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Aliases for CCT5 Gene

Aliases for CCT5 Gene

  • Chaperonin Containing TCP1 Subunit 5 2 3
  • Chaperonin Containing TCP1, Subunit 5 (Epsilon) 2 3 5
  • 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 and hereditary sensory and autonomic neuropathy with spastic paraplegia. Among its related pathways are Transport to the Golgi and subsequent modification and Chaperonin-mediated protein folding. 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

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

Genomics for CCT5 Gene

Regulatory Elements for CCT5 Gene

Promoters for CCT5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCT5 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCT5 Gene

Chromosome:
5
Start:
10,249,921 bp from pter
End:
10,266,412 bp from pter
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:
    • 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 DYX1C1 (By similarity).
    SequenceCaution:
    • Sequence=BAA07894.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCT5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCT5 Gene

Proteomics data for CCT5 Gene at MOPED

Post-translational modifications for CCT5 Gene

  • Ubiquitination at Lys 35, Lys 42, Lys 64, Lys 150, Lys 160, Lys 176, Lys 210, Lys 232, Lys 263, Lys 265, Lys 275, Lys 284, Lys 352, Lys 378, Lys 392, Lys 439, Lys 483, Lys 496, Lys 514, and Lys 535
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCT5 Gene

Domains & Families for CCT5 Gene

Gene Families for CCT5 Gene

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

GENATLAS Biochemistry:
chaperonin containing TCP1 (T complex protein 1),subunit 5 (epsilon),cytosolic,TF55/TCP-1 family
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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CCT5 Gene COMPARTMENTS Subcellular localization image for CCT5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
peroxisome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 20080638
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:0044267 cellular protein metabolic process TAS --
GO:0050821 protein stabilization IMP 25467444
GO:1901998 toxin transport IEA --
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:

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 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, PaxDb, MOPED, and MaxQB for CCT5 Gene



SOURCE GeneReport for Unigene cluster for CCT5 Gene Hs.1600

genes like me logo Genes that share expression patterns with CCT5: view

Protein tissue co-expression partners for CCT5 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
CCT5 35
  • 99.88 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CCT5 36
  • 97 (a)
OneToOne
CCT5 35
  • 87.92 (n)
  • 97.41 (a)
dog
(Canis familiaris)
Mammalia CCT5 35
  • 89.53 (n)
  • 98.15 (a)
CCT5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cct5 16
Cct5 36
  • 96 (a)
OneToOne
Cct5 35
  • 87.25 (n)
  • 96.3 (a)
oppossum
(Monodelphis domestica)
Mammalia CCT5 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCT5 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cct5 35
  • 87.25 (n)
  • 96.49 (a)
chicken
(Gallus gallus)
Aves CCT5 35
  • 80.9 (n)
  • 91.31 (a)
CCT5 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCT5 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cct5-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cct5 35
  • 78 (n)
  • 89.83 (a)
MGC76252 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3460 35
zebrafish
(Danio rerio)
Actinopterygii cct5 36
  • 87 (a)
OneToOne
cct5 35
  • 76.16 (n)
  • 87.43 (a)
kifc1 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008249 35
  • 64.75 (n)
  • 70.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cct5 35
  • 66.54 (n)
  • 71.16 (a)
Cct5 36
  • 70 (a)
OneToOne
Cct5 37
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea cct-5 35
  • 63.85 (n)
  • 69.17 (a)
cct-5 37
  • 70 (a)
cct-5 36
  • 68 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR418W 35
  • 60.84 (n)
  • 63.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCT5 36
  • 58 (a)
OneToOne
CCT5 38
CCT5 35
  • 60.29 (n)
  • 60.59 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13882g 35
  • 60.41 (n)
  • 61.52 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10411 35
soybean
(Glycine max)
eudicotyledons Gma.2634 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G24510 35
  • 65.46 (n)
  • 68.88 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4118 35
corn
(Zea mays)
Liliopsida Zm.5476 35
rice
(Oryza sativa)
Liliopsida Os.10453 35
Os06g0562600 35
  • 65.48 (n)
  • 69.55 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.19112 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03980 35
  • 65.41 (n)
  • 70.19 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cct5 35
  • 64.54 (n)
  • 69.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3810 36
  • 75 (a)
OneToOne
Species with no ortholog for CCT5:
  • 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)

Paralogs for CCT5 Gene

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

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 Sequence Context AA Info Type
VAR_030658 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP)
rs11557652 - 10,256,060(+) TATTG(A/T)ACACC reference, missense
rs544 -- 10,264,850(-) GTAGA(C/G/T)GCATC utr-variant-3-prime
rs1042392 -- 10,256,049(-) GCAAC(A/G/T)CGAGC reference, synonymous-codon
rs699113 -- 10,264,964(-) GAGAT(A/G)GTACC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv33231 CNV Loss 17666407
nsv830201 CNV Gain 17160897
nsv881429 CNV Gain 21882294
nsv461975 CNV Gain 19166990

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)

Relevant External Links for CCT5 Gene

HapMap Linkage Disequilibrium report
CCT5
Human Gene Mutation Database (HGMD)
CCT5

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

Disorders for CCT5 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CCT5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory, with spastic paraplegia
  • neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
hereditary sensory and autonomic neuropathy with spastic paraplegia
  • hsan with spastic paraplegia
autosomal recessive sensory neuropathy with spastic paraplegia
spastic paraplegia 75
  • spg75
spastic paraplegia 43, autosomal recessive
  • autosomal recessive spastic paraplegia type 43
- 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.

Relevant External Links for CCT5

Genetic Association Database (GAD)
CCT5
Human Genome Epidemiology (HuGE) Navigator
CCT5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCT5
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. (J. Med. Genet. 2006) 3 4 23 67
  2. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3
  3. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3
  4. Cmr1/WDR76 defines a nuclear genotoxic stress body linking genome integrity and protein quality control. (PMID: 25817432) Gallina I. … Lisby M. (Nat Commun 2015) 3
  5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3

Products for CCT5 Gene

Sources for CCT5 Gene

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