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Aliases for MRPL12 Gene

Aliases for MRPL12 Gene

  • Mitochondrial Ribosomal Protein L12 2 3
  • RPML12 3 4 6
  • MRP-L12 3 4
  • 5c5-2 3 4
  • L12mt 3 4
  • 39S Ribosomal Protein L12, Mitochondrial 3
  • MRP-L31/34 3
  • MRPL7/L12 3
  • MRPL7 3

External Ids for MRPL12 Gene

Previous Symbols for MRPL12 Gene

  • RPML12

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. Among its related pathways are CFTR translational fidelity (class I mutations). GO annotations related to this gene include RNA binding and structural constituent of ribosome.

Gene Wiki entry for MRPL12 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL12 Gene

Genomics for MRPL12 Gene

Genomic Location for MRPL12 Gene

Start:
81,703,357 bp from pter
End:
81,707,526 bp from pter
Size:
4,170 bases
Orientation:
Plus strand

Genomic View for MRPL12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MRPL12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL12 Gene

Regulatory Elements 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:
    • Interacts with NOA1.
    SequenceCaution:
    • Sequence=AAD16894.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for MRPL12 Gene

Proteomics data for MRPL12 Gene at MOPED

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 for MRPL12 Gene

Gene Families for MRPL12 Gene

HGNC:
  • MRPL :Mitochondrial ribosomal proteins / large subunits

UniProtKB/Swiss-Prot:

RM12_HUMAN
Family:
  • Belongs to the ribosomal protein L7/L12P family.:
    • P52815
genes like me logo Genes that share domains with MRPL12: view

Function 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 --
GO:0005515 protein binding IPI 17337445
genes like me logo Genes that share ontologies with MRPL12: view

miRNA for MRPL12 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for MRPL12 Gene

Localization for MRPL12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL12 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MRPL12 Gene COMPARTMENTS Subcellular localization image for MRPL12 gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for MRPL12 Gene

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

Pathways for MRPL12 Gene

SuperPathways for MRPL12 Gene

Superpath Contained pathways
1 CFTR translational fidelity (class I mutations)
.54
genes like me logo Genes that share pathways with MRPL12: view

Pathways by source for MRPL12 Gene

1 KEGG pathway for MRPL12 Gene

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 --
GO:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 17337445
genes like me logo Genes that share ontologies with MRPL12: view

Transcripts for MRPL12 Gene

mRNA/cDNA for MRPL12 Gene

Unigene Clusters for MRPL12 Gene

Mitochondrial ribosomal protein L12:
Representative Sequences:

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 for MRPL12 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MRPL12 Gene

SOURCE GeneReport for Unigene cluster for MRPL12 Gene Hs.109059

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

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 36
  • 99.66 (n)
  • 99.49 (a)
cow
(Bos Taurus)
Mammalia MRPL12 36
  • 86.2 (n)
  • 85.86 (a)
dog
(Canis familiaris)
Mammalia MRPL12 36
  • 87.37 (n)
  • 87.88 (a)
mouse
(Mus musculus)
Mammalia Mrpl12 36
  • 83.67 (n)
  • 84.85 (a)
Mrpl12 16
Mrpl12 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL12 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL12 37
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl12 36
  • 82.83 (n)
  • 82.83 (a)
chicken
(Gallus gallus)
Aves MRPL12 36
  • 70.78 (n)
  • 69.14 (a)
lizard
(Anolis carolinensis)
Reptilia MRPL12 37
  • 57 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24066 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl12 36
  • 64.27 (n)
  • 64.67 (a)
Str.1933 36
zebrafish
(Danio rerio)
Actinopterygii Dr.9805 36
mrpl12 36
  • 64.51 (n)
  • 61.76 (a)
mrpl12 37
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011581 36
  • 53.53 (n)
  • 43.8 (a)
fruit fly
(Drosophila melanogaster)
Insecta mRpL12 36
  • 54.64 (n)
  • 39.85 (a)
mRpL12 37
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-12 36
  • 52.17 (n)
  • 45.65 (a)
mrpl-12 37
  • 39 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL089C 36
  • 56.57 (n)
  • 47.73 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNP1 36
  • 52.97 (n)
  • 49.61 (a)
MNP1 37
  • 38 (a)
OneToOne
MNP1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03212g 36
  • 52.32 (n)
  • 46.36 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06469 36
  • 55.77 (n)
  • 46.15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC4B3.09c 36
  • 46.56 (n)
  • 40.46 (a)
Species with no ortholog for MRPL12:
  • 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

Selected 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 MAF
rs10560 -- 81,707,345(+) GGAGC(C/T)GTTTG utr-variant-3-prime
rs1132802 -- 81,703,243(+) AAACC(C/T)GGCGG upstream-variant-2KB
rs1132803 -- 81,703,356(+) GAGGT(A/G)CGGCT upstream-variant-2KB
rs7503103 -- 81,707,606(+) GCTGC(A/G)GGGCC downstream-variant-500B
rs7503172 -- 81,707,914(+) AACCC(A/G)GCCAC downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
esv26223 CNV Gain+Loss 19812545
nsv828128 CNV Loss 20364138
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3330n71 CNV Loss 21882294
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
nsv909109 CNV Loss 21882294
dgv3333n71 CNV Loss 21882294
nsv909116 CNV Loss 21882294
dgv3334n71 CNV Loss 21882294
dgv3335n71 CNV Loss 21882294
dgv3336n71 CNV Loss 21882294
nsv909126 CNV Loss 21882294

Relevant External Links for MRPL12 Gene

HapMap Linkage Disequilibrium report
MRPL12
Human Gene Mutation Database (HGMD)
MRPL12

Disorders for MRPL12 Gene

Relevant External Links for MRPL12

Genetic Association Database (GAD)
MRPL12
Human Genome Epidemiology (HuGE) Navigator
MRPL12
genes like me logo Genes that share disorders with MRPL12: view

No data available for UniProtKB/Swiss-Prot 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. (J. Biol. Chem. 1996) 2 3 4 23
  2. Human mitochondrial ribosomal protein MRPL12 interacts directly with mitochondrial RNA polymerase to modulate mitochondrial gene expression. (PMID: 17337445) Wang Z. … Shadel G.S. (J. Biol. Chem. 2007) 3 23
  3. Expression and human chromosomal localization to 17q25 of the growth-regulated gene encoding the mitochondrial ribosomal protein MRPL12. (PMID: 9169145) Marty L. … Fort P. (Genomics 1997) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. hNOA1 interacts with complex I and DAP3 and regulates mitochondrial respiration and apoptosis. (PMID: 19103604) Tang T. … Farquhar M.G. (J. Biol. Chem. 2009) 3 4

Products for MRPL12 Gene

Sources for MRPL12 Gene

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