1. Gene
  2. CCT5 - chaperonin containing TCP1 subunit 5 Gene

CCT5 - chaperonin containing TCP1 subunit 5 Gene

中文名称:含伴侣蛋白的 TCP1 亚基 5

种属: Homo sapiens

同用名: CCTE; HEL-S-69; PNAS-102; CCT-epsilon; TCP-1-epsilon

基因 ID: 22948 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种分子伴侣,它是含有伴侣蛋白的 TCP1 复合物 (CCT) 的成员,也称为 TCP1 环状复合物 (TRiC) 。该复合物由两个相同的堆叠环组成,每个环包含八种不同的蛋白质。未折叠的多肽进入复合物的中央空腔,并以依赖 ATP 的方式折叠。该复合物折叠各种蛋白质,包括肌动蛋白和微管蛋白。该基因的突变会导致伴有痉挛性截瘫 (HSNSP) 的遗传性感觉和自主神经病变。可变剪接导致多个转录本变体。已在 5 号和 13 号染色体上鉴定出相关的假基因。[RefSeq 提供,2015 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables G-protein beta-subunit binding IPI
IPI: 通过物理相互作用推断
19376773 GOA
enables beta-tubulin binding IPI
IPI: 通过物理相互作用推断
24375412 GOA
enables mRNA 3'-UTR binding IDA
IDA: 通过直接分析推断
16213212 GOA
enables mRNA 5'-UTR binding IDA
IDA: 通过直接分析推断
16213212 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14532270 GOA
enables protein folding chaperone IDA
IDA: 通过直接分析推断
25467444 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chaperone mediated protein folding independent of cofactor IMP
IMP: 通过突变表型推断
25467444 GOA
involved in chaperone-mediated protein folding IDA
IDA: 通过直接分析推断
22133715 GOA
acts upstream of positive regulation of telomere maintenance via telomerase IMP
IMP: 通过突变表型推断
25467444 GOA
involved in protein folding IDA
IDA: 通过直接分析推断
30955883 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
25467444 GOA
involved in response to virus IEP
IEP: 通过表达模式推断
16548883 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
20080638 GOA
part of chaperonin-containing T-complex IDA
IDA: 通过直接分析推断
23011926 GOA
part of chaperonin-containing T-complex IPI
IPI: 通过物理相互作用推断
22133715 GOA
located in microtubule IDA
IDA: 通过直接分析推断
21525035 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CCT5 蛋白结构

Cpn60_TCP1

Cpn60_TCP1: TCP-1/cpn60 chaperonin family (44 - 533)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 541 a.a.
蛋白主名 其他名称

T-complex protein 1 subunit epsilon

chaperonin containing TCP1, subunit 5 (epsilon)

CCT5 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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