Aliases for OMA1 Gene

Aliases for OMA1 Gene

  • OMA1 Zinc Metallopeptidase 2 3 5
  • MPRP-1 2 3 4
  • Overlapping With The M-AAA Protease 1 Homolog 3 4
  • Overlapping Activity With M-AAA Protease 2 3
  • Metalloendopeptidase OMA1, Mitochondrial 3 4
  • Metalloprotease-Related Protein 1 3 4
  • Zinc Metallopeptidase OMA1 2 3
  • YKR087C 2 3
  • ZMPOMA1 2 3
  • MPRP1 3 4
  • OMA1 Zinc Metallopeptidase Homolog (S. Cerevisiae) 2
  • OMA1 Homolog, Zinc Metallopeptidase 3
  • OMA1 Zinc Metallopeptidase Homolog 3
  • 2010001O09Rik 3
  • EC 3.4.24.- 4
  • Peptidase 3
  • FLJ33782 2
  • DAB1 3
  • OMA1 5

External Ids for OMA1 Gene

Previous GeneCards Identifiers for OMA1 Gene

  • GC01M058646
  • GC01M058718
  • GC01M058881
  • GC01M057056

Summaries for OMA1 Gene

GeneCards Summary for OMA1 Gene

OMA1 (OMA1 Zinc Metallopeptidase) is a Protein Coding gene. Diseases associated with OMA1 include Spinocerebellar Ataxia 28 and Optic Atrophy 1. Among its related pathways are Spinocerebellar ataxia and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot Summary for OMA1 Gene

  • 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 proteolytic cleavage of target proteins, such as OPA1, UQCC3 and DELE1 (PubMed:20038677, PubMed:25275009, PubMed:32132706, PubMed:32132707). Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion (PubMed:20038677, PubMed:25275009). Also acts as a regulator of apoptosis: upon BAK and BAX aggregation, mediates cleavage of OPA1, leading to the remodeling of mitochondrial cristae and allowing the release of cytochrome c from mitochondrial cristae (PubMed:25275009). In depolarized mitochondria, may also act as a backup protease for PINK1 by mediating PINK1 cleavage and promoting its subsequent degradation by the proteasome (PubMed:30733118). May also cleave UQCC3 in response to mitochondrial depolarization (PubMed:25605331). Also acts as an activator of the integrated stress response (ISR): in response to mitochondrial stress, mediates cleavage of DELE1 to generate the processed form of DELE1 (S-DELE1), which translocates to the cytosol and activates EIF2AK1/HRI to trigger the ISR (PubMed:32132706, PubMed:32132707). Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions (By similarity). Binds cardiolipin, possibly regulating its protein turnover (By similarity). Required for the stability of the respiratory supercomplexes (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OMA1 Gene

Genomics for OMA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OMA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J058544 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 609 +0.4 439 2.9 CREB1 GATAD2A CTCF TEAD4 PRDM10 REST ZNF629 RFX1 IKZF1 ZNF692 OMA1 DAB1 ENSG00000286918 HSALNG0003928 TACSTD2
GH01J058572 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20 -28.7 -28749 6.5 SP1 CREB1 POLR2A BACH1 TARDBP STAT3 JUND RELA SMAD5 TCF12 TACSTD2 OMA1 DAB1 RN7SL713P RF00017-226 lnc-TACSTD2-1
GH01J058583 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 21.3 -38.4 -38411 3.8 JUND PRDM1 IKZF2 YY1 PKNOX1 EED CEBPB SP1 SMARCC1 SMARCC2 HSALNG0003935 TACSTD2 OMA1 DAB1 MYSM1
GH01J058617 Enhancer 1.1 FANTOM5 Ensembl ENCODE 17.6 -72.8 -72799 5.6 FOXA1 PKNOX1 PBX2 EED CEBPB CTBP1 FOS ZNF217 MBD2 GATA3 TACSTD2 OMA1 DAB1 lnc-MYSM1-1 L13714-012 MYSM1
GH01J058698 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.7 -152.9 -152899 2.6 BRCA1 SP1 HNRNPL CREB1 GATAD2A ZNF629 POLR2A NFRKB ZHX2 JUND MYSM1 lnc-JUN-10 ENSG00000272226 OMA1 DAB1 lnc-JUN-11 TACSTD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OMA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OMA1

Top Transcription factor binding sites by QIAGEN in the OMA1 gene promoter:
  • CUTL1
  • E47
  • Elk-1
  • Meis-1
  • Meis-1a
  • POU3F1
  • RFX1
  • RP58
  • STAT5A
  • Tal-1

Genomic Locations for OMA1 Gene

Genomic Locations for OMA1 Gene
chr1:58,415,384-58,546,802
(GRCh38/hg38)
Size:
131,419 bases
Orientation:
Minus strand
chr1:58,881,056-59,012,474
(GRCh37/hg19)
Size:
131,419 bases
Orientation:
Minus strand

Genomic View for OMA1 Gene

Genes around OMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OMA1 Gene

Proteins for OMA1 Gene

  • Protein details for OMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E52-OMA1_HUMAN
    Recommended name:
    Metalloendopeptidase OMA1, mitochondrial
    Protein Accession:
    Q96E52
    Secondary Accessions:
    • D3DQ54
    • Q5T3G6
    • Q5T3G7
    • Q5T3G8
    • Q5T3G9
    • Q5T3H0
    • Q8NBB3

    Protein attributes for OMA1 Gene

    Size:
    524 amino acids
    Molecular mass:
    60120 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homooligomer.
    SequenceCaution:
    • Sequence=BAC03583.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for OMA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OMA1 Gene

Post-translational modifications for OMA1 Gene

  • May form a redox-dependent disulfide bond (By similarity). Exists in a semi-oxidized state and is activated by prolonged hypoxia (PubMed:31044600).
  • Autocatalytically cleaved in response to mitochondrial depolarization both at the N-terminus and C-terminus to generate the short active form (S-OMA1) (By similarity). Autocatalytic processing at the C-terminus takes place at residues 447-456 (By similarity). The S-OMA1 form is unstable (By similarity). Degradaded by YMEL1 in response to membrane depolarization (PubMed:26923599). Protein turnover is regulated by prohibitin (PHB and PHB2), which promotes degradation of OMA1 in a cardiolipin-binding manner (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OMA1 Gene

No data available for DME Specific Peptides for OMA1 Gene

Domains & Families for OMA1 Gene

Gene Families for OMA1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for OMA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OMA1 Gene

GenScript: Design optimal peptide antigens:
  • Metalloprotease-related protein 1 (OMA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96E52

UniProtKB/Swiss-Prot:

OMA1_HUMAN :
  • The stress-sensor region regulates proteolysis and activation.
  • Belongs to the peptidase M48 family.
Domain:
  • The stress-sensor region regulates proteolysis and activation.
Family:
  • Belongs to the peptidase M48 family.
genes like me logo Genes that share domains with OMA1: view

Function for OMA1 Gene

Molecular function for OMA1 Gene

UniProtKB/Swiss-Prot 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 proteolytic cleavage of target proteins, such as OPA1, UQCC3 and DELE1 (PubMed:20038677, PubMed:25275009, PubMed:32132706, PubMed:32132707). Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion (PubMed:20038677, PubMed:25275009). Also acts as a regulator of apoptosis: upon BAK and BAX aggregation, mediates cleavage of OPA1, leading to the remodeling of mitochondrial cristae and allowing the release of cytochrome c from mitochondrial cristae (PubMed:25275009). In depolarized mitochondria, may also act as a backup protease for PINK1 by mediating PINK1 cleavage and promoting its subsequent degradation by the proteasome (PubMed:30733118). May also cleave UQCC3 in response to mitochondrial depolarization (PubMed:25605331). Also acts as an activator of the integrated stress response (ISR): in response to mitochondrial stress, mediates cleavage of DELE1 to generate the processed form of DELE1 (S-DELE1), which translocates to the cytosol and activates EIF2AK1/HRI to trigger the ISR (PubMed:32132706, PubMed:32132707). Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions (By similarity). Binds cardiolipin, possibly regulating its protein turnover (By similarity). Required for the stability of the respiratory supercomplexes (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Protease activity is activated upon autocatalytic cleavage in response to mitochondrial depolarization.

Enzyme Numbers (IUBMB) for OMA1 Gene

Phenotypes From GWAS Catalog for OMA1 Gene

Gene Ontology (GO) - Molecular Function for OMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with OMA1: view
genes like me logo Genes that share phenotypes with OMA1: view

Animal Models for OMA1 Gene

MGI Knock Outs for OMA1:
  • Oma1 Oma1<tm1Otin>

Animal Model Products

  • Taconic Biosciences Mouse Models for OMA1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OMA1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OMA1 Gene

Localization for OMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OMA1 Gene

Mitochondrion inner membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OMA1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IDA 20038677
genes like me logo Genes that share ontologies with OMA1: view

Pathways & Interactions for OMA1 Gene

genes like me logo Genes that share pathways with OMA1: view

Pathways by source for OMA1 Gene

3 Reactome pathways for OMA1 Gene
1 KEGG pathway for OMA1 Gene
1 Cell Signaling Technology pathway for OMA1 Gene

Gene Ontology (GO) - Biological Process for OMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002024 diet induced thermogenesis IMP,ISS --
GO:0006006 glucose metabolic process IMP,ISS --
GO:0006508 proteolysis IEA --
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins IMP 20038677
GO:0006629 lipid metabolic process IMP,ISS --
genes like me logo Genes that share ontologies with OMA1: view

No data available for SIGNOR curated interactions for OMA1 Gene

Drugs & Compounds for OMA1 Gene

No Compound Related Data Available

Transcripts for OMA1 Gene

mRNA/cDNA for OMA1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OMA1

Alternative Splicing Database (ASD) splice patterns (SP) for OMA1 Gene

No ASD Table

Relevant External Links for OMA1 Gene

GeneLoc Exon Structure for
OMA1

Expression for OMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OMA1 Gene

Protein differential expression in normal tissues from HIPED for OMA1 Gene

This gene is overexpressed in Lung (11.9), Liver (10.7), and Kidney (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OMA1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OMA1

SOURCE GeneReport for Unigene cluster for OMA1 Gene:

Hs.425769

mRNA Expression by UniProt/SwissProt for OMA1 Gene:

Q96E52-OMA1_HUMAN
Tissue specificity: Widely expressed, with strong expression in the heart, skeletal muscle, kidney and liver.

Evidence on tissue expression from TISSUES for OMA1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Heart(2.7)
  • Muscle(2.6)
  • Kidney(2.5)
  • Blood(2.2)
  • Pancreas(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with OMA1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OMA1 Gene

Orthologs for OMA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OMA1 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia OMA1 30 31
  • 86.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OMA1 30 31
  • 86.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Oma1 30
  • 77.95 (n)
Mouse
(Mus musculus)
Mammalia Oma1 30 17 31
  • 75.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OMA1 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves OMA1 30 31
  • 65.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OMA1 31
  • 51 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia oma1 30
  • 64.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100331186 30
  • 58.02 (n)
OMA1 31
  • 44 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OMA1 30 31 33
  • 46.16 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07711g 30
  • 44.26 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oma1 30
  • 47.4 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Species where no ortholog for OMA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for OMA1 Gene

ENSEMBL:
Gene Tree for OMA1 (if available)
TreeFam:
Gene Tree for OMA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OMA1: view image

Paralogs for OMA1 Gene

No data available for Paralogs for OMA1 Gene

Variants for OMA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OMA1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
713749 Likely Benign: not provided 58,530,648(-) C/A MISSENSE_VARIANT
722109 Likely Benign: not provided 58,480,975(-) G/A MISSENSE_VARIANT
729080 Likely Benign: not provided 58,534,306(-) A/G MISSENSE_VARIANT
767673 Benign: not provided 58,539,090(-) G/A MISSENSE_VARIANT
773636 Benign: not provided 58,534,181(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for OMA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for OMA1 Gene

Variant ID Type Subtype PubMed ID
esv3586166 CNV gain 21293372
nsv1003930 CNV gain 25217958
nsv474453 CNV novel sequence insertion 20440878
nsv829948 CNV gain 17160897
nsv998092 CNV loss 25217958

Variation tolerance for OMA1 Gene

Residual Variation Intolerance Score: 86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.31; 81.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OMA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OMA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OMA1 Gene

Disorders for OMA1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for OMA1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search OMA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OMA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with OMA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OMA1 Gene

Publications for OMA1 Gene

  1. Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells. (PMID: 20038677) Head B … van der Bliek AM (The Journal of cell biology 2009) 2 3 4
  2. Identification of a human cDNA sequence which encodes a novel membrane-associated protein containing a zinc metalloprotease motif. (PMID: 12886954) Bao YC … Kumagai H (DNA research : an international journal for rapid publication of reports on genes and genomes 2003) 3 4 23
  3. Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway. (PMID: 32132707) Guo X … Kampmann M (Nature 2020) 3 4
  4. Reciprocal Roles of Tom7 and OMA1 during Mitochondrial Import and Activation of PINK1. (PMID: 30733118) Sekine S … Youle RJ (Molecular cell 2019) 3 4
  5. Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress. (PMID: 26923599) Rainbolt TK … Wiseman RL (Cell reports 2016) 3 4

Products for OMA1 Gene

  • Signalway Proteins for OMA1

Sources for OMA1 Gene