CCT5 - chaperonin containing TCP1 subunit 5 Gene

Also Known as CCTE; HEL-S-69; PNAS-102; CCT-epsilon; TCP-1-epsilon

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22948

About CCT5

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:10,249,921-10,266,412 (from NCBI)

This gene has 15 transcripts (splice variants), 221 orthologues, 13 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 38.0), appendix (RPKM 31.8) and 25 other tissues.

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]

CCT5 Products (5)

mRNA	Protein	Name
NM_001306153.1	NP_001293082.1	T-complex protein 1 subunit epsilon isoform b
NM_001306154.2	NP_001293083.1	T-complex protein 1 subunit epsilon isoform c
NM_001306155.2	NP_001293084.1	T-complex protein 1 subunit epsilon isoform d
NM_001306156.2	NP_001293085.1	T-complex protein 1 subunit epsilon isoform e
NM_012073.5	NP_036205.1	T-complex protein 1 subunit epsilon isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables G-protein beta-subunit binding	IPI IPI: Inferred from physical interaction	19376773	GOA
enables beta-tubulin binding	IPI IPI: Inferred from physical interaction	24375412	GOA
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	16213212	GOA
enables mRNA 5'-UTR binding	IDA IDA: Inferred from direct assay	16213212	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14532270	GOA
enables protein folding chaperone	IDA IDA: Inferred from direct assay	25467444	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chaperone mediated protein folding independent of cofactor	IMP IMP: Inferred from mutant phenotype	25467444	GOA
involved in chaperone-mediated protein folding	IDA IDA: Inferred from direct assay	22133715	GOA
acts upstream of positive regulation of telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	25467444	GOA
involved in protein folding	IDA IDA: Inferred from direct assay	30955883	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	25467444	GOA
involved in response to virus	IEP IEP: Inferred from expression pattern	16548883	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	20080638	GOA
part of chaperonin-containing T-complex	IDA IDA: Inferred from direct assay	23011926	GOA
part of chaperonin-containing T-complex	IPI IPI: Inferred from physical interaction	22133715	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCT5 Protein Structure

Cpn60_TCP1

0
100
200
300
400
500
541 a.a.

Protein Preferred Names	Protein Names
T-complex protein 1 subunit epsilon	chaperonin containing TCP1, subunit 5 (epsilon)

CCT5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCT5	P48643	CCT2	Homo sapiens	P78371	Anti Tag CoIP	33961781
Intra	CCT5	P48643	CCT2	Homo sapiens	P78371	Crosslink	30021884
Intra	CCT5	P48643	CCT2	Homo sapiens	P78371	Anti Tag CoIP	35271311
Intra	CCT5	P48643	TP53	Homo sapiens	P04637	Y2H Pooling	16169070
Intra	CCT5	P48643	ZNRD2	Homo sapiens	O60232	Anti Tag CoIP	35271311
Intra	CCT5	P48643	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	CCT5	P48643	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	CCT5	P48643	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	CCT5	P48643	BECN1	Homo sapiens	Q14457	Validated Y2H	32814053
Intra	CCT5	P48643	BECN1	Homo sapiens	Q14457	Y2H Array	32814053
Intra	CCT5	P48643	BECN1	Homo sapiens	Q14457	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Neuropathy, Hereditary Sensory, With Spastic Paraplegia Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia Mutilating Hsan With Spastic Paraplegia HSNSP Neuropathy, Sensory, With Spastic Paraplegia, Hereditary, Autosomal Recessive
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Intellectual Developmental Disorder, Autosomal Dominant 48	Mental Retardation, Autosomal Dominant 48 MRD48 Autosomal Dominant Mental Retardation 48 Autosomal Dominant Intellectual Developmental Disorder 48
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	MRD44 Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome Autosomal Dominant Non-Syndromic Intellectual Disability 44 Mental Retardation, Autosomal Dominant 44 Autosomal Dominant Intellectual Developmental Disorder 44 Autosomal Dominant Intellectual Developmental Disorder 44 With Microcephaly Autosomal Dominant Mental Retardation 44 Mental Retardation, Autosomal Dominant, Type 44
Autonomic Neuropathy	Diabetic Autonomic Neuropathy
Axonal Neuropathy
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	HSAN2B Hereditary Sensory And Autonomic Neuropathy Type 2b Hereditary Sensory And Autonomic Neuropathy Type Iib Neuropathy, Hereditary Sensory And Autonomic, Type 2b Neuropathy, Hereditary Sensory And Autonomic, 2b Neuropathy, Sensory And Autonomic, Hereditary, Type Iib
Ethmoid Sinus Adenocarcinoma	Adenocarcinoma Of Ethmoid Sinus Adenocarcinoma Of The Ethmoid Sinus
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spoan Syndrome SPOAN Spastic Paraplegia, Optic Atropy, And Neuropathy Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Leukodystrophy, Hypomyelinating, 4	Mitochondrial Hsp60 Chaperonopathy Hypomyelinating Leukodystrophy 4 HLD4 Mitchap60 Disease Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation Mitchap-60 Disease Leukodystrophy, Hypomyelinating, Type 4
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Sensory Peripheral Neuropathy	Sensory Neuropathy Peripheral Sensory Neuropathy Hereditary Sensory And Autonomic Neuropathies
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13685	Miltefosine	Inhibitor	99.92%	Yes

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13685S1	Miltefosine-d4	Inhibitor	/	Unkown
HY-RS02182	CCT5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CCT5	VGNC	VGNC:26998
Rattus norvegicus	CCT5	RGD	RGD:735161
Macaca mulatta	CCT5	VGNC	VGNC:84287
Canis familiaris	CCT5	VGNC	VGNC:38925
Mus musculus	CCT5	MGD	MGI:107185
Felis catus	CCT5	VGNC	VGNC:60579
Others	CCT5	NCBI