1. Gene
  2. CLPP - caseinolytic mitochondrial matrix peptidase proteolytic subunit Gene

CLPP - caseinolytic mitochondrial matrix peptidase proteolytic subunit Gene

中文名称:酪蛋白水解线粒体基质肽酶蛋白水解亚基

种属: Homo sapiens

同用名: DFNB81; PRLTS3

基因 ID: 8192 | 基因类型: protein coding

关于 CLPP

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,361,531-6,370,242 (from NCBI)

This gene has 7 transcripts (splice variants), 196 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 19.9), fat (RPKM 18.0) and 25 other tissues.

功能概要

该基因编码的蛋白质属于肽酶家族 S14,在存在 ATP 和镁的情况下将蛋白质水解成小肽。该蛋白质被转运到线粒体基质中并与线粒体内膜结合。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small Peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

CLPP 基因产物(1)

mRNA Protein Name
NM_006012.4 NP_006003.1 ATP-dependent Clp protease proteolytic subunit, mitochondrial precursor
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 endopeptidase activity IDA
IDA: 通过直接分析推断
22354088 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11923310 GOA
enables serine-type endopeptidase activity IDA
IDA: 通过直接分析推断
11923310 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in membrane protein proteolysis IDA
IDA: 通过直接分析推断
22354088 GOA
involved in proteolysis IDA
IDA: 通过直接分析推断
15522782 GOA
involved in proteolysis involved in protein catabolic process IDA
IDA: 通过直接分析推断
11923310 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of endopeptidase Clp complex IDA
IDA: 通过直接分析推断
11923310 GOA
part of endopeptidase Clp complex IPI
IPI: 通过物理相互作用推断
15522782 GOA
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
10525407 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
22354088 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

CLPP 蛋白结构

CLP_protease

CLP_protease: Clp protease (68 - 246)

  • 0
  • 100
  • 200
  • 277 a.a.
蛋白主名 其他名称

ATP-dependent Clp protease proteolytic subunit, mitochondrial

ATP-dependent protease ClpAP, proteolytic subunit, human

CLPP 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 CLPP Q16740 P4HA3 Homo sapiens Q7Z4N8
Validated Y2H
32296183
Intra CLPP Q16740 TNPO3 Homo sapiens Q9Y5L0
Validated Y2H
32296183
Intra CLPP Q16740 ABI2 Homo sapiens Q9NYB9-2
Validated Y2H
32296183
Intra CLPP Q16740 C14orf119 Homo sapiens Q9NWQ9
Validated Y2H
32296183
Intra CLPP Q16740 RBPMS Homo sapiens Q93062-3
Validated Y2H
32296183
Intra CLPP Q16740 DTX2 Homo sapiens Q86UW9
Validated Y2H
32296183
Intra CLPP Q16740 PLSCR4 Homo sapiens Q9NRQ2
Validated Y2H
32296183
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
Perrault Syndrome 3

PRLTS3

Deafness, Autosomal Recessive 81, Formerly

Dfnb81, Formerly

Perrault Syndrome, Type 3

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Codas Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome

Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome

Cerebrooculodentoauriculoskeletal Syndrome

CODASS

Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome

Acute Laryngopharyngitis

Pharyngolaryngitis

Laryngopharyngitis

Hypopharyngitis

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Retinitis Pigmentosa 36

RP36

Retinitis Pigmentosa-36

Retinitis Pigmentosa, Type 36

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

Pyosalpinx

Pyosalpingitis

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome

Deafness-Hermann Type Symphalangism Syndrome

Facio-Audio-Symphalangism

Hearing Loss-Hermann Type Symphalangism Syndrome

Wl Syndrome

Multiple Synostosis Syndrome

Myasthenic Syndrome, Congenital, 12

Congenital Myasthenic Syndrome 12

CMS12

Myasthenic Syndrome, Congenital, With Tubular Aggregates 1

Cmsta1

Myasthenia, Congenital, 12, With Tubular Aggregates

Congenital Myasthenia 12 With Tubular Aggregates

Limb-Girdle Myasthenia With Tubular Aggregates

Myasthenia, Congenital, With Tubular Aggregates 1

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian

Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities

MRD30

Mental Retardation, Autosomal Dominant 30

Intellectual Developmental Disorder, Autosomal Dominant 30

Autosomal Dominant Non-Syndromic Intellectual Disability 30

Autosomal Dominant Intellectual Developmental Disorder 30

Autosomal Dominant Mental Retardation 30

Mental Retardation, Autosomal Dominant, Type 30

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome

Infantile Onset Spinocerebellar Ataxia

Iosca

Infantile-Onset Spinocerebellar Ataxia

Spinocerebellar Ataxia 8

MTDPS7

Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis

Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

Sca8

Spinocerebellar Ataxia Infantile With Sensory Neuropathy

Spinocerebellar Ataxia, Infantile-Onset

Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis

Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy

Spinocerebellar Ataxia 8, Formerly

Sca8, Formerly

Iosca, Mitochondrial Dna Depletion Syndrome 7

Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis

Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Mtdna Depletion Syndrome, Hepatocerebrorenal Form

Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis

Pure Spinocerebellar Ataxia Japanese Type

Sca4 Pure Japanese Type

Spinocerebellar Ataxia Infantile-Onset

Mitochondrial Dna Depletion Syndrome , Type 7

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

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
Canis familiaris CLPP VGNC VGNC:39356
Felis catus CLPP VGNC VGNC:60973
Bos taurus CLPP VGNC VGNC:27459
Macaca mulatta CLPP VGNC VGNC:71263
Mus musculus CLPP MGD MGI:1858213
Rattus norvegicus CLPP RGD RGD:1588583