Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	115209
Gene name	OMA1 zinc metallopeptidase
Gene symbol	OMA1
Synonyms (NCBI Gene)	2010001O09RikDAB1MPRP-1MPRP1YKR087CZMPOMA1peptidase
Chromosome	1
Chromosome location	1p32.2-p32.1

Show/Hide all (99)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000884	hsa-miR-15a-5p	Microarray	18362358
MIRT000883	hsa-miR-16-5p	Microarray	18362358
MIRT021287	hsa-miR-125a-5p	Sequencing	20371350
MIRT025592	hsa-miR-10a-5p	Sequencing	20371350
MIRT645820	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT645819	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT645818	hsa-miR-33b-3p	HITS-CLIP	23824327
MIRT645817	hsa-miR-515-3p	HITS-CLIP	23824327
MIRT645816	hsa-miR-519e-3p	HITS-CLIP	23824327
MIRT645815	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT645814	hsa-miR-3126-5p	HITS-CLIP	23824327
MIRT645813	hsa-miR-6875-5p	HITS-CLIP	23824327
MIRT645812	hsa-miR-4419a	HITS-CLIP	23824327
MIRT645811	hsa-miR-4510	HITS-CLIP	23824327
MIRT645810	hsa-miR-6127	HITS-CLIP	23824327
MIRT645809	hsa-miR-6129	HITS-CLIP	23824327
MIRT645808	hsa-miR-6130	HITS-CLIP	23824327
MIRT645807	hsa-miR-6133	HITS-CLIP	23824327
MIRT645806	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT645805	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT645804	hsa-miR-4312	HITS-CLIP	23824327
MIRT645803	hsa-miR-6834-5p	HITS-CLIP	23824327
MIRT645802	hsa-miR-1226-5p	HITS-CLIP	23824327
MIRT645801	hsa-miR-6734-5p	HITS-CLIP	23824327
MIRT645800	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT645799	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT645798	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT645797	hsa-miR-8055	HITS-CLIP	23824327
MIRT619090	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT619089	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT619088	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT619087	hsa-miR-4427	HITS-CLIP	23824327
MIRT619086	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT619085	hsa-miR-5096	HITS-CLIP	23824327
MIRT619084	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT619090	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT619089	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT619088	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT619087	hsa-miR-4427	HITS-CLIP	23824327
MIRT619086	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT619085	hsa-miR-5096	HITS-CLIP	23824327
MIRT619084	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT619090	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT619089	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT619088	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT619087	hsa-miR-4427	HITS-CLIP	23824327
MIRT619086	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT619085	hsa-miR-5096	HITS-CLIP	23824327
MIRT619084	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT645820	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT645819	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT645818	hsa-miR-33b-3p	HITS-CLIP	23824327
MIRT645817	hsa-miR-515-3p	HITS-CLIP	23824327
MIRT645816	hsa-miR-519e-3p	HITS-CLIP	23824327
MIRT645815	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT645814	hsa-miR-3126-5p	HITS-CLIP	23824327
MIRT645813	hsa-miR-6875-5p	HITS-CLIP	23824327
MIRT645812	hsa-miR-4419a	HITS-CLIP	23824327
MIRT645811	hsa-miR-4510	HITS-CLIP	23824327
MIRT645810	hsa-miR-6127	HITS-CLIP	23824327
MIRT645809	hsa-miR-6129	HITS-CLIP	23824327
MIRT645808	hsa-miR-6130	HITS-CLIP	23824327
MIRT645807	hsa-miR-6133	HITS-CLIP	23824327
MIRT645806	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT645805	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT645804	hsa-miR-4312	HITS-CLIP	23824327
MIRT645803	hsa-miR-6834-5p	HITS-CLIP	23824327
MIRT645802	hsa-miR-1226-5p	HITS-CLIP	23824327
MIRT645801	hsa-miR-6734-5p	HITS-CLIP	23824327
MIRT645800	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT645799	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT645798	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT645797	hsa-miR-8055	HITS-CLIP	23824327
MIRT619090	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT619089	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT619088	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT619087	hsa-miR-4427	HITS-CLIP	23824327
MIRT619086	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT619085	hsa-miR-5096	HITS-CLIP	23824327
MIRT619084	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT619090	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT619089	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT619088	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT619087	hsa-miR-4427	HITS-CLIP	23824327
MIRT619086	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT619085	hsa-miR-5096	HITS-CLIP	23824327
MIRT619084	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT619090	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT619089	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT619088	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT619087	hsa-miR-4427	HITS-CLIP	23824327
MIRT619086	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT619085	hsa-miR-5096	HITS-CLIP	23824327
MIRT619084	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT2286893	hsa-miR-1288	CLIP-seq
MIRT2286894	hsa-miR-3161	CLIP-seq
MIRT2286895	hsa-miR-3169	CLIP-seq
MIRT2286896	hsa-miR-4772-3p	CLIP-seq
MIRT2286897	hsa-miR-543	CLIP-seq

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000423	Process	Mitophagy	IDA	38340717
GO:0002024	Process	Diet induced thermogenesis	IEA
GO:0002024	Process	Diet induced thermogenesis	ISS
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	25275009, 32132706, 32132707
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IMP	20038677
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	32132707
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	32132706, 32132707
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	ISS
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006508	Process	Proteolysis	IEA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IBA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IMP	20038677
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	ISS
GO:0007005	Process	Mitochondrion organization	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0010637	Process	Negative regulation of mitochondrial fusion	IEA
GO:0010637	Process	Negative regulation of mitochondrial fusion	IMP	20038677
GO:0010637	Process	Negative regulation of mitochondrial fusion	ISS
GO:0016020	Component	Membrane	IEA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016540	Process	Protein autoprocessing	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0031638	Process	Zymogen activation	IEA
GO:0031638	Process	Zymogen activation	ISS
GO:0031966	Component	Mitochondrial membrane	IDA	20038677
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	IEA
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	ISS
GO:0033554	Process	Cellular response to stress	IDA	32132706, 32132707, 38340717
GO:0033554	Process	Cellular response to stress	IDA	32132706, 32132707
GO:0034982	Process	Mitochondrial protein processing	IBA
GO:0034982	Process	Mitochondrial protein processing	IDA	25275009
GO:0034982	Process	Mitochondrial protein processing	IEA
GO:0034982	Process	Mitochondrial protein processing	IMP	25605331
GO:0042407	Process	Cristae formation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	25275009
GO:0046872	Function	Metal ion binding	IEA
GO:0070585	Process	Protein localization to mitochondrion	IDA	38340717
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	22433842
GO:0140467	Process	Integrated stress response signaling	IDA	32132706, 32132707
GO:0140468	Process	HRI-mediated signaling	IDA	38340717
GO:0140468	Process	HRI-mediated signaling	IDA	32132706, 32132707
GO:1901526	Process	Positive regulation of mitophagy	IDA	38340717
GO:1903850	Process	Regulation of cristae formation	IDA	25275009

MIM	HGNC	e!Ensembl
617081	29661	ENSG00000162600

Q96E52

Protein name

Metalloendopeptidase OMA1, mitochondrial (EC 3.4.24.-) (Metalloprotease-related protein 1) (MPRP-1) (Overlapping with the m-AAA protease 1 homolog)

Protein function

Metalloprotease that is part of the quality control system in the inner membrane of mitochondria (PubMed:20038677, PubMed:25605331, PubMed:32132706, PubMed:32132707). Activated in response to various mitochondrial stress, leading to the proteoly

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01435	Peptidase_M48	258 → 453	Peptidase family M48	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with strong expression in the heart, skeletal muscle, kidney and liver. {ECO:0000269|PubMed:12886954}.

Sequence

MSFICGLQSAARNHVFFRFNSLSNWRKCNTLASTSRGCHQVQVNHIVNKYQGLGVNQCDR
WSFLPGNFHFYSTFNNKRTGGLSSTKSKEIWRITSKCTVWNDAFSRQLLIKEVTAVPSLS
VLHPLSPASIRAIRNFHTSPRFQAAPVPLLLMILKPVQKLFAIIVGRGIRKWWQALPPNK
KEVVKENIRKNKWKLFLGLSSFGLLFVVFYFTHLEVSPITGRSKLLLLGKEQFRLLSELE
YEAWMEEFKNDMLTEKDARYLAVKEVLCHLIECNKDVPGISQINWVIHVVDSPIINAFVL
PNGQMFVFTGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDFLGMIFLTMIWA
ICPRDSLALLCQWIQSKLQEYMFNRPYSRKLEAEADKIGLLLAAKACADIRASSVFWQQM
EFVDSLHGQPKMPEWLSTHPSHGNRVEYLDRLIPQALKIREMCNCPPLSNPDPRLLFKLS
TKHFLEESEKEDLNITKKQKMDTLPIQKQEQIPLTYIVEKRTGS

Sequence length

524

Interactions

View interactions

	KEGG		Reactome
	Spinocerebellar ataxia		Regulation of Apoptosis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	BEFREE	15820235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	23996928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31611601		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31611601, 34414449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29748581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	15820235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29593106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	12454025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	23996928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40466765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29593106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34672515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37559135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15820235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31130024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31611601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20302518, 30714136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31611601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25112877, 32132707, 33562813, 40466765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29748581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22025554, 30714136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	28174208, 28228254, 29688805, 29748581, 29961397, 31130024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36782343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	25112877, 37643767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	BEFREE	30910913		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 37	Spinocerebellar Ataxia	BEFREE	30588707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	30733118		★★★★★ ★☆☆☆☆ Found in Text Mining only

OMA1 (OMA1 zinc metallopeptidase)