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    MTLN mitoregulin [ Homo sapiens (human) ]

    Gene ID: 205251, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MTLNprovided by HGNC
    Official Full Name
    mitoregulinprovided by HGNC
    Primary source
    HGNC:HGNC:27339
    See related
    Ensembl:ENSG00000175701 MIM:620770; AllianceGenome:HGNC:27339
    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
    MPM; LEMP; MOXI; TILR; SMIM37; LINC00116; NCRNA00116
    Summary
    Involved in several processes, including fatty acid beta-oxidation; positive regulation of mitochondrial membrane potential; and triglyceride homeostasis. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 3.7), kidney (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTLN in Genome Data Viewer
    Location:
    2q13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110211529..110212547, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (110581192..110582210)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (110969106..110970124, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microRNA 4436b-1 Neighboring gene mal, T cell differentiation protein like Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:110863055-110864254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:110872579-110873386 Neighboring gene nephrocystin 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:110906815-110908014 Neighboring gene NANOG hESC enhancer GRCh37_chr2:110925133-110925634 Neighboring gene ACTR1A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16370 Neighboring gene uncharacterized LOC124906059 Neighboring gene two pore channel 3 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. LINC00116 enhances cervical cancer tumorigenesis through miR-106a/c-Jun pathway. Lai Y, et al. J Cell Biochem, 2020 Mar. PMID 31693227
    2. Long non-coding RNA TILR constitutively represses TP53 and apoptosis in lung cancer. Iwai M, et al. Oncogene, 2023 Jan. PMID 36522487
    3. LINC00116 codes for a mitochondrial peptide linking respiration and lipid metabolism. Chugunova A, et al. Proc Natl Acad Sci U S A, 2019 Mar 12. PMID 30796188, Free PMC Article
    4. Mitoregulin: A lncRNA-Encoded Microprotein that Supports Mitochondrial Supercomplexes and Respiratory Efficiency. Stein CS, et al. Cell Rep, 2018 Jun 26. PMID 29949756, Free PMC Article
    5. Mitoregulin Controls β-Oxidation in Human and Mouse Adipocytes. Friesen M, et al. Stem Cell Reports, 2020 Apr 14. PMID 32243843, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long non-coding RNA TILR constitutively represses TP53 and apoptosis in lung cancer.
      Title: Long non-coding RNA TILR constitutively represses TP53 and apoptosis in lung cancer.
    2. LINC00116 enhances cervical cancer tumorigenesis through miR-106a/c-Jun pathway.
      Title: LINC00116 enhances cervical cancer tumorigenesis through miR-106a/c-Jun pathway.
    3. Mitoregulin Controls beta-Oxidation in Human and Mouse Adipocytes.
      Title: Mitoregulin Controls β-Oxidation in Human and Mouse Adipocytes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular respiration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of fatty acid beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of mitochondrial membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of sequestering of calcium ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of sequestering of calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in striated muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mitoregulin
    Names
    TP53-inhibiting lncRNA
    lncRNA encoded micropeptide
    long intergenic non-protein coding RNA 116
    micropeptide in mitochondria
    micropeptide regulator of beta-oxidation
    small integral membrane protein 37

    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_001384134.1 → NP_001371063.1  mitoregulin

      Status: VALIDATED

      Source sequence(s)
      AC140479
      Consensus CDS
      CCDS92837.1
      UniProtKB/Swiss-Prot
      Q8NCU8
      Related
      ENSP00000485064.1, ENST00000611969.5

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      110211529..110212547 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      110581192..110582210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001355251.2: Suppressed sequence

      Description
      NM_001355251.2: This RefSeq was removed because currently there is not sufficient data to support this transcript.

    2. NM_174925.1: Suppressed sequence

      Description
      NM_174925.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

    3. NR_027063.1: Suppressed sequence

      Description
      NR_027063.1: This RefSeq has been removed because it is now thought that this gene encodes a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCU8.2 GenPept UniProtKB/Swiss-Prot:Q8NCU8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials