CCT5 - chaperonin containing TCP1 subunit 5 Gene

Homo sapiens

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

Gene ID: 22948 | Gene type: protein coding

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

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)

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13685	Miltefosine	Inhibitor	≥98.0%	Yes

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02182	CCT5 Human Pre-designed siRNA Set A		/	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

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