2. Gene
  3. PITRM1 - pitrilysin metallopeptidase 1 Gene

PITRM1 - pitrilysin metallopeptidase 1 Gene

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

中文名称：pitrilysin 金属肽酶 1

种属: Homo sapiens

同用名: MP1; PreP; SCAR30

基因 ID: 10531 | 基因类型: protein coding

关于 PITRM1

Cytogenetic location: 10p15.2 Genomic coordinates (GRCh38): 10:3,137,727-3,172,841 (from NCBI)

This gene has 40 transcripts (splice variants), 233 orthologues, 6 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 24.8), adrenal (RPKM 18.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种 ATP 依赖性金属蛋白酶，可降解切割后的线粒体转运肽。编码的蛋白质结合锌，还可以降解淀粉样蛋白 β A4 蛋白，这表明它可能在阿尔茨海默病中发挥作用。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]

PITRM1 基因产物(9)

mRNA Protein Name
NM_001242307.2 NP_001229236.1 presequence protease, mitochondrial isoform 1 precursor
NM_001242309.1 NP_001229238.1 presequence protease, mitochondrial isoform 3
NM_001347725.2 NP_001334654.1 presequence protease, mitochondrial isoform 4 precursor
NM_001347726.2 NP_001334655.1 presequence protease, mitochondrial isoform 5
NM_001347727.2 NP_001334656.1 presequence protease, mitochondrial isoform 6
NM_001347728.2 NP_001334657.1 presequence protease, mitochondrial isoform 7
NM_001347729.1 NP_001334658.1 presequence protease, mitochondrial isoform 8
NM_001347730.1 NP_001334659.1 presequence protease, mitochondrial isoform 9
NM_014889.4 NP_055704.2 presequence protease, mitochondrial isoform 2 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
10360838 GOA
enables metalloendopeptidase activity IMP
IMP: 通过突变表型推断
16849325 GOA
enables metallopeptidase activity EXP
EXP: 通过实验结果推断
19962426 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24931469 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
24931469 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteolysis IDA
IDA: 通过直接分析推断
10360838 GOA
involved in proteolysis IMP
IMP: 通过突变表型推断
16849325 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
16849325 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

PITRM1 蛋白结构

Peptidase_M16

Peptidase_M16: Insulinase (Peptidase family M16) (96 - 177)

Peptidase_M16_C

Peptidase_M16_C: Peptidase M16 inactive domain (245 - 428)

M16C_assoc

M16C_assoc: Peptidase M16C associated (504 - 752)

Peptidase_M16_C

Peptidase_M16_C: Peptidase M16 inactive domain (772 - 956)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1037 a.a.
蛋白主名 其他名称

presequence protease, mitochondrial

PreP peptidasome

关联疾病

疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive 30

SCAR30

Spinocerebellar Ataxia, Autosomal Recessive, 30
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
Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8
Conduct Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2ee

CMT2EE

Charcot-Marie-Tooth Neuropathy, Type 2ee

Charcot-Marie-Tooth Disease Type 2ee

Charcot-Marie-Tooth Disease, Axonal, 2ee
Berylliosis

Beryllium Poisoning

Beryllium Disease

Lung Fibrosis With Berylliosis
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

Fatal Infantile Cox Deficiency

Fatal Infantile Cytochrome C Oxidase Deficiency

Fatal Infantile Encephalocardiomyopathy
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-RS10580 PITRM1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PITRM1 VGNC VGNC:44588
Rattus norvegicus PITRM1 RGD RGD:1310998
Macaca mulatta PITRM1 VGNC VGNC:75819
Bos taurus PITRM1 VGNC VGNC:32923
Mus musculus PITRM1 MGD MGI:1916867
Felis catus PITRM1 VGNC VGNC:64190
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