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    MRPL12 mitochondrial ribosomal protein L12 [ Homo sapiens (human) ]

    Gene ID: 6182, updated on 11-Apr-2024

    Summary

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    Official Symbol
    MRPL12provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L12provided by HGNC
    Primary source
    HGNC:HGNC:10378
    See related
    Ensembl:ENSG00000262814 MIM:602375; AllianceGenome:HGNC:10378
    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
    5c5-2; L12mt; MRPL7; bL12m; RPML12; MRPL7/L12; MRP-L31/34
    Summary
    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in colon (RPKM 31.4), heart (RPKM 25.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q25.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81703367..81707517)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82620267..82624415)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79670397..79674547)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9143 Neighboring gene Sharpr-MPRA regulatory region 13823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9145 Neighboring gene ADP ribosylation factor like GTPase 16 Neighboring gene hepatocyte growth factor-regulated tyrosine kinase substrate Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79659706-79659891 Neighboring gene microRNA 6786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79667464-79668068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79668069-79668672 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79669277-79669880 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79669881-79670484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79677211-79677911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9150 Neighboring gene solute carrier family 25 member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79689497-79690038 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79697182-79697401 Neighboring gene uncharacterized LOC105371929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79699122-79699658

    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. MRPL12 Acts as A Novel Prognostic Biomarker Involved in Immune Cell Infiltration and Tumor Progression of Lung Adenocarcinoma. Hu Y, et al. Int J Mol Sci, 2023 Feb 1. PMID 36769082, Free PMC Article
    2. Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. Serre V, et al. Biochim Biophys Acta, 2013 Aug. PMID 23603806, Free PMC Article
    3. Expression and human chromosomal localization to 17q25 of the growth-regulated gene encoding the mitochondrial ribosomal protein MRPL12. Marty L, et al. Genomics, 1997 May 1. PMID 9169145
    4. A delayed-early response nuclear gene encoding MRPL12, the mitochondrial homologue to the bacterial translational regulator L7/L12 protein. Marty L, et al. J Biol Chem, 1996 May 10. PMID 8626705
    5. Transcription of MRPL12 regulated by Nrf2 contributes to the mitochondrial dysfunction in diabetic kidney disease. Gu X, et al. Free Radic Biol Med, 2021 Feb 20. PMID 33444714

    See all (91) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CUL3 induces mitochondrial dysfunction via MRPL12 ubiquitination in renal tubular epithelial cells.
      Title: CUL3 induces mitochondrial dysfunction via MRPL12 ubiquitination in renal tubular epithelial cells.
    2. Mitochondrial ribosomal protein L12 potentiates hepatocellular carcinoma by regulating mitochondrial biogenesis and metabolic reprogramming.
      Title: Mitochondrial ribosomal protein L12 potentiates hepatocellular carcinoma by regulating mitochondrial biogenesis and metabolic reprogramming.
    3. MRPL12 Acts as A Novel Prognostic Biomarker Involved in Immune Cell Infiltration and Tumor Progression of Lung Adenocarcinoma.
      Title: MRPL12 Acts as A Novel Prognostic Biomarker Involved in Immune Cell Infiltration and Tumor Progression of Lung Adenocarcinoma.
    4. Transcription of MRPL12 regulated by Nrf2 contributes to the mitochondrial dysfunction in diabetic kidney disease.
      Title: Transcription of MRPL12 regulated by Nrf2 contributes to the mitochondrial dysfunction in diabetic kidney disease.
    5. knock-down of MRPL12 by RNA interference results in instability of POLRMT.
      Title: Mitochondrial Ribosomal Protein L12 Is Required for POLRMT Stability and Exists as Two Forms Generated by Alternative Proteolysis during Import.
    6. This mutation resulted in a decreased steady-state level of MRPL12 protein.
      Title: Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. the MRPL12 interaction with POLRMT is likely part of a novel regulatory mechanism that coordinates mitochondrial transcription with translation
      Title: Human mitochondrial ribosomal protein MRPL12 interacts directly with mitochondrial RNA polymerase to modulate mitochondrial gene expression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 45
    MedGen: C5436461 OMIM: 618951 GeneReviews: Not available
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8610, FLJ60124

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein bL12m
    Names
    39S ribosomal protein L12, mitochondrial
    MRP-L12
    mitochondrial large ribosomal subunit protein bL12m

    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_002949.4 → NP_002940.2  large ribosomal subunit protein bL12m

      See identical proteins and their annotated locations for NP_002940.2

      Status: REVIEWED

      Source sequence(s)
      AC139530, AF105278, BC002344, DA648796
      Consensus CDS
      CCDS11785.1
      UniProtKB/Swiss-Prot
      P52815, Q969U0, Q9HCA2, Q9UQJ3
      Related
      ENSP00000333837.3, ENST00000333676.8
      Conserved Domains (2) summary
      pfam00542
      Location:130 → 198
      Ribosomal_L12; Ribosomal protein L7/L12 C-terminal domain
      pfam16320
      Location:63 → 102
      Ribosomal_L12_N; Ribosomal protein L7/L12 dimerization domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81703367..81707517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82620267..82624415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52815.2 GenPept UniProtKB/Swiss-Prot:P52815

    Gene LinkOut

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

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