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Aliases for MRPL12 Gene

Aliases for MRPL12 Gene

  • Mitochondrial Ribosomal Protein L12 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein BL12m 3 4
  • MRP-L12 3 4
  • RPML12 3 4
  • 5c5-2 3 4
  • L12mt 3 4
  • MRPL7 3 4
  • 39S Ribosomal Protein L12, Mitochondrial 3
  • MRP-L31/34 3
  • MRPL7/L12 3

External Ids for MRPL12 Gene

Previous HGNC Symbols for MRPL12 Gene

  • RPML12

Previous GeneCards Identifiers for MRPL12 Gene

  • GC17U990085
  • GC17P080228
  • GC17P080366
  • GC17P077280
  • GC17P079670
  • GC17P075116

Summaries for MRPL12 Gene

Entrez Gene Summary for MRPL12 Gene

  • 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]

GeneCards Summary for MRPL12 Gene

MRPL12 (Mitochondrial Ribosomal Protein L12) is a Protein Coding gene. Diseases associated with MRPL12 include Brain Glioblastoma Multiforme. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include RNA binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot for MRPL12 Gene

  • Associates with mitochondrial RNA polymerase to activate transcription.

Gene Wiki entry for MRPL12 Gene

Additional gene information for MRPL12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL12 Gene

Genomics for MRPL12 Gene

Regulatory Elements for MRPL12 Gene

Enhancers for MRPL12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H082095 2.1 FANTOM5 Ensembl ENCODE dbSUPER 2.9 +398.5 398453 13.5 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF585B CCDC57 CEP131 LOC105371942 TBCD ALYREF HGS WDR45B NPLOC4 ARL16 DCXR
GH17H081228 0.9 Ensembl ENCODE 5.7 -474.6 -474592 1 PKNOX1 ZNF687 MAX ELF1 DPF2 ZNF664 POLR2A IKZF1 IKZF2 SPI1 NDUFAF8 MRPL12 LOC105371925 TEPSIN
GH17H081336 1.8 FANTOM5 ENCODE dbSUPER 2.2 -361.4 -361414 10.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CEP131 TMEM105 FAAP100 HGS RFNG ENSG00000265678 CCDC57 LINC00482 ENDOV DUS1L
GH17H082094 0.8 FANTOM5 dbSUPER 1.2 +391.5 391535 0.1 POLR2A SMAD5 FASN DUS1L SLC25A10 ASPSCR1 PCYT2 DCXR LRRC45 FOXK2 GCGR MRPL12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL12 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MRPL12 Gene

Genomic Locations for MRPL12 Gene
chr17:81,703,357-81,707,526
(GRCh38/hg38)
Size:
4,170 bases
Orientation:
Plus strand
chr17:79,670,387-79,674,556
(GRCh37/hg19)

Genomic View for MRPL12 Gene

Genes around MRPL12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL12 Gene

Proteins for MRPL12 Gene

  • Protein details for MRPL12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52815-RM12_HUMAN
    Recommended name:
    39S ribosomal protein L12, mitochondrial
    Protein Accession:
    P52815
    Secondary Accessions:
    • Q969U0
    • Q9HCA2
    • Q9UQJ3

    Protein attributes for MRPL12 Gene

    Size:
    198 amino acids
    Molecular mass:
    21348 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:8626705). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins (Probable). bL12m interacts with NOA1 (PubMed:19103604).
    SequenceCaution:
    • Sequence=AAD16894.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for MRPL12 Gene

Post-translational modifications for MRPL12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL12 Gene

Domains & Families for MRPL12 Gene

Gene Families for MRPL12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Ribosomal proteins

Suggested Antigen Peptide Sequences for MRPL12 Gene

Graphical View of Domain Structure for InterPro Entry

P52815

UniProtKB/Swiss-Prot:

RM12_HUMAN :
  • Belongs to the bacterial ribosomal protein bL12 family.
Family:
  • Belongs to the bacterial ribosomal protein bL12 family.
genes like me logo Genes that share domains with MRPL12: view

Function for MRPL12 Gene

Molecular function for MRPL12 Gene

UniProtKB/Swiss-Prot Function:
Associates with mitochondrial RNA polymerase to activate transcription.

Phenotypes From GWAS Catalog for MRPL12 Gene

Gene Ontology (GO) - Molecular Function for MRPL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 8626705
GO:0003735 structural constituent of ribosome IEA,TAS --
GO:0005515 protein binding IPI 17337445
genes like me logo Genes that share ontologies with MRPL12: view
genes like me logo Genes that share phenotypes with MRPL12: view

Animal Model Products

CRISPR Products

miRNA for MRPL12 Gene

miRTarBase miRNAs that target MRPL12

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL12 Gene

Localization for MRPL12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL12 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPL12 gene
Compartment Confidence
mitochondrion 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA,IDA 17337445
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA,TAS 20186120
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL12: view

Pathways & Interactions for MRPL12 Gene

genes like me logo Genes that share pathways with MRPL12: view

Gene Ontology (GO) - Biological Process for MRPL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006390 transcription from mitochondrial promoter IDA 17337445
GO:0006412 translation IEA --
GO:0045893 positive regulation of transcription, DNA-templated IDA 17337445
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL12: view

No data available for SIGNOR curated interactions for MRPL12 Gene

Drugs & Compounds for MRPL12 Gene

No Compound Related Data Available

Transcripts for MRPL12 Gene

mRNA/cDNA for MRPL12 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(715) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MRPL12 Gene

Mitochondrial ribosomal protein L12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL12 Gene

No ASD Table

Relevant External Links for MRPL12 Gene

GeneLoc Exon Structure for
MRPL12
ECgene alternative splicing isoforms for
MRPL12

Expression for MRPL12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPL12 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MRPL12 Gene



Protein tissue co-expression partners for MRPL12 Gene

NURSA nuclear receptor signaling pathways regulating expression of MRPL12 Gene:

MRPL12

SOURCE GeneReport for Unigene cluster for MRPL12 Gene:

Hs.109059

Evidence on tissue expression from TISSUES for MRPL12 Gene

  • Muscle(4.1)
  • Skin(2.5)
  • Lung(2.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with MRPL12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL12 Gene

Orthologs for MRPL12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MRPL12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL12 33
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia MRPL12 33
  • 87.37 (n)
cow
(Bos Taurus)
Mammalia MRPL12 33
  • 86.2 (n)
mouse
(Mus musculus)
Mammalia Mrpl12 33 16 34
  • 83.67 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl12 33
  • 82.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL12 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL12 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL12 33
  • 70.78 (n)
lizard
(Anolis carolinensis)
Reptilia MRPL12 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl12 33
  • 64.27 (n)
Str.1933 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24066 33
zebrafish
(Danio rerio)
Actinopterygii mrpl12 33 34
  • 64.51 (n)
Dr.9805 33
fruit fly
(Drosophila melanogaster)
Insecta mRpL12 33 34
  • 54.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011581 33
  • 53.53 (n)
worm
(Caenorhabditis elegans)
Secernentea mrpl-12 33 34
  • 52.17 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL089C 33
  • 56.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNP1 33 34 36
  • 52.97 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03212g 33
  • 52.32 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06469 33
  • 55.77 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC4B3.09c 33
  • 46.56 (n)
Species where no ortholog for MRPL12 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MRPL12 Gene

ENSEMBL:
Gene Tree for MRPL12 (if available)
TreeFam:
Gene Tree for MRPL12 (if available)

Paralogs for MRPL12 Gene

(2) SIMAP similar genes for MRPL12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MRPL12: view

No data available for Paralogs for MRPL12 Gene

Variants for MRPL12 Gene

Sequence variations from dbSNP and Humsavar for MRPL12 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000096042 -- 81,704,897(+) GCATG(G/T)GGAGA intron-variant
rs1000864019 -- 81,705,146(+) GCTGA(A/G)GCAGG intron-variant
rs1000981087 -- 81,704,083(+) GAGAA(C/T)CCTGG intron-variant
rs1001092493 -- 81,705,945(+) GTAGA(A/G)CCTGT intron-variant
rs1001680185 -- 81,705,743(+) GTTGC(A/G)TGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MRPL12 Gene

Variant ID Type Subtype PubMed ID
nsv952390 CNV deletion 24416366
nsv828128 CNV loss 20364138
nsv478614 CNV novel sequence insertion 20440878
nsv470620 CNV loss 18288195
nsv428351 CNV gain 18775914
esv26223 CNV gain+loss 19812545

Variation tolerance for MRPL12 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.82; 67.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRPL12 Gene

Human Gene Mutation Database (HGMD)
MRPL12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL12 Gene

Disorders for MRPL12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPL12 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
brain glioblastoma multiforme
  • brain glioblastoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MRPL12

Genetic Association Database (GAD)
MRPL12
Human Genome Epidemiology (HuGE) Navigator
MRPL12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPL12
genes like me logo Genes that share disorders with MRPL12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL12 Gene

Publications for MRPL12 Gene

  1. A delayed-early response nuclear gene encoding MRPL12, the mitochondrial homologue to the bacterial translational regulator L7/L12 protein. (PMID: 8626705) Marty L … Fort P (The Journal of biological chemistry 1996) 2 3 4 22 60
  2. Mitochondrial ribosomal protein L12 selectively associates with human mitochondrial RNA polymerase to activate transcription. (PMID: 22003127) Surovtseva YV … Shadel GS (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. hNOA1 interacts with complex I and DAP3 and regulates mitochondrial respiration and apoptosis. (PMID: 19103604) Tang T … Farquhar MG (The Journal of biological chemistry 2009) 3 4 60
  5. Human mitochondrial ribosomal protein MRPL12 interacts directly with mitochondrial RNA polymerase to modulate mitochondrial gene expression. (PMID: 17337445) Wang Z … Shadel GS (The Journal of biological chemistry 2007) 3 22 60

Products for MRPL12 Gene

Sources for MRPL12 Gene

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