Format

Send to:

Choose Destination

MRPL48 mitochondrial ribosomal protein L48 [ Homo sapiens (human) ]

Gene ID: 51642, updated on 21-Dec-2019

Summary

Official Symbol
MRPL48provided by HGNC
Official Full Name
mitochondrial ribosomal protein L48provided by HGNC
Primary source
HGNC:HGNC:16653
See related
Ensembl:ENSG00000175581 MIM:611853
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
L48MT; CGI-118; HSPC290; MRP-L48
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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in thyroid (RPKM 9.1), colon (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See MRPL48 in Genome Data Viewer
Location:
11q13.4
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (73787874..73865133)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73498917..73575656)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RAB6A, member RAS oncogene family Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr11.4166 Neighboring gene RN7SK pseudogene 243 Neighboring gene coiled-coil domain containing 58 pseudogene 5 Neighboring gene cytochrome c oxidase assembly factor 4 homolog Neighboring gene proteasomal ATPase associated factor 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17047, FLJ99260, MGC13323

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial ribosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
39S ribosomal protein L48, mitochondrial
Names
mitochondrial large ribosomal subunit protein mL48

NCBI Reference Sequences (RefSeq)

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_001318498.2NP_001305427.1  39S ribosomal protein L48, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and contains another alternate exon compared to variant 2. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AK297746, AP002770, BQ446725
    UniProtKB/Swiss-Prot
    Q96GC5
    Conserved Domains (1) summary
    pfam00338
    Location:74168
    Ribosomal_S10; Ribosomal protein S10p/S20e
  2. NM_001318499.2NP_001305428.1  39S ribosomal protein L48, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    AK297746, AP002770, BP210564, BQ446725
    UniProtKB/Swiss-Prot
    Q96GC5
    Conserved Domains (1) summary
    pfam00338
    Location:133227
    Ribosomal_S10; Ribosomal protein S10p/S20e
  3. NM_001318500.2NP_001305429.1  39S ribosomal protein L48, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three alternate coding exons compared to variant 2. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 2.
    Source sequence(s)
    AK297746, AP002770, BQ446725, BU600573
    Consensus CDS
    CCDS81594.1
    UniProtKB/Swiss-Prot
    Q96GC5
    UniProtKB/TrEMBL
    F5H8D0
    Related
    ENSP00000443685.1, ENST00000542303.5
    Conserved Domains (1) summary
    cl00314
    Location:5995
    Ribosomal_S10; Ribosomal protein S10p/S20e
  4. NM_016055.6NP_057139.1  39S ribosomal protein L48, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_057139.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 2.
    Source sequence(s)
    AP002770, BC009764, CF529680, DA549653
    Consensus CDS
    CCDS44676.1
    UniProtKB/Swiss-Prot
    Q96GC5
    Related
    ENSP00000308717.7, ENST00000310614.12
    Conserved Domains (1) summary
    pfam00338
    Location:92187
    Ribosomal_S10; Ribosomal protein S10p/S20e

RNA

  1. NR_134658.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297746, AP002770, BI549412, BQ446725
    Related
    ENST00000508278.6
  2. NR_134659.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon and contains two other alternate exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297746, AK310005, AP002770, BQ446725
  3. NR_134660.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon and contains another alternate exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297746, AP002770, BQ446725, BX354271
  4. NR_134661.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks three alternate exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297746, AP002770, BQ446725, CF541319

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    73787874..73865133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017919.1XP_016873408.1  39S ribosomal protein L48, mitochondrial isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001030046.1: Suppressed sequence

    Description
    NM_001030046.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center