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MTLN mitoregulin [ Homo sapiens (human) ]

Gene ID: 205251, updated on 27-Nov-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, Nov 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: 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

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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 [email protected] 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