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Aliases for CCT5 Gene

Aliases for CCT5 Gene

  • Chaperonin Containing TCP1 Subunit 5 2 3 5
  • Chaperonin Containing TCP1, Subunit 5 (Epsilon) 2 3
  • TCP-1-Epsilon 3 4
  • CCT-Epsilon 3 4
  • CCTE 3 4
  • T-Complex Protein 1 Subunit Epsilon 3
  • 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 Organelle biogenesis and maintenance 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.

UniProtKB/Swiss-Prot for CCT5 Gene

  • 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 Gene

Additional gene information for CCT5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCT5 Gene

Genomics for CCT5 Gene

GeneHancer (GH) Regulatory Elements for CCT5 Gene

Promoters and enhancers for CCT5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J010248 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 666.2 +0.4 440 4.1 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC CCT5 FAM173B ROPN1L-AS1 LINC02221 CTD-2154B17.1 ENSG00000248525 ENSG00000250001 MARCH6 CMBL ENSG00000271980
GH05J010237 Promoter 0.7 EPDnew 650.4 -12.4 -12369 0.1 MITF ZBTB33 CCT5 GC05P010230 FAM173B ENSG00000248968
GH05J010304 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 6.4 +58.3 58279 6.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B CMBL MARCH6 ROPN1L ROPN1L-AS1 FAM173B CCT5 ENSG00000271980 LOC105374651 GC05M010284
GH05J010266 Enhancer 1 Ensembl ENCODE 15.4 +17.4 17439 1.9 PKNOX1 FOXA2 ZNF548 FOS PAF1 CEBPB SREBF1 ZFP69B MTA1 SMARCA4 ENSG00000271980 CCT5 CMBL ENSG00000271715
GH05J010288 Enhancer 1.4 Ensembl ENCODE dbSUPER 6.9 +39.6 39626 3 PKNOX1 FOXA2 CLOCK SMAD1 NEUROD1 SIN3A FEZF1 YY1 ZNF121 GLIS2 ENSG00000271980 ENSG00000272417 CMBL FAM173B CCT5 GC05M010293 ENSG00000252341 ENSG00000271715 GC05M010284
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCT5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCT5 gene promoter:

Genomic Locations for CCT5 Gene

Genomic Locations for CCT5 Gene
chr5:10,249,921-10,266,412
(GRCh38/hg38)
Size:
16,492 bases
Orientation:
Plus strand
chr5:10,250,033-10,266,524
(GRCh37/hg19)

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:
    • 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. 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 Lys535, Lys514, posLast=496496, posLast=483483, Lys439, Lys392, posLast=378378, posLast=352352, posLast=284284, posLast=275275, Lys265, posLast=263263, posLast=232232, Lys210, Lys176, Lys160, Lys150, posLast=6464, Lys42, and posLast=3535
  • 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

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:
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.
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

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:0044183 protein binding involved in protein folding IBA --
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002199 zona pellucida receptor complex IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20080638
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CCT5: view

Pathways & Interactions for CCT5 Gene

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

Gene Ontology (GO) - Biological Process for CCT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006458 de novo protein folding IBA --
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
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

Unigene Clusters for CCT5 Gene

Chaperonin containing TCP1, subunit 5 (epsilon):
Representative Sequences:

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
ECgene alternative splicing isoforms for
CCT5

Expression for CCT5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CCT5 Gene:

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 34 33
  • 99.88 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCT5 34
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCT5 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCT5 34 33
  • 89.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCT5 34 33
  • 87.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cct5 16 34 33
  • 87.25 (n)
rat
(Rattus norvegicus)
Mammalia Cct5 33
  • 87.25 (n)
chicken
(Gallus gallus)
Aves CCT5 34 33
  • 80.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCT5 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cct5 33
  • 78 (n)
MGC76252 33
African clawed frog
(Xenopus laevis)
Amphibia cct5-prov 33
zebrafish
(Danio rerio)
Actinopterygii cct5 34 33
  • 76.16 (n)
OneToOne
kifc1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3460 33
fruit fly
(Drosophila melanogaster)
Insecta Cct5 34 35 33
  • 66.54 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008249 33
  • 64.75 (n)
worm
(Caenorhabditis elegans)
Secernentea cct-5 34 35 33
  • 63.85 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR418W 33
  • 60.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13882g 33
  • 60.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCT5 36 34 33
  • 60.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G24510 33
  • 65.46 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10411 33
soybean
(Glycine max)
eudicotyledons Gma.2634 33
rice
(Oryza sativa)
Liliopsida Os06g0562600 33
  • 65.48 (n)
Os.10453 33
wheat
(Triticum aestivum)
Liliopsida Ta.19112 33
barley
(Hordeum vulgare)
Liliopsida Hv.4118 33
corn
(Zea mays)
Liliopsida Zm.5476 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3810 34
  • 75 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03980 33
  • 65.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cct5 33
  • 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

(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

No data available for Paralogs for CCT5 Gene

Variants for CCT5 Gene

Sequence variations from dbSNP and Humsavar for CCT5 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1027635981 uncertain-significance, Sensory Neuropathy with Spastic Paraplegia 10,265,128(+) T/C 3_prime_UTR_variant
rs1042392 benign, Sensory Neuropathy with Spastic Paraplegia 10,256,049(+) T/A/C coding_sequence_variant, synonymous_variant
rs113262482 benign, Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 10,262,495(+) G/A coding_sequence_variant, synonymous_variant
rs114441137 likely-benign, Sensory Neuropathy with Spastic Paraplegia 10,265,649(+) A/C 3_prime_UTR_variant
rs114634318 uncertain-significance, Sensory Neuropathy with Spastic Paraplegia 10,261,625(+) G/A coding_sequence_variant, synonymous_variant

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

(6) MalaCards diseases for CCT5 Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
  • neuropathy, hereditary sensory, with spastic paraplegia
neuropathy
  • peripheral neuropathy
epididymo-orchitis
epididymitis
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 22 58
  2. 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 58
  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 44 58
  4. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. (PMID: 19651702) Rotthier A … Timmerman V (Brain : a journal of neurology 2009) 3 44 58
  5. A genome-wide scan maps a novel high myopia locus to 5p15. (PMID: 18421076) Lam CY … Lam DS (Investigative ophthalmology & visual science 2008) 3 44 58

Products for CCT5 Gene

Sources for CCT5 Gene

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