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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 and Autosomal Recessive Sensory Neuropathy With Spastic Paraplegia. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCT5 Gene

Genomics for CCT5 Gene

Regulatory Elements for CCT5 Gene

Enhancers for CCT5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G010248 1.4 ENCODE dbSUPER 16.2 +0.4 440 4.1 MLX CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 CCT5 MARCH6 CMBL ENSG00000271980 ROPN1L-AS1 ROPN1L FAM173B GC05M010252
GH05G010266 1.1 Ensembl ENCODE 15.4 +17.4 17439 1.9 PKNOX1 FOXA2 AGO1 FOS ZNF548 DEK PAF1 CEBPB SREBF1 SMARCA4 CCT5 CMBL ENSG00000271980 ENSG00000271715
GH05G010304 1.7 Ensembl ENCODE dbSUPER 6.4 +58.3 58280 6.6 CREB3L1 DMAP1 YY1 ZNF263 SP3 SSRP1 ZNF610 ZNF585B GLIS1 NBN MARCH6 CMBL ROPN1L-AS1 ROPN1L FAM173B CCT5 ENSG00000271980 LOC105374651
GH05G010288 1.5 Ensembl ENCODE dbSUPER 6.9 +39.6 39627 3.0 PKNOX1 SIN3A FEZF1 YY1 ZNF121 GLIS2 FOS KLF7 ZNF263 YY2 ENSG00000271980 CMBL FAM173B CCT5 GC05M010293 ENSG00000252341 ENSG00000271715
GH05G010264 0.6 ENCODE 15.5 +14.9 14903 0.2 POLR2A BHLHE40 SCRT2 CEBPB CEBPG SUPT5H CCT5 CMBL MARCH6 ANKRD33B-AS1 ROPN1L-AS1 ROPN1L ENSG00000271980 PIR52519
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCT5 on UCSC Golden Path with GeneCards custom track

Promoters for CCT5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000178029 479 2401 MLX CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21

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

Post-translational modifications for CCT5 Gene

  • Ubiquitination at posLast=3535, Lys42, Lys64, Lys150, Lys160, posLast=176176, posLast=210210, posLast=232232, posLast=263263, Lys265, posLast=275275, Lys284, posLast=352352, Lys378, Lys392, Lys439, posLast=483483, Lys496, posLast=514514, and posLast=535535
  • 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).

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 2
mitochondrion 1

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

Transcripts for CCT5 Gene

Unigene Clusters for CCT5 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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, PaxDb, 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)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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

Primer 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 34 35
  • 99.88 (n)
oppossum
(Monodelphis domestica)
Mammalia CCT5 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCT5 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCT5 34 35
  • 89.53 (n)
cow
(Bos Taurus)
Mammalia CCT5 34 35
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Cct5 34 16 35
  • 87.25 (n)
rat
(Rattus norvegicus)
Mammalia Cct5 34
  • 87.25 (n)
chicken
(Gallus gallus)
Aves CCT5 34 35
  • 80.9 (n)
lizard
(Anolis carolinensis)
Reptilia CCT5 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cct5 34
  • 78 (n)
MGC76252 34
African clawed frog
(Xenopus laevis)
Amphibia cct5-prov 34
zebrafish
(Danio rerio)
Actinopterygii cct5 34 35
  • 76.16 (n)
kifc1 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3460 34
fruit fly
(Drosophila melanogaster)
Insecta Cct5 36 34 35
  • 66.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008249 34
  • 64.75 (n)
worm
(Caenorhabditis elegans)
Secernentea cct-5 36 34 35
  • 63.85 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR418W 34
  • 60.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13882g 34
  • 60.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCT5 34 35 37
  • 60.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G24510 34
  • 65.46 (n)
soybean
(Glycine max)
eudicotyledons Gma.2634 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10411 34
rice
(Oryza sativa)
Liliopsida Os06g0562600 34
  • 65.48 (n)
Os.10453 34
barley
(Hordeum vulgare)
Liliopsida Hv.4118 34
wheat
(Triticum aestivum)
Liliopsida Ta.19112 34
corn
(Zea mays)
Liliopsida Zm.5476 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3810 35
  • 75 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03980 34
  • 65.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cct5 34
  • 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)

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
rs118203986 Pathogenic, Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840] 10,256,063(+) TGAAC(A/G)CCTGG reference, missense
rs114441137 Likely benign 10,265,649(+) GATAC(A/C)CTTTC utr-variant-3-prime
rs11557649 Likely benign 10,258,400(+) GATGC(A/G)AAGAT reference, synonymous-codon
rs11557652 Likely benign 10,256,060(+) TATTG(A/G/T)ACACC reference, missense
rs11956986 Likely benign 10,266,160(+) TGAGT(C/G)TAGCC 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
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)

Relevant External Links for CCT5 Gene

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

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

Disorders for CCT5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CCT5 Gene - From: OMIM, 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
autosomal recessive sensory neuropathy with spastic paraplegia
epididymo-orchitis
neuropathy
  • peripheral neuropathy
hereditary sensory neuropathy
  • congenital insensitivity to pain
- 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 22 64
  2. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S. … Sheffield V.C. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
  3. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro A.P. … Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  4. Genes for hereditary sensory and autonomic neuropathies: a genotype- phenotype correlation. (PMID: 19651702) Rotthier A. … Timmerman V. (Brain 2009) 3 46 64
  5. A genome-wide scan maps a novel high myopia locus to 5p15. (PMID: 18421076) Lam C.Y. … Lam D.S. (Invest. Ophthalmol. Vis. Sci. 2008) 3 46 64

Products for CCT5 Gene

Sources for CCT5 Gene

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