CCT5 (chaperonin containing TCP1 subunit 5)

Gene

• Entrez ID: 22948
• Gene name: Chaperonin containing TCP1 subunit 5
• Gene symbol: CCT5
• Synonyms: CCT-epsilon, CCTE, HEL-S-69, PNAS-102, TCP-1-epsilon
• Chromosome: 5
• Chromosome location: 5p15.2
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203986	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs141675330	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022974	hsa-miR-124-3p	Microarray	18668037
MIRT035787	hsa-miR-1914-5p	CLASH	23622248
MIRT036657	hsa-miR-935	CLASH	23622248
MIRT038196	hsa-miR-151a-5p	CLASH	23622248
MIRT050415	hsa-miR-23a-3p	CLASH	23622248
MIRT538612	hsa-miR-1231	PAR-CLIP	22012620
MIRT538612	hsa-miR-1231	PAR-CLIP	20371350
MIRT538612	hsa-miR-1231	PAR-CLIP	27292025
MIRT538613	hsa-miR-1299	PAR-CLIP	22012620
MIRT538613	hsa-miR-1299	PAR-CLIP	20371350
MIRT538613	hsa-miR-1299	PAR-CLIP	27292025
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT538614	hsa-miR-4795-3p	PAR-CLIP	27292025
MIRT538615	hsa-miR-6128	PAR-CLIP	22012620
MIRT538615	hsa-miR-6128	PAR-CLIP	20371350
MIRT538615	hsa-miR-6128	PAR-CLIP	27292025
MIRT538616	hsa-miR-875-3p	PAR-CLIP	22012620
MIRT538616	hsa-miR-875-3p	PAR-CLIP	20371350
MIRT538616	hsa-miR-875-3p	PAR-CLIP	27292025
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	22012620
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT538617	hsa-miR-6733-3p	PAR-CLIP	27292025
MIRT538618	hsa-miR-139-5p	PAR-CLIP	22012620
MIRT538618	hsa-miR-139-5p	PAR-CLIP	20371350
MIRT538618	hsa-miR-139-5p	PAR-CLIP	27292025
MIRT765009	hsa-miR-3148	PAR-CLIP	27292025
MIRT767917	hsa-miR-409-5p	PAR-CLIP	27292025
MIRT775784	hsa-miR-6124	PAR-CLIP	27292025

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003730	Function	MRNA 3'-UTR binding	IDA	16213212
GO:0005515	Function	Protein binding	IPI	14532270, 16189514, 24375412, 25467444, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005813	Component	Centrosome	IDA	20080638
GO:0005829	Component	Cytosol	TAS
GO:0005832	Component	Chaperonin-containing T-complex	IBA	21873635
GO:0005832	Component	Chaperonin-containing T-complex	IDA	23011926, 30955883
GO:0005832	Component	Chaperonin-containing T-complex	TAS	25467444
GO:0005874	Component	Microtubule	IDA	21525035
GO:0006457	Process	Protein folding	IBA	21873635
GO:0006457	Process	Protein folding	IDA	30955883
GO:0006457	Process	Protein folding	TAS
GO:0007339	Process	Binding of sperm to zona pellucida	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0031681	Function	G-protein beta-subunit binding	IPI	19376773
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	25467444
GO:0044183	Function	Protein folding chaperone	IDA	30955883
GO:0044297	Component	Cell body	IEA
GO:0048027	Function	MRNA 5'-UTR binding	IDA	16213212
GO:0048487	Function	Beta-tubulin binding	IPI	24375412
GO:0050821	Process	Protein stabilization	IMP	25467444
GO:0051082	Function	Unfolded protein binding	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:1901998	Process	Toxin transport	IEA
GO:1904851	Process	Positive regulation of establishment of protein localization to telomere	IMP	25467444
GO:1904871	Process	Positive regulation of protein localization to Cajal body	HMP	25467444
GO:1904874	Process	Positive regulation of telomerase RNA localization to Cajal body	HMP	25467444

Other IDs

• MIM: 610150
• HGNC: 1618
• e!Ensembl: ENSG00000150753

Protein

• UniProt ID: P48643
• Protein name: T-complex protein 1 subunit epsilon (TCP-1-epsilon) (CCT-epsilon)
• Protein 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).
• PDB: 5UYX, 5UYZ, 6NR8, 6NR9, 6NRA, 6NRB, 6NRC, 6NRD, 6QB8, 7LUM, 7LUP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00118	Cpn60_TCP1	44 → 537	TCP-1/cpn60 chaperonin family	Family

• Sequence:

  MASMGTLAFDEYGRPFLIIKDQDRKSRLMGLEALKSHIMAAKAVANTMRTSLGPNGLDKM
  MVDKDGDVTVTNDGATILSMMDVDHQIAKLMVELSKSQDDEIGDGTTGVVVLAGALLEEA
  EQLLDRGIHPIRIADGYEQAARVAIEHLDKISDSVLVDIKDTEPLIQTAKTTLGSKVVNS
  CHRQMAEIAVNAVLTVADMERRDVDFELIKVEGKVGGRLEDTKLIKGVIVDKDFSHPQMP
  KKVEDAKIAILTCPFEPPKPKTKHKLDVTSVEDYKALQKYEKEKFEEMIQQIKETGANLA
  ICQWGFDDEANHLLLQNNLPAVRWVGGPEIELIAIATGGRIVPRFSELTAEKLGFAGLVQ
  EISFGTTKDKMLVIEQCKNSRAVTIFIRGGNKMIIEEAKRSLHDALCVIRNLIRDNRVVY
  GGGAAEISCALAVSQEADKCPTLEQYAMRAFADALEVIPMALSENSGMNPIQTMTEVRAR
  QVKEMNPALGIDCLHKGTNDMKQQHVIETLIGKKQQISLATQMVRMILKIDDIRKPGESE
  E

• Sequence length: 541

Pathways

Reactome:

Association of TriC/CCT with target proteins during biosynthesis
BBSome-mediated cargo-targeting to cilium
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Associated diseases

Disease name	Disease term	References
	Atrophy of the spinal cord
	Malignant neoplasm of breast	17659439
	Mammary Neoplasms, Human	17659439
	Mammary Neoplasms	17659439
	Breast Carcinoma	17659439
	Distal amyotrophy
	Dysautonomia
	Foot osteomyelitis
	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive	16399879, 25124038, 12874111
	Mutilating hereditary sensory neuropathy with spastic paraplegia
	Hypocholesterolemia
	Adenocarcinoma of lung (disorder)	27602772
	Mammary Carcinoma, Human	17659439
	Peripheral axonal neuropathy
	Spastic Paraplegia