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

Gene ID: 22948, updated on 3-May-2020

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
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 ATP synthase c subunit lysine N-methyltransferase Neighboring gene CRISPRi-validated cis-regulatory element chr5.702 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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 
unfolded protein binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
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 TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 

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, ENST00000503026.5
    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, ENST00000515390.5
    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, ENST00000506600.1
    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, ENST00000515676.5
    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_012073.5NP_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)
    FJ224303
    Consensus CDS
    CCDS3877.1
    UniProtKB/Swiss-Prot
    P48643
    UniProtKB/TrEMBL
    V9HW37
    Related
    ENSP00000280326.4, ENST00000280326.9
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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