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    MRLN myoregulin [ Homo sapiens (human) ]

    Gene ID: 100507027, updated on 8-Mar-2024

    Summary

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    Official Symbol
    MRLNprovided by HGNC
    Official Full Name
    myoregulinprovided by HGNC
    Primary source
    HGNC:HGNC:48649
    See related
    Ensembl:ENSG00000227877 MIM:616246; AllianceGenome:HGNC:48649
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    M1; MLN; MUSER1; Linc-RAM; LINC00948
    Summary
    This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these peptides, regulating Ca(2+) reuptake in the sarcoplasmic reticulum by inhibiting the Ca(2+) pump activity of SERCAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2015]
    Expression
    Biased expression in kidney (RPKM 2.5), prostate (RPKM 1.2) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRLN in Genome Data Viewer
    Location:
    10q21.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (59736692..59753455, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (60590427..60607189, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (61496450..61513213, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378319 Neighboring gene solute carrier family 16 member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:61521925-61522472 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:61529872-61530061 Neighboring gene NANOG hESC enhancer GRCh37_chr10:61549690-61550191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:61562933-61563434 Neighboring gene coiled-coil domain containing 6 Neighboring gene Sharpr-MPRA regulatory region 6982 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:61607379-61608319 Neighboring gene Sharpr-MPRA regulatory region 3861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2387 Neighboring gene Sharpr-MPRA regulatory region 3982 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:61667949-61668742 Neighboring gene long intergenic non-protein coding RNA 1553

    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. Functional Role of an Unusual Transmembrane Acidic Residue in the Calcium Pump Regulator Myoregulin. Liu AY, et al. Biochemistry, 2023 Apr 18. PMID 37014032
    2. Downregulation of Linc-RNA activator of myogenesis lncRNA participates in FGF2-mediated proliferation of human periodontal ligament stem cells. Wu X, et al. J Periodontol, 2020 Mar. PMID 31378921
    3. Long non-coding RNA Linc-RAM enhances myogenic differentiation by interacting with MyoD. Yu X, et al. Nat Commun, 2017 Jan 16. PMID 28091529, Free PMC Article
    4. A micropeptide encoded by a putative long noncoding RNA regulates muscle performance. Anderson DM, et al. Cell, 2015 Feb 12. PMID 25640239, Free PMC Article
    5. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional Role of an Unusual Transmembrane Acidic Residue in the Calcium Pump Regulator Myoregulin.
      Title: Functional Role of an Unusual Transmembrane Acidic Residue in the Calcium Pump Regulator Myoregulin.
    2. downregulation of Linc-RAM lncRNA may participate in FGF-2 mediated- proliferation of human PDLSCs
      Title: Downregulation of Linc-RNA activator of myogenesis lncRNA participates in FGF2-mediated proliferation of human periodontal ligament stem cells.
    3. The human and mouse MLN genes consist of three exons that span 16.5 and 15.0 kb, respectively, with the ORF located in exon 3; findings identify MLN as an important regulator of skeletal muscle physiology.
      Title: A micropeptide encoded by a putative long noncoding RNA regulates muscle performance.
    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)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of calcium ion import into sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    myoregulin
    Names
    Linc-RNA activator of myogenesis
    long intergenic non-protein coding RNA 948
    muscle enriched RNA 1
    muscle specific 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_001304731.2 → NP_001291660.1  myoregulin

      See identical proteins and their annotated locations for NP_001291660.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB019391, AC022027, BG210823
      Consensus CDS
      CCDS81467.1
      UniProtKB/Swiss-Prot
      P0DMT0
      Related
      ENSP00000488748.1, ENST00000414264.6
      Conserved Domains (1) summary
      cd20260
      Location:2 → 46
      Myoregulin

    2. NM_001304732.2 → NP_001291661.1  myoregulin

      See identical proteins and their annotated locations for NP_001291661.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB019391, AC022027, BG210823, BM021470
      Consensus CDS
      CCDS81467.1
      UniProtKB/Swiss-Prot
      P0DMT0
      Related
      ENSP00000488299.1, ENST00000430431.5
      Conserved Domains (1) summary
      cd20260
      Location:2 → 46
      Myoregulin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      59736692..59753455 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      60590427..60607189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DMT0.1 GenPept UniProtKB/Swiss-Prot:P0DMT0

    Gene LinkOut

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

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    Research Materials
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