Human Gene MRPL42 (uc001tcr.3) Description and Page Index
Description: Homo sapiens mitochondrial ribosomal protein L42 (MRPL42), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. RefSeq Summary (NM_172177): 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 protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.8610.1, SRR1803615.242807.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr12:93,861,266-93,897,548 Size: 36,283 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr12:93,863,062-93,894,997 Size: 31,936 Coding Exon Count: 5
ID:RM42_HUMAN DESCRIPTION: RecName: Full=39S ribosomal protein L42, mitochondrial; Short=L42mt; Short=MRP-L42; AltName: Full=28S ribosomal protein S32, mitochondrial; Short=MRP-S32; Short=S32mt; AltName: Full=39S ribosomal protein L31, mitochondrial; Short=L31mt; Short=MRP-L31; Flags: Precursor; SUBUNIT: Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins. SUBCELLULAR LOCATION: Mitochondrion. CAUTION: Has been found in the mitochondrial ribosome large and small subunits. Was erronously (PubMed:11551941) assigned to be MRP-S31. SEQUENCE CAUTION: Sequence=AAF36124.1; Type=Frameshift; Positions=Several;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MRPL42 CDC HuGE Published Literature: MRPL42 Positive Disease Associations: height Related Studies:
height Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF10210 - Mitochondrial 28S ribosomal protein S32
ModBase Predicted Comparative 3D Structure on Q9Y6G3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-5389839 39S subunit binds 28S subunit:mRNA:fMet-tRNA R-HSA-5419273 Hydrolysis of GTP and dissociation of 28S and 39S subunits R-HSA-5389848 TUFM:GTP:aminoacyl-tRNA binds 55S ribosome:mRNA:fMet-tRNA R-HSA-5389857 Peptide transfer from P-site to A-site (peptide bond formation) R-HSA-5389842 TUFM hydrolyzes GTP and TUFM:GDP dissociates from 55S ribosome R-HSA-5419261 55S ribosome with peptidyl-tRNA in A site binds GFM1:GTP R-HSA-5419281 MRRF binds 55S ribosome:mRNA:tRNA R-HSA-5419279 Translocation of peptidyl-tRNA from A-site to P-site (and translocation of 55S ribosome by 3 bases along mRNA) R-HSA-5419264 MTRF1L (MTRF1a) or ICT1 binds stop codon in 55S ribosome:mRNA:peptidyl-tRNA R-HSA-5419277 GFM2:GTP binds 55S ribosome:mRNA:tRNA:MRRF releasing mRNA and tRNA R-HSA-5368286 Mitochondrial translation initiation R-HSA-5419276 Mitochondrial translation termination R-HSA-5368287 Mitochondrial translation R-HSA-5389840 Mitochondrial translation elongation R-HSA-72766 Translation R-HSA-392499 Metabolism of proteins