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... See more...

Aliases for CCT5 Gene

Aliases for CCT5 Gene

  • Chaperonin Containing TCP1 Subunit 5 2 3 5
  • Chaperonin Containing TCP1, Subunit 5 (Epsilon) 2 3
  • T-Complex Protein 1 Subunit Epsilon 3 4
  • TCP-1-Epsilon 3 4
  • CCT-Epsilon 3 4
  • CCTE 3 4
  • Epididymis Secretory Protein Li 69 3
  • HEL-S-69 3
  • PNAS-102 3
  • KIAA0098 4

External Ids for CCT5 Gene

Previous GeneCards Identifiers for CCT5 Gene

  • GC05P010418
  • GC05P010283
  • GC05P010303

Summaries for CCT5 Gene

Entrez Gene Summary for CCT5 Gene

  • 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]

GeneCards Summary for CCT5 Gene

CCT5 (Chaperonin Containing TCP1 Subunit 5) is a Protein Coding gene. Diseases associated with CCT5 include Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive and Neuropathy. Among its related pathways are Chaperonin-mediated protein folding and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and G-protein beta-subunit binding. An important paralog of this gene is CCT4.

UniProtKB/Swiss-Prot Summary for CCT5 Gene

  • Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).

Gene Wiki entry for CCT5 Gene

Additional gene information for CCT5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCT5 Gene

Genomics for CCT5 Gene

GeneHancer (GH) Regulatory Elements for CCT5 Gene

Promoters and enhancers for CCT5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCT5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCT5

Top Transcription factor binding sites by QIAGEN in the CCT5 gene promoter:
  • AML1a
  • c-Myc
  • E2F
  • E2F-1
  • GATA-1
  • HOXA5
  • LCR-F1
  • Max1
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for CCT5 Gene

Genomic Locations for CCT5 Gene
chr5:10,249,929-10,266,389
(GRCh38/hg38)
Size:
16,461 bases
Orientation:
Plus strand
chr5:10,250,033-10,266,524
(GRCh37/hg19)
Size:
16,492 bases
Orientation:
Plus strand

Genomic View for CCT5 Gene

Genes around CCT5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCT5 Gene

Proteins for CCT5 Gene

  • Protein details for CCT5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48643-TCPE_HUMAN
    Recommended name:
    T-complex protein 1 subunit epsilon
    Protein Accession:
    P48643
    Secondary Accessions:
    • A8JZY8
    • A8K2X8
    • B4DYD8

    Protein attributes for CCT5 Gene

    Size:
    541 amino acids
    Molecular mass:
    59671 Da
    Quaternary structure:
    • Component of the chaperonin-containing T-complex (TRiC), a heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter (PubMed:20080638, PubMed:25467444). Interacts with PACRG (PubMed:14532270). Interacts with DNAAF4 (By similarity).
    SequenceCaution:
    • Sequence=BAA07894.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CCT5 Gene

    Alternative splice isoforms for CCT5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCT5 Gene

Post-translational modifications for CCT5 Gene

  • Ubiquitination at Lys20, Lys35, Lys42, Lys150, Lys64, Lys160, Lys176, Lys210, Lys232, Lys263, Lys265, Lys275, Lys284, Lys352, Lys378, Lys392, Lys439, Lys483, Lys496, Lys514, and Lys535
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCT5 Gene

Domains & Families for CCT5 Gene

Gene Families for CCT5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CCT5 Gene

Suggested Antigen Peptide Sequences for CCT5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52362, highly similar to T-complex protein 1 subunit epsilon (B4DYD8_HUMAN)
  • cDNA, FLJ79275, highly similar to T-complex protein 1 subunit epsilon (B7ZAR1_HUMAN)
  • CCT-epsilon (TCPE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48643

UniProtKB/Swiss-Prot:

TCPE_HUMAN :
  • Belongs to the TCP-1 chaperonin family.
Family:
  • Belongs to the TCP-1 chaperonin family.
genes like me logo Genes that share domains with CCT5: view

Function for CCT5 Gene

Molecular function for CCT5 Gene

UniProtKB/Swiss-Prot Function:
Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).
UniProtKB/Swiss-Prot Induction:
Down-regulated in response to enterovirus 71 (EV71) infection (at protein level).
GENATLAS Biochemistry:
chaperonin containing TCP1 (T complex protein 1),subunit 5 (epsilon),cytosolic,TF55/TCP-1 family

Phenotypes From GWAS Catalog for CCT5 Gene

Gene Ontology (GO) - Molecular Function for CCT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003730 mRNA 3'-UTR binding IDA 16213212
GO:0005515 protein binding IPI 14532270
GO:0005524 ATP binding IEA --
GO:0031681 G-protein beta-subunit binding IPI 19376773
GO:0048027 mRNA 5'-UTR binding IDA 16213212
genes like me logo Genes that share ontologies with CCT5: view
genes like me logo Genes that share phenotypes with CCT5: view

Human Phenotype Ontology for CCT5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCT5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CCT5 Gene

Localization for CCT5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCT5 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCT5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CCT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20080638
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CCT5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCT5 Gene

Pathways & Interactions for CCT5 Gene

genes like me logo Genes that share pathways with CCT5: view

Pathways by source for CCT5 Gene

1 GeneGo (Thomson Reuters) pathway for CCT5 Gene
  • Cell cycle_Role of APC in cell cycle regulation

Gene Ontology (GO) - Biological Process for CCT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007339 binding of sperm to zona pellucida IEA --
GO:0009615 response to virus IEP 16548883
GO:0032212 positive regulation of telomere maintenance via telomerase IMP 25467444
GO:0050821 protein stabilization IMP 25467444
genes like me logo Genes that share ontologies with CCT5: view

No data available for SIGNOR curated interactions for CCT5 Gene

Drugs & Compounds for CCT5 Gene

No Compound Related Data Available

Transcripts for CCT5 Gene

mRNA/cDNA for CCT5 Gene

5 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCT5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCT5 Gene

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: - - - -
SP6: - - - -
SP7: - - - - - - - -
SP8: - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: -
SP13:
SP14: -

ExUns: 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: - - - - -
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for CCT5 Gene

GeneLoc Exon Structure for
CCT5

Expression for CCT5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCT5 Gene



Protein tissue co-expression partners for CCT5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCT5

SOURCE GeneReport for Unigene cluster for CCT5 Gene:

Hs.1600

Evidence on tissue expression from TISSUES for CCT5 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Liver(4.8)
  • Blood(4.7)
  • Bone marrow(4.3)
  • Intestine(4.1)
  • Skin(4)
  • Eye(3.7)
  • Kidney(3.2)
  • Pancreas(3.2)
  • Stomach(2.7)
  • Heart(2.4)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCT5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
Thorax:
  • heart
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CCT5: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCT5 Gene

Orthologs for CCT5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCT5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCT5 31 30
  • 99.88 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCT5 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCT5 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCT5 31 30
  • 89.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCT5 31 30
  • 87.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cct5 17 31 30
  • 87.25 (n)
rat
(Rattus norvegicus)
Mammalia Cct5 30
  • 87.25 (n)
chicken
(Gallus gallus)
Aves CCT5 31 30
  • 80.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCT5 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cct5 30
  • 78 (n)
MGC76252 30
African clawed frog
(Xenopus laevis)
Amphibia cct5-prov 30
zebrafish
(Danio rerio)
Actinopterygii cct5 31 30
  • 76.16 (n)
OneToOne
kifc1 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3460 30
fruit fly
(Drosophila melanogaster)
Insecta Cct5 31 32 30
  • 66.54 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008249 30
  • 64.75 (n)
worm
(Caenorhabditis elegans)
Secernentea cct-5 31 32 30
  • 63.85 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR418W 30
  • 60.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13882g 30
  • 60.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCT5 33 31 30
  • 60.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G24510 30
  • 65.46 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10411 30
soybean
(Glycine max)
eudicotyledons Gma.2634 30
rice
(Oryza sativa)
Liliopsida Os06g0562600 30
  • 65.48 (n)
Os.10453 30
corn
(Zea mays)
Liliopsida Zm.5476 30
wheat
(Triticum aestivum)
Liliopsida Ta.19112 30
barley
(Hordeum vulgare)
Liliopsida Hv.4118 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3810 31
  • 75 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03980 30
  • 65.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cct5 30
  • 64.54 (n)
Species where no ortholog for CCT5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CCT5 Gene

ENSEMBL:
Gene Tree for CCT5 (if available)
TreeFam:
Gene Tree for CCT5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCT5: view image

Paralogs for CCT5 Gene

Paralogs for CCT5 Gene

(8) SIMAP similar genes for CCT5 Gene using alignment to 8 proteins:

  • TCPE_HUMAN
  • B4DYD8_HUMAN
  • B7ZAR1_HUMAN
  • D6RIZ7_HUMAN
  • E7ENZ3_HUMAN
  • E9PCA1_HUMAN
  • H0Y914_HUMAN
  • H0Y958_HUMAN

Pseudogenes.org Pseudogenes for CCT5 Gene

genes like me logo Genes that share paralogs with CCT5: view

Variants for CCT5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCT5 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
647544 Uncertain Significance: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 10,258,410(+) A/G MISSENSE_VARIANT
657209 Uncertain Significance: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 10,256,049(+) TG/CA MISSENSE_VARIANT
665323 Uncertain Significance: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 10,258,182(+) G/A MISSENSE_VARIANT
695832 Likely Benign: not provided 10,254,212(+) GT/G INTRON_VARIANT
698054 Likely Benign: not provided 10,262,507(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CCT5 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCT5 Gene

Variant ID Type Subtype PubMed ID
esv33231 CNV loss 17666407
nsv1029129 CNV gain 25217958
nsv461975 CNV gain 19166990
nsv597112 CNV gain 21841781
nsv830201 CNV gain 17160897

Variation tolerance for CCT5 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCT5 Gene

Human Gene Mutation Database (HGMD)
CCT5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCT5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCT5 Gene

Disorders for CCT5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CCT5 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
  • neuropathy, hereditary sensory, with spastic paraplegia
neuropathy
  • peripheral neuropathy
paraplegia
  • paraplegia, lower
hereditary sensory neuropathy
  • familial dysautonomia, type ii
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search CCT5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TCPE_HUMAN
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840]: A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs. {ECO:0000269 PubMed:16399879}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CCT5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCT5: view

No data available for Genatlas for CCT5 Gene

Publications for CCT5 Gene

  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. (PMID: 16399879) Bouhouche A … Yahyaoui M (Journal of medical genetics 2006) 3 4 23 54
  2. Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1. (PMID: 25467444) Freund A … Artandi SE (Cell 2014) 3 4 54
  3. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41 54
  4. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S … Sheffield VC (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 54
  5. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. (PMID: 19651702) Rotthier A … Timmerman V (Brain : a journal of neurology 2009) 3 41 54

Products for CCT5 Gene

Sources for CCT5 Gene