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CCDC157 Gene

protein-coding   GIFtS: 42
GCID: GC22P030752

Coiled-Coil Domain Containing 157

  Search for CCDC157
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Coiled-Coil Domain Containing 1571 2
Coiled-Coil Domain-Containing Protein 1572
KIAA16563

External Ids:    HGNC: 338541   Entrez Gene: 5506312   Ensembl: ENSG000001878607   UniProtKB: Q569K63   
ORGUL members:         

Export aliases for CCDC157 gene to outside databases

Previous GC identifers: GC22P029082 GC22P013714


(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 CCDC157 Gene:
CCDC157 (coiled-coil domain containing 157) 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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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC157 gene promoter:
         SRF   E2F-4   E2F-3a   E2F-5   p53   E2F-2   GATA-2   E2F   E2F-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC157

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC157


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

CCDC157 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC157 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P030752:  view genomic region     (about GC identifiers)

Start:
30,752,624 bp from pter      End:
30,774,647 bp from pter
Size:
22,024 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: CC157_HUMAN, Q569K6 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 157  
Size: 752 amino acids; 83941 Da
Sequence caution: Sequence=AAH92419.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB33326.1; Type=Miscellaneous discrepancy; Note=Intron retention. This sequence is incomplete at the
5'- and 3'-ends and extensively differs from that shown due to multiple introns;
Secondary accessions: Q0VD76 Q9BYA4

Explore the universe of human proteins at neXtProt for CCDC157: NX_Q569K6

Explore proteomics data for CCDC157 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC157 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001017437.2  
    ENSEMBL proteins: 
     ENSP00000382720   ENSP00000385357   ENSP00000387491   ENSP00000401837   ENSP00000343087  

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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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    ProtoNet protein and cluster: Q569K6


    (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 GenomeRNAi human phenotype for CCDC157:
     Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC157
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    hsa-miR-3194-5p
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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
    nucleus2
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----

    CCDC157 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 CCDC157
    Interactions:

        Search GeneGlobe Interaction Network for CCDC157

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192vesicle-mediated transport ----

    CCDC157 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 CCDC157 (CC157)



    (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 CCDC157 gene: 
    NM_001017437.2  

    Unigene Cluster for CCDC157:

    Coiled-coil domain containing 157
    Hs.505597  [show with all ESTs]
    Unigene Representative Sequence: CR936833
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399824 ENST00000405659(uc011aku.2 uc011akv.2) ENST00000445005
    ENST00000430839 ENST00000475975 ENST00000482413 ENST00000338306
    miRNA
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    hsa-miR-3194-5p
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CCDC157

    Additional mRNA sequence: 

    BC018040.1 BC092419.1 BC119799.1 BC127255.1 CR936833.1 

    9 DOTS entries:

    DT.40297698  DT.75198061  DT.219200  DT.70103525  DT.75196711  DT.40214068  DT.95271017  DT.40214031 
    DT.439908 

    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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    CCDC157 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCCTGTGG
    CCDC157 Expression
    About this image

    CCDC157 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC157 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505597
        Custom PCR Arrays for CCDC157
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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 chordates.

    Orthologs for CCDC157 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1571 , 5 coiled-coil domain containing 1571, 5 82.41(n)1
    77.09(a)1
      11 (2.90 cM)5
    2165161  NM_001164620.11  NP_001158092.11 
     41411235 
    chicken
    (Gallus gallus)
    Aves CCDC1571 coiled-coil domain containing 157 60.75(n)
    47.35(a)
      417010  XM_415300.4  XP_415300.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1576
    coiled-coil domain containing 157
    39(a)
    1 ↔ 1
    GL343417.1(125133-128548)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc1571 coiled-coil domain containing 157 52.77(n)
    43.19(a)
      100494973  XM_002934272.2  XP_002934318.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc1571 coiled-coil domain containing 157 51.84(n)
    43.76(a)
      368731  XM_002663174.3  XP_002663220.3 


    ENSEMBL Gene Tree for CCDC157 (if available)
    TreeFam Gene Tree for CCDC157 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC157 gene
    1 SIMAP similar gene for CCDC157 using alignment to 4 protein entries:     CC157_HUMAN (see all proteins):
    SPRR1A

    CCDC157 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 CCDC157 (see all 208)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs59976211,2
    C,F,H--30754972(+) CCTGAC/TACTTG 1 -- int17Minor allele frequency- T:0.08NS EA WA CSA 536
    rs1901237521,2
    C--30755120(+) AGATGC/GTTTGC 1 -- int10--------
    rs57530921,2
    C,F--30755168(+) GATTTC/ATTTAT 1 -- int18Minor allele frequency- A:0.36WA NA CSA EA 367
    rs57530931,2
    C,F--30755172(+) TCTTTA/CTTTCT 1 -- int17Minor allele frequency- C:0.35WA NA CSA EA 366
    rs569271761,2
    C,F--30755322(+) ATGTGG/AGCATG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1180453281,2
    C,F--30755525(+) CATTTG/ACTGAA 1 -- int11Minor allele frequency- A:0.01NA 120
    rs96088901,2
    H--30755526(+) atttgC/Ttgaat 1 -- int14Minor allele frequency- T:0.00NS EA 416
    rs749303561,2
    C,F--30755548(+) ATCCAA/GCCCTC 1 -- int13Minor allele frequency- G:0.09NA WA 240
    rs1400895291,2
    C--30755667(+) TAATAC/TCATAA 1 -- int10--------
    rs1821995521,2
    C--30755674(+) ATAAAA/TATGTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC157 (30752624 - 30774647 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CCDC157:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829171CNV Loss20364138
    nsv914970CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CCDC157
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC157

    (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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    CCDC157 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: CCDC157 (1 document)

    Export disorders for CCDC157 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 CCDC157 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC157)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetics of coronary artery calcification among African Americans, a meta-analysis. (PubMed id 23870195)1 Wojczynski M.K....Reilly M.P. (BMC Med. Genet. 2013)
    2. 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)
    3. 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)
    4. 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)
    5. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)2 Hirosawa M.... Ohara O. (DNA Res. 2001)
    6. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)

    (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: 550631 HGNC: 33854 Ensembl:ENSG00000187860 euGenes: HUgn550631 ECgene: CCDC157
    H-InvDB: CCDC157

    (According to HUGE)
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    HUGE: KIAA1656

    (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 CCDC157 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 CCDC157 gene:
    Search GeneIP for patents involving CCDC157

    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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