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CCDC138 Gene

protein-coding   GIFtS: 38
GCID: GC02P109403

Coiled-Coil Domain Containing 138

  Search for CCDC138
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 1381 2
Coiled-Coil Domain-Containing Protein 1382

External Ids:    HGNC: 265311   Entrez Gene: 1650552   Ensembl: ENSG000001630067   UniProtKB: Q96M893   

Export aliases for CCDC138 gene to outside databases

Previous GC identifers: GC02P108769 GC02P103001


(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 CCDC138 Gene:
CCDC138 (coiled-coil domain containing 138) is a protein-coding gene.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC138 gene promoter:
         TBP   C/EBPalpha   Evi-1   FOXL1   AREB6   POU2F1   POU2F1a   POU2F1b   POU2F1c   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC138 promoter sequence
   Search Chromatin IP Primers for CCDC138

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC138


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

Entrez Gene cytogenetic band: 2q12.3   Ensembl cytogenetic band:  2q12.3   HGNC cytogenetic band: 2q13

CCDC138 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC138 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P109403:  view genomic region     (about GC identifiers)

Start:
109,403,213 bp from pter      End:
109,501,933 bp from pter
Size:
98,721 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CC138_HUMAN, Q96M89 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 138  
Size: 665 amino acids; 76219 Da
Secondary accessions: Q05DF1 Q4ZG07 Q53TE1 Q6ZUY5 Q86VL7
Alternative splicing: 2 isoforms:  Q96M89-1   Q96M89-2   

Explore the universe of human proteins at neXtProt for CCDC138: NX_Q96M89

Explore proteomics data for CCDC138 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19, Lys41, Lys157, Lys200, Lys230, Lys295, Lys313, Lys399, Lys463
  • Modification sites at PhosphoSitePlus

  • See CCDC138 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_659415.1  
    ENSEMBL proteins: 
     ENSP00000411800   ENSP00000386418   ENSP00000295124   ENSP00000407328   ENSP00000392385  
     ENSP00000477316  

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    Cloud-Clone Corp. CLIAs for CCDC138
    Search eBioscience for ELISAs for CCDC138 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q96M89


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, 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 CCDC138
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC138

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC138
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    hsa-miR-433
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC138

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC138

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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
    cytosol3
    nucleus2

    (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 CCDC138
    Interactions:

        Search GeneGlobe Interaction Network for CCDC138

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

    1 Interacting protein for CCDC138 (ENSP000002951244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    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 CCDC138 (CC138)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CCDC138 gene: 
    NM_144978.1  

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000412964(uc002teo.1) ENST00000409529(uc010fjm.1) ENST00000295124(uc002ten.1 uc002tep.1)
    ENST00000470608 ENST00000447782 ENST00000456512 ENST00000608781 ENST00000609740

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CCDC138:
    hsa-miR-433
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CCDC138

    Selected AceView cDNA sequences (see all 74):

    AA928223 AK057307 NM_144978 BC038421 BU184392 BG169724 BX095670 AA402749 
    AL712442 BQ007723 AA477249 BC050579 BM978983 F11750 AA401322 AI338844 
    BM975193 AA635151 CB268722 BG211179 BM471118 AL709871 BX280947 AU131168 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC138    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d
    SP1:                          -                                                                                                   
    SP2:                          -                                                                                                   
    SP3:                          -                                                                       -                           
    SP4:                                                                                                  -                           
    SP5:                                                                                            -     -                           


    ECgene alternative splicing isoforms for CCDC138

    (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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    CCDC138 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC138 Expression
    About this image

    CCDC138 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC138 Protein Expression
        Custom PCR Arrays for CCDC138
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC138

    (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 CCDC138 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1381 , 5 coiled-coil domain containing 1381, 5 81.67(n)1
    79.31(a)1
      10 (29.35 cM)5
    761381  NM_001162956.11  NP_001156428.11 
     584979705 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1386
    coiled-coil domain containing 138
    55(a)
    1 ↔ 1
    3(107401006-107453771)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.43172 Transcribed sequence with weak similarity to protein more 76.03(n)    AL872671.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC1386
    coiled-coil domain containing 138
    42(a)
    1 ↔ 1
    Zv9_NA472(102326-103337) ENSDARG00000090554


    ENSEMBL Gene Tree for CCDC138 (if available)
    TreeFam Gene Tree for CCDC138 (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 CCDC138 (see all 1754)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs8265551,2
    C,F,A,H--109052834(-) gagttA/Ccatct 1 -- us2k122Minor allele frequency- C:0.31NA EA NS WA 2590
    rs1416480561,2
    C--109053013(+) CTTAAC/TAGGTT 1 -- us2k10--------
    rs1920143171,2
    --109053101(+) GGCAGA/GACTAT 1 -- us2k10--------
    rs8265541,2
    C,F--109053165(-) TCCTCC/GAAGTT 1 -- us2k17Minor allele frequency- G:0.26NA WA CSA EA 365
    rs757849981,2
    C,F--109053168(+) TTGGAG/AGACGC 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs8265531,2
    C,F--109053176(-) TTGTCA/GGCGCG 1 -- us2k14Minor allele frequency- G:0.18NA WA 242
    rs1161626991,2
    F--109053178(+) CGCTGA/TCAAGC 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs1150544571,2
    F--109053183(+) ACAAGC/TCGGGC 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs101951661,2
    C,F--109053241(+) TGCCTC/TGGGGG 1 -- us2k11Minor allele frequency- T:0.14WA 118
    rs1506873071,2
    --109053290(+) AGCGCC/TGCGGG 1 -- ut510--------

    HapMap Linkage Disequilibrium report for CCDC138 (109403213 - 109501933 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CCDC138:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2872CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC138
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC138

    (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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      --

    (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 CCDC138 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with CCDC138)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The proteomic reactor facilitates the analysis of affinity-purified proteins by mass spectrometry: application for identifying ubiquitinated proteins in human cells. (PubMed id 17203973)1, 2 Vasilescu J.... Figeys D. (J. Proteome Res. 2007)
    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. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (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: 165055 HGNC: 26531 AceView: FLJ32745 Ensembl:ENSG00000163006 euGenes: HUgn165055
    ECgene: CCDC138 H-InvDB: CCDC138

    (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 CCDC138 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 CCDC138 gene:
    Search GeneIP for patents involving CCDC138

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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     Custom PCR Arrays for CCDC138 Search Chromatin IP Primers for CCDC138
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC138
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     Search Addgene for plasmids for CCDC138
      Search eBioscience for proteins for CCDC138
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      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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