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MRPL4 mitochondrial ribosomal protein L4 [ Homo sapiens (human) ]

Gene ID: 51073, updated on 6-Jan-2019

Summary

Official Symbol
MRPL4provided by HGNC
Official Full Name
mitochondrial ribosomal protein L4provided by HGNC
Primary source
HGNC:HGNC:14276
See related
Ensembl:ENSG00000105364 MIM:611823
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
L4mt; CGI-28
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. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 9.6), fat (RPKM 9.1) and 25 other tissues See more
Orthologs

Genomic context

See MRPL4 in Genome Data Viewer
Location:
19p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (10251962..10260060)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10362640..10370736)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 10 pseudogene Neighboring gene sphingosine-1-phosphate receptor 2 Neighboring gene microRNA 4322 Neighboring gene uncharacterized LOC105372272 Neighboring gene intercellular adhesion molecule 1 Neighboring gene intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

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

Bibliography

Pathways from BioSystems

  • Mitochondrial translation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
  • Mitochondrial translation elongation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation elongation, organism-specific biosystemTranslation elongation proceeds by cycles of aminoacyl-tRNAs binding, peptide bond formation, and displacement of deacylated tRNAs (reviewed in Christian and Spremulli 2012). In each cycle an aminoac...
  • Mitochondrial translation initiation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation initiation, organism-specific biosystemTranslation initiates with the mitochondrial mRNA binding the 28S subunit:MTIF3 (28S subunit:IF-3Mt, 28S subunit:IF3mt) complex together with MTIF2:GTP (IF-2Mt:GTP, IF2mt:GTP) (reviewed in Christian ...
  • Mitochondrial translation termination, organism-specific biosystem (from REACTOME)
    Mitochondrial translation termination, organism-specific biosystemTranslation is terminated when MTRF1L:GTP (MTRF1a:GTP) recognizes a UAA or UAG termination codon in the mRNA at the A site of the ribosome (Soleimanpour-Lichaei et al. 2007, reviewed in Richter et al...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Ribosome, organism-specific biosystem (from KEGG)
    Ribosome, organism-specific biosystem
    Ribosome
  • Ribosome, conserved biosystem (from KEGG)
    Ribosome, conserved biosystem
    Ribosome

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2681, MGC16367

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
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 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
39S ribosomal protein L4, mitochondrial
Names
MRP-L4
mitochondrial large ribosomal subunit protein uL4m
NP_057040.2
NP_666499.1
NP_666500.1
XP_011526347.1

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_015956.2NP_057040.2  39S ribosomal protein L4, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_057040.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript and it encodes the same isoform (a) as variant 2.
    Source sequence(s)
    BC009858, BG325905
    Consensus CDS
    CCDS12230.1
    UniProtKB/Swiss-Prot
    Q9BYD3
    UniProtKB/TrEMBL
    A0A024R7C5
    Related
    ENSP00000253099.5, ENST00000253099.10
    Conserved Domains (1) summary
    pfam00573
    Location:81272
    Ribosomal_L4; Ribosomal protein L4/L1 family
  2. NM_146387.1NP_666499.1  39S ribosomal protein L4, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_666499.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    BC009858, BG758801
    Consensus CDS
    CCDS12230.1
    UniProtKB/Swiss-Prot
    Q9BYD3
    UniProtKB/TrEMBL
    A0A024R7C5
    Related
    ENSP00000306902.5, ENST00000307422.9
    Conserved Domains (1) summary
    pfam00573
    Location:81272
    Ribosomal_L4; Ribosomal protein L4/L1 family
  3. NM_146388.1NP_666500.1  39S ribosomal protein L4, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_666500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes an isoform (b) which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC011511
    Consensus CDS
    CCDS42499.1
    UniProtKB/Swiss-Prot
    Q9BYD3
    Related
    ENSP00000465143.1, ENST00000590669.5
    Conserved Domains (1) summary
    pfam00573
    Location:81247
    Ribosomal_L4; Ribosomal protein L4/L1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    10251962..10260060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528045.3XP_011526347.1  39S ribosomal protein L4, mitochondrial isoform X1

    UniProtKB/TrEMBL
    X6RAY8
    Related
    ENSP00000377334.2, ENST00000393733.6
    Conserved Domains (1) summary
    pfam00573
    Location:81245
    Ribosomal_L4; Ribosomal protein L4/L1 family
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