Gene Gene information from NCBI Gene database.
Entrez ID 115209
Gene name OMA1 zinc metallopeptidase
Gene symbol OMA1
Synonyms (NCBI Gene)
2010001O09RikDAB1MPRP-1MPRP1YKR087CZMPOMA1peptidase
Chromosome 1
Chromosome location 1p32.2-p32.1
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617081 29661 ENSG00000162600
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
EFVDSLHGQPKMPEWLSTHPSHGNRVEYLDRLI
PQALKIREMCNCPPLSNPDPRLLFKLS
TKHFLEESEKEDLNITKKQKMDTLPIQKQEQIPLTYIVEKRTGS
Sequence length 524
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spinocerebellar ataxia   Regulation of Apoptosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs77980955, rs150425165 RCV005904517
RCV005910281
Cervical cancer Benign; Likely benign rs75129043, rs77980955, rs150425165 RCV005907883
RCV005904520
RCV005910284
Clear cell carcinoma of kidney Benign; Likely benign rs75129043, rs77980955 RCV005907884
RCV005904521
Colon adenocarcinoma Benign; Likely benign rs75129043, rs77980955 RCV005907880
RCV005904516
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31611601, 34414449
Cardiotoxicity Associate 34672515
Disease Resistance Stimulate 15460906
Glioma Associate 40466765
Heart Failure Associate 34672515
Hypoxia Associate 37559135
Lymphoma B Cell Associate 37643767
Lymphoma Non Hodgkin Associate 40466765
Malformations of Cortical Development Group I Associate 25112877
Mitochondrial Diseases Associate 25112877, 32132707, 33562813, 40466765