Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
115209
Gene name Gene Name - the full gene name approved by the HGNC.
OMA1 zinc metallopeptidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OMA1
Synonyms (NCBI Gene) Gene synonyms aliases
2010001O09Rik, DAB1, MPRP-1, MPRP1, YKR087C, ZMPOMA1, peptidase
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.2-p32.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002024 Process Diet induced thermogenesis ISS
GO:0004222 Function Metalloendopeptidase activity IDA 25275009, 32132706, 32132707
GO:0004222 Function Metalloendopeptidase activity IMP 20038677
GO:0004222 Function Metalloendopeptidase activity TAS
GO:0005743 Component Mitochondrial inner membrane IDA 32132707
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617081 29661 ENSG00000162600
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Unknown
Disease term Disease name Evidence References Source
Restless Legs Syndrome Restless Legs Syndrome GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
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