• Gene id: 115209

Gene Summary

• Gene Symbol: OMA1   Gene   UCSC   Ensembl
• Aliases: 2010001O09Rik, DAB1, MPRP-1, MPRP1, YKR087C, ZMPOMA1, peptidase
• Gene name: OMA1 zinc metallopeptidase
• Alternate names: metalloendopeptidase OMA1, mitochondrial, OMA1 homolog, zinc metallopeptidase, OMA1 zinc metallopeptidase homolog, metalloprotease-related protein 1, overlapping activity with M-AAA protease, overlapping with the m-AAA protease 1 homolog, zinc metallopeptidase ,
• Gene location: 1p32.2-p32.1 (75902451: 75859866)     Exons: 17     NC_000004.12
• OMIM: 617081

Protein Summary

• Protein general information: Q96E52  
  • Name: Metalloendopeptidase OMA1, mitochondrial (EC 3.4.24. ) (Metalloprotease related protein 1) (MPRP 1) (Overlapping with the m AAA protease 1 homolog)
  • Length: 524  
  • Mass: 60120
  • Tissue specificity: Widely expressed, with strong expression in the heart, skeletal muscle, kidney and liver. {ECO
• Sequence:

  MSFICGLQSAARNHVFFRFNSLSNWRKCNTLASTSRGCHQVQVNHIVNKYQGLGVNQCDRWSFLPGNFHFYSTFN
  NKRTGGLSSTKSKEIWRITSKCTVWNDAFSRQLLIKEVTAVPSLSVLHPLSPASIRAIRNFHTSPRFQAAPVPLL
  LMILKPVQKLFAIIVGRGIRKWWQALPPNKKEVVKENIRKNKWKLFLGLSSFGLLFVVFYFTHLEVSPITGRSKL
  LLLGKEQFRLLSELEYEAWMEEFKNDMLTEKDARYLAVKEVLCHLIECNKDVPGISQINWVIHVVDSPIINAFVL
  PNGQMFVFTGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDFLGMIFLTMIWAICPRDSLALLCQWIQ
  SKLQEYMFNRPYSRKLEAEADKIGLLLAAKACADIRASSVFWQQMEFVDSLHGQPKMPEWLSTHPSHGNRVEYLD
  RLIPQALKIREMCNCPPLSNPDPRLLFKLSTKHFLEESEKEDLNITKKQKMDTLPIQKQEQIPLTYIVEKRTGS

• Structural information:
  • Interpro: IPR001915  
  • Prosite: PS00142
  • STRING: ENSP00000360270
• Other Databases: GeneCards:  OMA1  Malacards:  OMA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0034982	mitochondrial protein processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0042407	cristae formation	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0034982	mitochondrial protein processing	IDA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:1903850	regulation of cristae formation	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0006006	glucose metabolic process	ISS	biological process
GO:0002024	diet induced thermogenesis	ISS	biological process
GO:0033108	mitochondrial respiratory chain complex assembly	ISS	biological process
GO:0016540	protein autoprocessing	ISS	biological process
GO:0034982	mitochondrial protein processing	IMP	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0010637	negative regulation of mitochondrial fusion	ISS	biological process
GO:0006629	lipid metabolic process	ISS	biological process
GO:0031638	zymogen activation	ISS	biological process
GO:0010637	negative regulation of mitochondrial fusion	IMP	biological process
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	IMP	biological process
GO:0004222	metalloendopeptidase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)