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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
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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
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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

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