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  2. OMA1 - OMA1 zinc metallopeptidase Gene

OMA1 - OMA1 zinc metallopeptidase Gene

中文名称:OMA1 锌金属肽酶

种属: Homo sapiens

同用名: DAB1; MPRP1; MPRP-1; YKR087C; ZMPOMA1; peptidase; 2010001O09Rik

基因 ID: 115209 | 基因类型: protein coding

关于 OMA1

Cytogenetic location: 1p32.2-p32.1 Genomic coordinates (GRCh38): 1:58,480,719-58,546,726 (from NCBI)

This gene has 11 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in kidney (RPKM 9.7), prostate (RPKM 9.5) and 25 other tissues.

功能概要

启用金属内肽酶活性。参与多个过程,包括 HRI 介导的信号;蛋白水解;和线粒体组织的调节。位于线粒体内膜。 [由基因组资源联盟提供,2022 年 4 月]

Enables metalloendopeptidase activity. Involved in several processes, including HRI-mediated signaling; proteolysis; and regulation of mitochondrion organization. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]

OMA1 基因产物(1)

mRNA Protein Name
NM_145243.5 NP_660286.1 metalloendopeptidase OMA1, 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 metalloendopeptidase activity IDA
IDA: 通过直接分析推断
25275009 GOA
enables metalloendopeptidase activity IMP
IMP: 通过突变表型推断
20038677 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in HRI-mediated signaling IDA
IDA: 通过直接分析推断
32132706 GOA
involved in cellular response to stress IDA
IDA: 通过直接分析推断
32132706 GOA
involved in integrated stress response signaling IDA
IDA: 通过直接分析推断
32132706 GOA
involved in mitochondrial protein processing IDA
IDA: 通过直接分析推断
25275009 GOA
involved in mitochondrial protein processing IMP
IMP: 通过突变表型推断
25605331 GOA
involved in negative regulation of mitochondrial fusion IMP
IMP: 通过突变表型推断
20038677 GOA
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
25275009 GOA
involved in protein quality control for misfolded or incompletely synthesized proteins IMP
IMP: 通过突变表型推断
20038677 GOA
involved in regulation of cristae formation IDA
IDA: 通过直接分析推断
25275009 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
32132707 GOA
is active in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
32132706 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
20038677 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

OMA1 蛋白结构

Peptidase_M48

Peptidase_M48: Peptidase family M48 (284 - 447)

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

metalloendopeptidase OMA1, mitochondrial

OMA1 homolog, zinc metallopeptidase

重组 OMA1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72010 OMA1 Protein, Human (Cell-Free, His-SUMO) Q96E52-1 (H14-S524) ≥95%

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28

SCA28

Ataxia, Spinocerebellar, Type 28

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Behr Syndrome

BEHRS

Abortive Cerebellar Ataxia

Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities

Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of

Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss

Obsolete: Behr Syndrome

Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss

Infantile Hereditary Optic Atrophy With Neurologic Abnormalities

Optic Atrophy 7 With Or Without Auditory Neuropathy

Optic Atrophy 7

OPA7

Autosomal Recessive Optic Atrophy, Opa7 Type

Optic Atrophy-7

Atrophy, Optic, Type 7, With/Without Auditory Neuropathy

Combined Oxidative Phosphorylation Deficiency 33

COXPD33

Optic Atrophy 11

OPA11

Atrophy, Optic, Type 11

Optic Nerve Disease

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve

Spastic Ataxia

Spax

Ataxia, Spastic

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

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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
Rattus norvegicus OMA1 RGD RGD:1304821
Bos taurus OMA1 VGNC VGNC:32428
Macaca mulatta OMA1 VGNC VGNC:75485
Canis familiaris OMA1 VGNC VGNC:44121
Mus musculus OMA1 MGD MGI:1914263
Felis catus OMA1 VGNC VGNC:63967
Others OMA1 NCBI