Free for academic non-profit institutions. Other users need a Commercial license

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 3-Methylglutaconic Aciduria, Type Iii. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Glucose / Energy Metabolism. Gene Ontology (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.

Additional gene information for OMA1 Gene

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

GeneHancer (GH) Regulatory Elements for OMA1 Gene

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 EPDnew Ensembl ENCODE 657.9 +0.6 639 2.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 POLR2B OMA1 DAB1 TACSTD2 GC01M058497
GH01J058572 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20 -28.7 -28747 6.5 PKNOX1 SMAD1 SIN3A IRF4 ZNF207 ATF7 FOS RUNX3 JUNB NBN TACSTD2 OMA1 DAB1 RN7SL713P GC01M058574
GH01J058583 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.2 -38.4 -38411 3.8 PKNOX1 BATF RFX5 SMARCC2 RCOR1 ATF7 ETV6 FOS IKZF2 RUNX3 TACSTD2 OMA1 DAB1 GC01M058574
GH01J058698 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.7 -153.0 -152953 2.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MYSM1 ENSG00000272226 OMA1 DAB1 GC01M058655
GH01J058617 Enhancer 1.1 FANTOM5 Ensembl ENCODE 17.6 -72.7 -72696 4 SMARCE1 MEIS2 PKNOX1 DPF2 FOXA1 ZNF217 JUND CTBP1 GATA3 IKZF1 TACSTD2 OMA1 DAB1 GC01M058620 AK2P1 GC01M058574
- 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 UCSC Golden Path with GeneCards custom track

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

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:

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

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

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

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

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 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 22433842
GO:0006006 glucose metabolic process IMP 22433842
GO:0006508 proteolysis IEA --
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins 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

mRNA/cDNA for OMA1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(124) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OMA1 Gene

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

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, 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

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 33
  • 86.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OMA1 34 33
  • 86.23 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oma1 33
  • 77.95 (n)
mouse
(Mus musculus)
Mammalia Oma1 16 34 33
  • 75.93 (n)
oppossum
(Monodelphis domestica)
Mammalia OMA1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves OMA1 34 33
  • 65.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OMA1 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oma1 33
  • 64.62 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331186 33
  • 58.02 (n)
OMA1 34
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OMA1 36 34 33
  • 46.16 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07711g 33
  • 44.26 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oma1 33
  • 47.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
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 from dbSNP and Humsavar for OMA1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_035708 A colorectal cancer sample p.Leu226Val
rs1000044898 -- 58,482,464(-) A/G intron_variant
rs1000050618 -- 58,513,119(-) T/C intron_variant
rs1000072592 -- 58,482,848(-) G/A intron_variant
rs1000161572 -- 58,481,132(-) T/G coding_sequence_variant, missense_variant

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

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

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type iii
  • mgca3
- 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
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 YC … Kumagai H (DNA research : an international journal for rapid publication of reports on genes and genomes 2003) 3 4 22 58
  2. C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization. (PMID: 25605331) Desmurs M … Lane L (Molecular and cellular biology 2015) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. 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) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for OMA1 Gene

Sources for OMA1 Gene

Content
Loading form....