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    CCT5 chaperonin containing TCP1 subunit 5 [ Homo sapiens (human) ]

    Gene ID: 22948, updated on 12-Aug-2018

    Summary

    Official Symbol
    CCT5provided by HGNC
    Official Full Name
    chaperonin containing TCP1 subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:1618
    See related
    Ensembl:ENSG00000150753 MIM:610150; Vega:OTTHUMG00000131042
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCTE; HEL-S-69; PNAS-102; CCT-epsilon; TCP-1-epsilon
    Summary
    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. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
    Expression
    Ubiquitous expression in testis (RPKM 38.0), appendix (RPKM 31.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See CCT5 in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (10249921..10266412)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10250041..10266501)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986405 Neighboring gene family with sequence similarity 173 member B Neighboring gene uncharacterized LOC105374651 Neighboring gene carboxymethylenebutenolidase homolog

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
    MedGen: C1850395 OMIM: 256840 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with CCT5 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0098

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    G-protein beta-subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA 5'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chaperonin-containing T-complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chaperonin-containing T-complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chaperonin-containing T-complex TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    T-complex protein 1 subunit epsilon
    Names
    chaperonin containing TCP1, subunit 5 (epsilon)
    epididymis secretory protein Li 69

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012160.1 RefSeqGene

      Range
      5001..21220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_361

    mRNA and Protein(s)

    1. NM_001306153.1NP_001293082.1  T-complex protein 1 subunit epsilon isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon, resulting in translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AI290125, AI470998, AK301760, DC368224, FJ224303
      Consensus CDS
      CCDS82988.1
      UniProtKB/TrEMBL
      B4DX08, E9PCA1, V9HW37
      Related
      ENSP00000423318.1, OTTHUMP00000220727, ENST00000503026.5, OTTHUMT00000366056
      Conserved Domains (1) summary
      cd03339
      Location:15514
      TCP1_epsilon; TCP-1 (CTT or eukaryotic type II) chaperonin family, epsilon subunit. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings. In contrast to bacterial group I chaperonins ...
    2. NM_001306154.1NP_001293083.1  T-complex protein 1 subunit epsilon isoform c

      See identical proteins and their annotated locations for NP_001293083.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AI290125, AI470998, AK302368, DC368224, DC395133, FJ224303
      Consensus CDS
      CCDS82989.1
      UniProtKB/TrEMBL
      B4DYC8, E7ENZ3, V9HW37
      Related
      ENSP00000426923.1, OTTHUMP00000220728, ENST00000515390.5, OTTHUMT00000366057
      Conserved Domains (1) summary
      cd03339
      Location:10480
      TCP1_epsilon; TCP-1 (CTT or eukaryotic type II) chaperonin family, epsilon subunit. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings. In contrast to bacterial group I chaperonins ...
    3. NM_001306155.1NP_001293084.1  T-complex protein 1 subunit epsilon isoform d

      See identical proteins and their annotated locations for NP_001293084.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, resulting in an alternate 5' UTR and translation initiation at a downstream in-frame start codon, and it also lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AC012640, AI290125, AI470998, AK302383, DB449481, FJ224303
      Consensus CDS
      CCDS82990.1
      UniProtKB/Swiss-Prot
      P48643
      UniProtKB/TrEMBL
      V9HW37
      Related
      ENSP00000423052.1, OTTHUMP00000221653, ENST00000506600.1, OTTHUMT00000366908
      Conserved Domains (1) summary
      cd03339
      Location:1442
      TCP1_epsilon; TCP-1 (CTT or eukaryotic type II) chaperonin family, epsilon subunit. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings. In contrast to bacterial group I chaperonins ...
    4. NM_001306156.1NP_001293085.1  T-complex protein 1 subunit epsilon isoform e

      See identical proteins and their annotated locations for NP_001293085.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon, resulting in an alternate 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AC012640, AI290125, AI470998, AK293341, DB449481, FJ224303
      Consensus CDS
      CCDS77996.1
      UniProtKB/TrEMBL
      B4DDU6, B7ZAR1, V9HW37
      Related
      ENSP00000427297.1, OTTHUMP00000220953, ENST00000515676.5, OTTHUMT00000366640
      Conserved Domains (1) summary
      cd03339
      Location:1497
      TCP1_epsilon; TCP-1 (CTT or eukaryotic type II) chaperonin family, epsilon subunit. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings. In contrast to bacterial group I chaperonins ...
    5. NM_012073.4NP_036205.1  T-complex protein 1 subunit epsilon isoform a

      See identical proteins and their annotated locations for NP_036205.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AI290125, AI470998, DC368224, DC395133, FJ224303
      Consensus CDS
      CCDS3877.1
      UniProtKB/Swiss-Prot
      P48643
      UniProtKB/TrEMBL
      V9HW37
      Related
      ENSP00000280326.4, OTTHUMP00000161671, ENST00000280326.8, OTTHUMT00000253688
      Conserved Domains (1) summary
      cd03339
      Location:10535
      TCP1_epsilon; TCP-1 (CTT or eukaryotic type II) chaperonin family, epsilon subunit. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings. In contrast to bacterial group I chaperonins ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      10249921..10266412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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