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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCT5 Gene

protein-coding   GIFtS: 65
GCID: GC05P010236

chaperonin containing TCP1, subunit 5 (epsilon)

 Explore 23 diseases affiliated with
CCT5 via our new
 Human Malady Compendium 
Biological research products
for CCT5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chaperonin Containing TCP1, Subunit 5 (Epsilon)1 2     TCP-1-Epsilon1
KIAA00981 3 5     T-Complex Protein 1 Subunit Epsilon2
CCTE2 3 5     T-Complex Protein 1, Epsilon Subunit2
CCT-Epsilon1     

External Ids:    HGNC: 16181   Entrez Gene: 229482   Ensembl: ENSG000001507537   OMIM: 6101505   UniProtKB: P486433   

Export aliases for CCT5 gene to outside databases

Previous GC identifers: GC05P010418 GC05P010283 GC05P010303


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CCT5:
The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex
(CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each
containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in
an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional
splice variants of this gene have been observed but have not been thoroughly characterized. In addition, three
pseudogenes of this gene have been identified. (provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: TCPE_HUMAN, P48643
Function: Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may
play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia.
Known to play a role, in vitro, in the folding of actin and tubulin

Gene Wiki entry for CCT5


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCT5 gene promoter:
         Max1   AML1a   NF-kappaB   LCR-F1   GATA-1   E2F-1   E2F   HOXA5   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCT5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCT5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCT5


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

Entrez Gene cytogenetic band: 5p15.2   Ensembl cytogenetic band:  5p15.2   HGNC cytogenetic band: 5p15.2

CCT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCT5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P010236:  view genomic region     (about GC identifiers)

Start:
10,250,033 bp from pter      End:
10,266,524 bp from pter
Size:
16,492 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TCPE_HUMAN, P48643 (See protein sequence)
Recommended Name: T-complex protein 1 subunit epsilon  
Size: 541 amino acids; 59671 Da
Subunit: Heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter.
Interacts with PACRG. Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3,
CCT4, CCT5 AND CCT8
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, centrosome
Sequence caution: Sequence=BAA07894.2; Type=Erroneous initiation;
Secondary accessions: A8JZY8

Explore the universe of human proteins at neXtProt for CCT5: NX_P48643

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48643

  • CCT5 Protein expression data from MOPED and PaxDb:    About this image 
    CCT5 Protein Expression
    REFSEQ proteins: NP_036205.1  
    ENSEMBL proteins: 
     ENSP00000280326   ENSP00000423318   ENSP00000426923   ENSP00000423087   ENSP00000425751  
     ENSP00000422744   ENSP00000427297   ENSP00000423052  
    Reactome Protein details: P48643
    Human Recombinant Protein Products for CCT5: 
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    Novus Biologicals CCT5 Protein
    Novus Biologicals CCT5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CCT5

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0005832chaperonin-containing T-complex IEA--

    CCT5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CCT5


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CCT5 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017998 Chaperone_TCP-1
     IPR002194 Chaperonin_TCP-1_CS
     IPR002423 Cpn60/TCP-1
     IPR012718 Chap_CCT_epsi

    Graphical View of Domain Structure for InterPro Entry P48643

    ProtoNet protein and cluster: P48643

    2 Blocks protein families:
    IPB001844 Chaperonin Cpn60
    IPB002194 Chaperonin TCP-1


    UniProtKB/Swiss-Prot: TCPE_HUMAN, P48643
    Similarity: Belongs to the TCP-1 chaperonin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TCPE_HUMAN, P48643
    Function: Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may
    play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia.
    Known to play a role, in vitro, in the folding of actin and tubulin
    Induction: Down-regulated in response to enterovirus 71 (EV71) infection (at protein level)

         Genatlas biochemistry entry for CCT5:
    chaperonin containing TCP1 (T complex protein 1),subunit 5 (epsilon),cytosolic,TF55/TCP-1 family

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0051082unfolded protein binding IEA--
         
    CCT5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CCT5:
     Decreased circadian period len  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CCT5 

    miRNA
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    hsa-miR-409-5p hsa-miR-4310 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidCCT5 3' UTR sequence
    Inhib. RNA
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CCT5 

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    Sirion Biotech Customized inducible overexpressing cell line services for CCT5

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCT5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of tubulin folding intermediates by CCT/TriC
    Formation of tubulin folding intermediates by CCT/TriC1.00
    Prefoldin mediated transfer of substrate to CCT/TriC0.70
    Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding0.74
    Folding of actin by CCT/TriC0.38
    2Chaperonin-mediated protein folding
    Chaperonin-mediated protein folding1.00
    Association of TriC/CCT with target proteins during biosynthesis0.60
    Protein folding0.91
    3Cell cycle Role of APC in cell cycle regulation
    Cell cycle Role of APC in cell cycle regulation1.00
    Cell cycle_Role of APC in cell cycle regulation0.98
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CCT5
        Cell cycle Role of APC in cell cycle regulation


    1 GeneGo (Thomson Reuters) Pathway for CCT5
        Cell cycle Role of APC in cell cycle regulation

    5/8        Reactome Pathways for CCT5 (see all 8)
        Formation of tubulin folding intermediates by CCT/TriC
    Association of TriC/CCT with target proteins during biosynthesis
    Chaperonin-mediated protein folding
    Prefoldin mediated transfer of substrate to CCT/TriC
    Metabolism of proteins



    CCT5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCT5

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

    5/967 Interacting proteins for CCT5 (P486432, 3 ENSP000002803264) via UniProtKB, MINT, STRING, and/or I2D (see all 967)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TCP1P179872, 3, ENSP000003173344MINT-7945693 MINT-8415355 MINT-7947479 I2D: score=6 STRING: ENSP00000317334
    CCT3P493682, 3, ENSP000003572444MINT-7945693 MINT-8415355 MINT-7947479 I2D: score=2 STRING: ENSP00000357244
    TP53P046372, 3, ENSP000002693054MINT-63773 MINT-8415355 I2D: score=5 STRING: ENSP00000269305
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000349960
    HNRNPH1P319432, 3, ENSP000003491684MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000349168
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS--
    GO:0009615response to virus IEP16548883
    GO:0044267cellular protein metabolic process TAS--
    GO:0051084'de novo' posttranslational protein folding TAS--

    CCT5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCT5
    Search CenterWatch for drugs/clinical trials and news about CCT5 / TCPE 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCT5 gene: 
    NM_012073.3  

    Unigene Cluster for CCT5:

    Chaperonin containing TCP1, subunit 5 (epsilon)
    Hs.1600  [show with all ESTs]
    Unigene Representative Sequence: NM_012073
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000280326(uc003jeq.3 uc011cmr.2 uc011cms.2 uc011cmt.2)
    ENST00000503026 ENST00000515390 ENST00000511700 ENST00000508451 ENST00000510326
    ENST00000512975 ENST00000423695(uc011cmq.2) ENST00000503454 ENST00000515676
    ENST00000506600 ENST00000514674 ENST00000509846 ENST00000511995

    miRNA
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    hsa-miR-409-5p hsa-miR-4310 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidCCT5 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF275798.1 AJ012489.1 AK124354.1 AK289353.1 AK290393.1 AK293341.1 AK293437.1 AK301760.1 
    AK301985.1 AK302368.1 AK302383.1 AK303086.1 AK303147.1 AK316376.1 BC002971.1 BC006543.2 
    BC009454.1 BC035499.2 BC040027.1 D43950.2 

    24/52 DOTS entries (see all 52):

    DT.100045540  DT.100637605  DT.100864008  DT.100872167  DT.100691724  DT.91892653  DT.100691732  DT.95204903 
    DT.120822030  DT.91970225  DT.100691735  DT.120821924  DT.95179368  DT.120821922  DT.97760563  DT.120821959 
    DT.91888838  DT.100691726  DT.120821908  DT.92058342  DT.91785056  DT.91896320  DT.95117642  DT.120821935 

    24/1343 AceView cDNA sequences (see all 1343):

    BU196345 AA659840 CR599726 BI087447 BM928602 CR594923 AW732002 CR616179 
    BE784327 AA426153 BM562376 BE295495 BQ937432 D43950 BG740874 BM551312 
    BE271627 BU527310 AA126599 AA737443 AA258262 AA298893 BX116069 CR617351 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for CCT5 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^
    SP1:                                            -                 -                                                           -                                 
    SP2:                                            -                 -                                               -     -     -     -     -                     
    SP3:                                                              -     -     -     -     -     -                             -                                 
    SP4:                                                                                                                          -                                 
    SP5:                                            -                 -           -                                               -                                 

    ExUns: 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                      -                           
    SP5:                                                                  


    ECgene alternative splicing isoforms for CCT5

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCT5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCATAGAAAC
    CCT5 Expression
    About this image
    See CCT5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCT5

    SOURCE GeneReport for Unigene cluster: Hs.1600
        SABiosciences Expression via Pathway-Focused PCR Arrays including CCT5: 

              Cellular Stress Responses in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CCT5 gene from 10/41 species (see all 41)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cct51 , 5 chaperonin containing Tcp1, subunit 5 (epsilon)1, 5 87.25(n)1
    96.3(a)1
      15 (13.02 cM)5
    124651  NM_007637.21  NP_031663.11 
     315908005 
    chicken
    (Gallus gallus)
    Aves CCT51 chaperonin containing TCP1, subunit 5 (epsilon) 80.9(n)
    91.31(a)
      420930  NM_001012563.1  NP_001012581.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCT56
    --
    88(a)
    1 ↔ 1
    4(82240740-82249292)
    African clawed frog
    (Xenopus laevis)
    Amphibia cct5-prov2 chaperonin containing TCP1, subunit 5 (epsilon) 79.23(n)    BC044997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kifc12 Danio rerio clone RK074A2D01 chaperonin containing more 78(n)    AY398321.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cct51 , 3 protein folding chaperonin ATPase3
    T-complex Chaperonin 51
    71(a)3
    66.54(n)1
    71.16(a)1
      363081  NM_078983.31  NP_523707.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cct-51 , 3 TCP-1 like chaperonin3
    Protein CCT-51
    70(a)3
    63.8(n)1
    68.91(a)1
      III(4571254-4579877)3
    1755881  NM_171104.21  NP_741117.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CCT5(YJR064W)4
    CCT51
    Subunit of the cytosolic chaperonin Cct ring complex, more4
    Cct5p1
    60.22(n)1
    60.59(a)1
      10(555914-557602)4
    8535271, 4  NP_012598.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G245101 T-complex protein 1 subunit epsilon 65.46(n)
    68.88(a)
      839066  NM_102295.5  NP_173859.1 
    rice
    (Oryza sativa)
    Liliopsida Os.104532 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.38(n)    AK067114.1 


    ENSEMBL Gene Tree for CCT5 (if available)
    TreeFam Gene Tree for CCT5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCT5 gene
    8 SIMAP similar genes for CCT5 using alignment to 8 protein entries:     TCPE_HUMAN (see all proteins):
    CCT4    CCT2    CCT3    TCP1    CCT8    CCT7
    CCT6A    CCT6B

    CCT5 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for CCT5
    PGOHUM00000249949 PGOHUM00000249957 PGOHUM00000251389


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/456 NCBI SNPs in CCT5 are shown (see all 456    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1182039861,2
    Cpathogenic10242489(+) TGAACA/GCCTGG 2 H R mis10--------
    rs38443051,2
    C,F,A,H--10234887(+) AAATCT/CAAAAT 1 -- us2k119Minor allele frequency- C:0.16NS EA NA WA CSA 2300
    rs38521641,2
    C,F,A,H--10235054(-) agtttA/Gcagtg 1 -- us2k116Minor allele frequency- G:0.17NS EA NA WA CSA 2052
    rs755463171,2
    C,F--10235451(+) ACACTT/CGGGGA 1 -- us2k14Minor allele frequency- C:0.23WA CSA NA 242
    rs100614521,2
    C,F,H--10235849(+) CTTGAA/TTCTCA 1 -- us2k17Minor allele frequency- T:0.11NS EA WA CSA 520
    rs715995241,2
    C--10236134(+) GAGCTC/TTGGTC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs131818091,2
    C,H--10236300(+) TCCATC/TGCGAG 1 -- us2k14Minor allele frequency- T:0.00NS EA 396
    rs131818101,2
    C--10236302(+) CATCGG/CGAGAT 1 -- us2k11Minor allele frequency- C:0.50NA 2
    rs1141025371,2
    C,F--10236443(+) CTTGGG/AACCCA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1126810571,2
    C--10236836(+) ACCGCA/G/TAGTCC 3 K E * mis1 stg11CSA 1

    HapMap Linkage Disequilibrium report for CCT5 (10250033 - 10266524 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CCT5
         1 CNV: 7462
    Human Gene Mutation Database (HGMD): CCT5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCT5
    DNA2.0 Custom Variant and Variant Library Synthesis for CCT5

    (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.)
    About This Section

    CCT5 for disorders           About GeneDecksing

    OMIM gene information: 610150   
    OMIM disorders: 256840  
    UniProtKB/Swiss-Prot: TCPE_HUMAN, P48643
  • Defects in CCT5 are the cause of hereditary sensory neuropathy autosomal recessive with spastic paraplegia
  • (HSNSP) [MIM:256840]. The disease is characterized by spastic paraplegia and progressive distal sensory neuropathy
    leading to mutilating ulcerations of the upper and lower limbs

    20/23 diseases for CCT5 (see all 23):    About MalaCards
    neuropathy, hereditary sensory, with spastic paraplegia    cerebral cavernous malformations    cavernous malformation    spastic paraplegia
    cerebral cavernous malformations 3    sensory peripheral neuropathy    hereditary sensory neuropathy    paraplegia
    autonomic neuropathy    anhidrosis    anorexia nervosa    spasticity
    neuropathy    peripheral neuropathy    down syndrome    myopia
    cerebritis    rhabdomyosarcoma    hepatocellular carcinoma    alzheimer's disease

    Human Genome Epidemiology (HuGE) Navigator: CCT5 (3 documents)

    Export disorders for CCT5 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)
    About This Section

    PubMed articles for CCT5 gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with CCT5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation in the epsilon subunit of the cytosolic chaperonin- containing T-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. (PubMed id 16399879)1, 2, 9 Bouhouche A.... Yahyaoui M. (2006)
    2. Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. (PubMed id 16548883)1, 2 Leong W.F. and Chow V.T. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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. (2004)
    5. A product of the human gene adjacent to parkin is a component of Lewy bodies and suppresses Pael receptor-induced cell death. (PubMed id 14532270)1, 2 Imai Y.... Takahashi R. (2003)
    6. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7788527)1, 2 Nagase T....Kotani H. (1995)
    7. A novel function of the human chaperonin CCT epsilon s ubunit in yeast. (PubMed id 22232265)1 Nikawa J. and Kimura M. (2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 22948 HGNC: 1618 AceView: CCT5 Ensembl:ENSG00000150753 euGenes: HUgn22948
    ECgene: CCT5 H-InvDB: CCT5

    (According to HUGE)
    About This Section
    HUGE: KIAA0098

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CCT5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CCT5 gene:
    Search GeneIP for patents involving CCT5

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Regulatory tfbs in CCT5 promoter
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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