Human Gene MRPL48 (ENST00000310614.12_4) from GENCODE V47lift37
  Description: mitochondrial ribosomal protein L48, transcript variant 5 (from RefSeq NR_134658.2)
Gencode Transcript: ENST00000310614.12_4
Gencode Gene: ENSG00000175581.14_13
Transcript (Including UTRs)
   Position: hg19 chr11:73,498,919-73,576,178 Size: 77,260 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr11:73,499,017-73,575,415 Size: 76,399 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:73,498,919-73,576,178)mRNA (may differ from genome)Protein (212 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RM48_HUMAN
DESCRIPTION: RecName: Full=39S ribosomal protein L48, mitochondrial; Short=L48mt; Short=MRP-L48; Flags: Precursor;
SUBUNIT: Interacts with OXA1L (By similarity).
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
SEQUENCE CAUTION: Sequence=AAF28968.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.88 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 198.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.6098-0.373 Picture PostScript Text
3' UTR -288.80763-0.379 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001848 - Ribosomal_S10

Pfam Domains:
PF00338 - Ribosomal protein S10p/S20e

SCOP Domains:
54999 - Ribosomal protein S10

ModBase Predicted Comparative 3D Structure on Q96GC5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0070125 mitochondrial translational elongation
GO:0070126 mitochondrial translational termination

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005761 mitochondrial ribosome
GO:0005762 mitochondrial large ribosomal subunit
GO:0005840 ribosome


-  Descriptions from all associated GenBank mRNAs
  AF151876 - Homo sapiens CGI-118 protein mRNA, complete cds.
AF161408 - Homo sapiens HSPC290 mRNA, partial cds.
AK297746 - Homo sapiens cDNA FLJ60720 complete cds, highly similar to Homo sapiens mitochondrial ribosomal protein L48 (MRPL48), transcript variant 1, mRNA.
BC009764 - Homo sapiens mitochondrial ribosomal protein L48, mRNA (cDNA clone MGC:13323 IMAGE:4093230), complete cds.
AK309219 - Homo sapiens cDNA, FLJ99260.
AK310005 - Homo sapiens cDNA, FLJ17047.
CU679477 - Synthetic construct Homo sapiens gateway clone IMAGE:100017603 5' read MRPL48 mRNA.
HQ448682 - Synthetic construct Homo sapiens clone IMAGE:100072124; CCSB006379_01 mitochondrial ribosomal protein L48 (MRPL48) gene, encodes complete protein.
KJ898939 - Synthetic construct Homo sapiens clone ccsbBroadEn_08333 MRPL48 gene, encodes complete protein.
JD490298 - Sequence 471322 from Patent EP1572962.
JD068188 - Sequence 49212 from Patent EP1572962.
BC036501 - Homo sapiens mitochondrial ribosomal protein L48, mRNA (cDNA clone IMAGE:5265037), with apparent retained intron.
JD160431 - Sequence 141455 from Patent EP1572962.
JD081218 - Sequence 62242 from Patent EP1572962.
JD081219 - Sequence 62243 from Patent EP1572962.
JD043735 - Sequence 24759 from Patent EP1572962.
JD226986 - Sequence 208010 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96GC5 (Reactome details) participates in the following event(s):

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

-  Other Names for This Gene
  Alternate Gene Symbols: B4DN34, CGI-118, ENST00000310614.1, ENST00000310614.10, ENST00000310614.11, ENST00000310614.2, ENST00000310614.3, ENST00000310614.4, ENST00000310614.5, ENST00000310614.6, ENST00000310614.7, ENST00000310614.8, ENST00000310614.9, HSPC290, NR_134658, Q49AK7, Q4U2Q4, Q96GC5, Q9P091, Q9Y5J0, RM48_HUMAN, uc317oum.1, uc317oum.2
UCSC ID: ENST00000310614.12_4
RefSeq Accession: NM_016055.6
Protein: Q96GC5 (aka RM48_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.