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Aliases for OMA1 Gene

Aliases for OMA1 Gene

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

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 Acute Contagious Conjunctivitis. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Glucose / Energy Metabolism. GO annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot for OMA1 Gene

  • Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. 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. May also cleave UQCC3 under these conditions. 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OMA1 Gene

Genomics for OMA1 Gene

Regulatory Elements for OMA1 Gene

Enhancers for OMA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G058583 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.2 -38.4 -38412 3.8 PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 TCF12 GATA2 TACSTD2 OMA1 DAB1 GC01M058574
GH01G058572 1.6 FANTOM5 ENCODE dbSUPER 20 -28.7 -28748 6.5 PKNOX1 MLX ARID4B SIN3A YY1 ZNF207 FOS DEK SP5 ZHX2 TACSTD2 OMA1 DAB1 RN7SL713P
GH01G058617 1.5 FANTOM5 Ensembl ENCODE 17.6 -72.7 -72696 4.0 PKNOX1 RAD21 ZNF766 GATA2 SCRT2 RCOR1 ETV6 FOS ZNF398 ZNF592 TACSTD2 OMA1 DAB1 AK2P1 GC01M058574
GH01G058578 0.8 dbSUPER 16.2 -32.7 -32710 1.0 BCOR ELF3 SAP130 ZMYM3 ZNF384 TEAD3 RARA NR2F6 MIXL1 GATAD2A TACSTD2 OMA1 DAB1 GC01M058574
GH01G058652 1 Ensembl ENCODE 11.5 -105.9 -105938 0.3 HDGF CTCF RB1 MAX RAD21 RFX5 ZNF143 SMC3 NFE2 MAFK TACSTD2 DAB1 OMA1 MYSM1 GC01M058655 GC01P058635
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OMA1 on UCSC Golden Path with GeneCards custom track

Promoters for OMA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007120 299 1800 HDGF HNRNPUL1 PKNOX1 FOXA2 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1

Genomic Location for OMA1 Gene

Chromosome:
1
Start:
58,415,384 bp from pter
End:
58,546,802 bp from pter
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:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03583.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI13522.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13523.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13524.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13525.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13526.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22238.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for OMA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OMA1 Gene

Post-translational modifications for OMA1 Gene

  • In normal conditions, cleaved into an inactive 40 kDa form. Following CCCP treatment that induces loss of mitochondrial membrane potential, the 40 kDa form is reduced in favor of an active 60 kDa form.
  • 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

Protein Domains for OMA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OMA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96E52

UniProtKB/Swiss-Prot:

OMA1_HUMAN :
  • Belongs to the peptidase M48 family.
Family:
  • Belongs to the peptidase M48 family.
genes like me logo Genes that share domains with OMA1: view

No data available for Gene Families for OMA1 Gene

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. 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. May also cleave UQCC3 under these conditions. 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.

Enzyme Numbers (IUBMB) 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for OMA1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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; Multi-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 2
extracellular 1
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

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

1 Cell Signaling Technology pathway for OMA1 Gene
3 Reactome pathways 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 22433842
GO:0006006 glucose metabolic process IMP 22433842
GO:0006508 proteolysis IEA --
GO:0006515 misfolded or incompletely synthesized protein catabolic process IMP 20038677
GO:0006629 lipid metabolic process IMP 22433842
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

Unigene Clusters for OMA1 Gene

OMA1 zinc metallopeptidase homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
OMA1

Expression for OMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for OMA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of OMA1 Gene:

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(4.4)
genes like me logo Genes that share expression patterns with OMA1: view

Primer Products

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 34 35
  • 86.39 (n)
cow
(Bos Taurus)
Mammalia OMA1 34 35
  • 86.23 (n)
rat
(Rattus norvegicus)
Mammalia Oma1 34
  • 77.95 (n)
mouse
(Mus musculus)
Mammalia Oma1 34 16 35
  • 75.93 (n)
oppossum
(Monodelphis domestica)
Mammalia OMA1 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves OMA1 34 35
  • 65.43 (n)
lizard
(Anolis carolinensis)
Reptilia OMA1 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oma1 34
  • 64.62 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331186 34
  • 58.02 (n)
OMA1 35
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OMA1 34 35 37
  • 46.16 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07711g 34
  • 44.26 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oma1 34
  • 47.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToOne
Species where no ortholog for OMA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for OMA1 Gene

No data available for Paralogs for OMA1 Gene

Variants for OMA1 Gene

Sequence variations from dbSNP and Humsavar for OMA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035708 A colorectal cancer sample
rs1000044898 -- 58,482,464(+) CCAAA(A/G)TAATT intron-variant
rs1000050618 -- 58,513,119(+) GGGAC(C/T)TGGTA intron-variant
rs1000072592 -- 58,482,848(+) TGGAG(A/G)GCAGG intron-variant
rs1000161572 -- 58,481,132(+) TGGAT(G/T)AGACA reference, missense

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)

Relevant External Links for OMA1 Gene

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

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

Disorders for OMA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OMA1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
acute contagious conjunctivitis
  • contagious opthalmia
- elite association - COSMIC cancer census association via MalaCards
Search OMA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for OMA1

Genetic Association Database (GAD)
OMA1
Human Genome Epidemiology (HuGE) Navigator
OMA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OMA1
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. Identification of a human cDNA sequence which encodes a novel membrane-associated protein containing a zinc metalloprotease motif. (PMID: 12886954) Bao Y.-C. … Kumagai H. (DNA Res. 2003) 3 4 22 64
  2. C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization. (PMID: 25605331) Desmurs M. … Lane L. (Mol. Cell. Biol. 2015) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells. (PMID: 20038677) Head B. … van der Bliek A.M. (J. Cell Biol. 2009) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for OMA1 Gene

  • Addgene plasmids for OMA1

Sources for OMA1 Gene

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