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 Acute Contagious Conjunctivitis. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation. 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 , 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
GH01F058583 1.4 FANTOM5 Ensembl ENCODE 21.2 -38.4 -38412 3.8 PKNOX1 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 FOS SP5 JUNB TACSTD2 OMA1 DAB1 GC01M058574
GH01F058572 1.3 FANTOM5 ENCODE 20 -28.7 -28748 6.5 PKNOX1 MLX ARID4B SIN3A YY1 ZNF207 FOS DEK SP5 ZHX2 TACSTD2 OMA1 DAB1 RN7SL713P
GH01F058617 1.3 FANTOM5 Ensembl ENCODE 17.6 -72.7 -72696 4.0 PKNOX1 RAD21 RELA GATA3 ZNF766 CTBP1 SCRT2 EED RCOR1 FOS TACSTD2 OMA1 DAB1 AK2P1 GC01M058574
GH01F058515 0.2 ENCODE 12.2 +30.8 30799 0.2 CTCF ZNF654 MAX ZBTB8A REST ZIC2 ZNF2 RAD21 ZBTB40 RFX5 DAB1 OMA1 TACSTD2 GC01M058497
GH01F058539 0.2 ENCODE 11.5 +7.2 7167 1.2 HDGF MTA2 HLF CEBPB CEBPG TBX21 ZKSCAN1 ZFHX2 IKZF1 CEBPA TACSTD2 OMA1 MYSM1 DAB1 GC01M058497
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000077425 502 2200 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS

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 IMP 20038677
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OMA1

Flow Cytometry Products

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
Jensen Localization Image for OMA1 Gene COMPARTMENTS Subcellular localization image for OMA1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2
cytosol 1
extracellular 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 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 IEA --
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

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

Transcripts for OMA1 Gene

Unigene Clusters for OMA1 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OMA1

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with OMA1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
rs10218842 -- 58,531,916(+) GTTGG(C/T)CAGGC intron-variant
rs1032822 -- 58,541,590(+) CCGGC(C/G)TGGGC intron-variant
rs10489815 -- 58,483,838(+) CTTTA(A/C)AATGA intron-variant
rs10489816 -- 58,484,315(+) AGATA(C/T)GTGAA intron-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)

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: DISEASES

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

Sources for OMA1 Gene

Content
Loading form....