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    OMA1 OMA1 zinc metallopeptidase [ Homo sapiens (human) ]

    Gene ID: 115209, updated on 27-Nov-2024

    Summary

    Official Symbol
    OMA1provided by HGNC
    Official Full Name
    OMA1 zinc metallopeptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:29661
    See related
    Ensembl:ENSG00000162600 MIM:617081; AllianceGenome:HGNC:29661
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAB1; MPRP1; MPRP-1; YKR087C; ZMPOMA1; peptidase; 2010001O09Rik
    Summary
    Enables metalloendopeptidase activity. Involved in several processes, including HRI-mediated signaling; mitochondrial protein processing; and regulation of mitochondrion organization. Located in mitochondrial inner membrane. Is active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 9.7), prostate (RPKM 9.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See OMA1 in Genome Data Viewer
    Location:
    1p32.2-p32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (58480719..58546726, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (58358657..58424702, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (58946391..59012398, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DAB adaptor protein 1 Neighboring gene Sharpr-MPRA regulatory region 8067 Neighboring gene MPRA-validated peak251 silencer Neighboring gene VKORC1 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:58857658-58858158 Neighboring gene uncharacterized LOC107984960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:59011807-59012433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:59041692-59042387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:59042388-59043082 Neighboring gene RNA, 7SL, cytoplasmic 713, pseudogene Neighboring gene tumor associated calcium signal transducer 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DAB1

    Clone Names

    • FLJ33782

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in HRI-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cristae formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in diet induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in integrated stress response signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial protein processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mitochondrial fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in protein autoprocessing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein quality control for misfolded or incompletely synthesized proteins IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein quality control for misfolded or incompletely synthesized proteins IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cristae formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in zymogen activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    metalloendopeptidase OMA1, mitochondrial
    Names
    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 OMA1
    NP_660286.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_145243.5NP_660286.1  metalloendopeptidase OMA1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_660286.1

      Status: VALIDATED

      Source sequence(s)
      AL109845, AL365187
      Consensus CDS
      CCDS608.1
      UniProtKB/Swiss-Prot
      D3DQ54, Q5T3G6, Q5T3G7, Q5T3G8, Q5T3G9, Q5T3H0, Q8NBB3, Q96E52
      Related
      ENSP00000360270.3, ENST00000371226.8
      Conserved Domains (1) summary
      cd07331
      Location:263456
      M48C_Oma1_like; Peptidase M48C, integral membrane endopeptidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      58480719..58546726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      58358657..58424702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)