779   ENSP00000411000   ENSP00000442297  

    CCDC181 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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:
     IPR026687 UPF_C1orf114

    Graphical View of Domain Structure for InterPro Entry Q5TID7

    ProtoNet protein and cluster: Q5TID7


    CCDC181 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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    Phenotypes:
         1 MGI phenotypic allele for 4930455F23Rik (no phenotypes)

    CCDC181 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC181
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    miRTarBase miRNAs that target CCDC181:
    hsa-mir-26b-5p (MIRT029338), hsa-mir-92a-3p (MIRT049728)

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    SwitchGear 3'UTR luciferase reporter plasmidCCDC181 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC181

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC181

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC181


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    CCDC181 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 CCDC181
    Interactions:

        Search GeneGlobe Interaction Network for CCDC181

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for CCDC181 (Q5TID72, 3 ENSP000003567794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAP621362, 3MINT-62202 I2D: score=3 
    YWHAGP619813I2D: score=2 
    CCNB1IP1ENSP000003373964STRING: ENSP00000337396
    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 CCDC181 (CC181)



    (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 CCDC181 gene: 
    NM_021179.1  

    Unigene Cluster for CCDC181:

    Coiled-coil domain containing 181
    Hs.567557  [show with all ESTs]
    Unigene Representative Sequence: AK313598
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367806 ENST00000367805(uc001gfz.1 uc001gga.1) ENST00000491570(uc001ggb.3)
    ENST00000456107(uc001ggc.1) ENST00000545005(uc009wvq.1)
    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate CCDC181
    SwitchGear 3'UTR luciferase reporter plasmidCCDC181 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC181
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC181
    Primer
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    OriGene qPCR primer pairs and template standards for CCDC181
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC181
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CCDC181
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC181
      QuantiFast Probe-based Assays in human, mouse, rat CCDC181

    Additional mRNA sequence: 

    AK098712.1 AK223354.1 AK313598.1 AL049687.1 BC008388.1 BC008389.1 BC026073.2 

    7 DOTS entries:

    DT.402608  DT.100744726  DT.97821042  DT.91758192  DT.40279203  DT.95195757  DT.121626340 

    Selected AceView cDNA sequences (see all 41):

    BP348964 BM685150 BU685695 CD679170 BU688736 AL049687 CR599271 AL537439 
    NM_021179 BE877773 BU619840 BU675560 AK098712 BI761685 BG721365 AA205243 
    BX645229 BX431228 BC026073 CA428805 AA776749 AA724861 BG717436 BC008388 

    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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    CCDC181 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC181 Expression
    About this image


    CCDC181 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Ovary (Reproductive System)
             Oviduct
    CCDC181 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC181 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567557
        Custom PCR Arrays for CCDC181
    Primer
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    OriGene qPCR primer pairs and template standards for CCDC181
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC181
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC181

    (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 CCDC181 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930455F23Rik5
    Ccdc1811
    RIKEN cDNA 4930455F23 gene5
    coiled-coil domain containing 1811
    79.62(n)1
    75.35(a)1
      1 (71.59 cM)5
    748951  NM_029115.31  NP_083391.21 
     1642755855 
    chicken
    (Gallus gallus)
    Aves C1H1ORF1141 chromosome 1 open reading frame, human C1orf114 61.95(n)
    54.14(a)
      418370  XM_416589.3  XP_416589.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1816
    coiled-coil domain containing 181
    47(a)
    1 ↔ 1
    3(175662456-175676301)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-232d19.41 si:ch211-232d19.4 52.17(n)
    43.04(a)
      566663  NM_001128540.1  NP_001122012.1 


    ENSEMBL Gene Tree for CCDC181 (if available)
    TreeFam Gene Tree for CCDC181 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC181 gene

    CCDC181 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CCDC181
    PGOHUM00000239300


    (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 CCDC181 (see all 604)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1901309771,2
    --169366359(+) AGGTAC/TGTGCT 1 -- int10--------
    rs1467263301,2
    C--169366433(+) TGAACA/GTGAGG 1 -- int10--------
    rs2015132341,2
    --169366434(+) GAACAC/TGAGGA 1 -- int10--------
    rs1441737431,2
    C--169366494(+) TTCCCG/AGCCTT 2 /R /W mis11Minor allele frequency- A:0.00NA 4552
    rs22728011,2
    C,F,O,H--169366516(-) TTATTC/TTTCCT 2 F syn124Minor allele frequency- T:0.18EA NA NS WA EU 9613
    rs2007694421,2
    --169366525(+) AAACAC/TTCCTC 2 E syn10--------
    rs2000914091,2
    --169366557(+) CTGTCC/TTTCTT 2 R G mis10--------
    rs1436419791,2
    C,F--169366558(+) TGTCTT/GTCTTT 2 /E /D mis11Minor allele frequency- G:0.00NA 4550
    rs1827927361,2
    --169366943(+) ATAAGA/GAAAAG 1 -- int10--------
    rs1874806291,2
    --169366959(+) AGGAGG/TGGCTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC181 (169364108 - 169429907 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CCDC181: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC181
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC181

    (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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    2 diseases for CCDC181:    
    About MalaCards
    essential hypertension    hypertension


    CCDC181 for disorders           About GeneDecksing


    Export disorders for CCDC181 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 CCDC181 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC181)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA methylation signatures for prediction of biochemical recurrence after radical prostatectomy of clinically localized prostate cancer. (PubMed id 23918943)1 Haldrup C....rensen K.D. (J. Clin. Oncol. 2013)
    2. 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)
    3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)1 Colland F....Gauthier J.M. (Genome Res. 2004)
    7. 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. (Genome Res. 2004)
    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)
    9. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)
    10. (PubMed id )2 

    (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: 57821 HGNC: 28051 AceView: LOC57821 Ensembl:ENSG00000117477 euGenes: HUgn57821
    ECgene: CCDC181 H-InvDB: CCDC181

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CCDC181 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 CCDC181 gene:
    Search GeneIP for patents involving CCDC181

    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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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