2. Gene
  3. PMPCB - peptidase, mitochondrial processing subunit beta Gene

PMPCB - peptidase, mitochondrial processing subunit beta Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肽酶，线粒体加工亚基β

种属: Homo sapiens

同用名: MAS1; MPPB; P-52; MPP11; MPPP52; Beta-MPP

基因 ID: 9512 | 基因类型: protein coding

关于 PMPCB

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:103,297,435-103,347,542 (from NCBI)

This gene has 8 transcripts (splice variants), 215 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 16.7), kidney (RPKM 15.9) and 25 other tissues.

功能概要

该基因是肽酶 M16 家族的成员，编码具有锌结合基序的蛋白质。这种蛋白质位于线粒体基质中，催化新导入线粒体的前体蛋白质前导肽的裂解，尽管它仅作为异二聚体复合物的一部分发挥作用。[RefSeq 提供，2008 年 7 月]

This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]

PMPCB 基因产物(1)

mRNA Protein Name
NM_004279.3 NP_004270.2 mitochondrial-processing peptidase subunit beta 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 metalloendopeptidase activity IDA
IDA: 通过直接分析推断
22354088 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein processing involved in protein targeting to mitochondrion IDA
IDA: 通过直接分析推断
22354088 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
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

PMPCB 蛋白结构

Peptidase_M16

Peptidase_M16: Insulinase (Peptidase family M16) (68 - 214)

Peptidase_M16_C

Peptidase_M16_C: Peptidase M16 inactive domain (220 - 404)

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

mitochondrial-processing peptidase subunit beta

mitochondrial processing peptidase beta subunit

关联疾病

疾病名称 别名
Multiple Mitochondrial Dysfunctions Syndrome 6

MMDS6

Multiple Mitochondrial Dysfunctions Syndrome Type 6

Pmpcb Deficiency
Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunction Syndrome

Mmds

Multiple Mitochondrial Dysfunction Syndrome

Mitochondrial Dysfunctions, Multiple, Syndrome

Multiple Mitochondrial Dysfunctions Syndrome 1
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 11

CMS11

Cms Ie

Cms1e

Myasthenic Syndrome, Congenital, Ie

Myasthenic Syndrome, Congenital, Ie, Formerly

Cms1e, Formerly

Cms Ie, Formerly

Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 1e

Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency
Ciliary Dyskinesia, Primary, 27

Primary Ciliary Dyskinesia 27

CILD27

Ciliary Dyskinesia, Primary, 27, Without Situs Inversus

Primary Ciliary Dyskinesia 27 Without Situs Inversus

Primary Ciliary Dyskinesia 27 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, 27
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

SMDMDM

Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type

Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type

Chondrodysplasia, Megarbane-Dagher-Melki Type

Megarbane-Dagher-Melike Type Chondrodysplasia

Chondrodysplasia, Megarbane-Dagher-Melike Type

Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
Atrial Septal Defect 6

ASD6

Atrial Heart Septal Defect 6

Septal Defect, Atrial, Type 6
Cardiomyopathy, Familial Hypertrophic, 26

Hypertrophic Cardiomyopathy 26

CMH26

Cardiomyopathy, Familial Restrictive 5

Cardiomyopathy, Familial Restrictive, 5

Cardiomyopathy Familial Hypertrophic 26

Cardiomyopathy, Familial Hypertrophic 26

RCM5
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
Space Motion Sickness
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
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10771 PMPCB Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PMPCB VGNC VGNC:76195
Rattus norvegicus PMPCB RGD RGD:621297
Bos taurus PMPCB VGNC VGNC:33076
Canis familiaris PMPCB VGNC VGNC:44737
Mus musculus PMPCB MGD MGI:1920328
Felis catus PMPCB VGNC VGNC:68923
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