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MRPL30 mitochondrial ribosomal protein L30 [ Homo sapiens (human) ]

Gene ID: 51263, updated on 3-May-2020

Summary

Official Symbol
MRPL30provided by HGNC
Official Full Name
mitochondrial ribosomal protein L30provided by HGNC
Primary source
HGNC:HGNC:14036
See related
Ensembl:ENSG00000185414 MIM:611838
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
L28MT; L30MT; MRPL28; RPML28; MRP-L28; MRP-L30; MRPL28M
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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]
Expression
Ubiquitous expression in thyroid (RPKM 6.7), brain (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See MRPL30 in Genome Data Viewer
Location:
2q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (99181184..99199561)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99797542..99816020)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene testis specific 10 Neighboring gene chromosome 2 open reading frame 15 Neighboring gene lipoyltransferase 1 Neighboring gene microtubule interacting and trafficking domain containing 1 Neighboring gene lysozyme g2 Neighboring gene lysozyme g1

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
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3314, FLJ44438, MGC24095

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural constituent of ribosome IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
39S ribosomal protein L30, mitochondrial
Names
39S ribosomal protein L28, mitochondrial
mitochondrial large ribosomal subunit protein uL30m

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_145212.4NP_660213.1  39S ribosomal protein L30, mitochondrial precursor

    See identical proteins and their annotated locations for NP_660213.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
    Source sequence(s)
    AC079447, AC092587, BC013822, BC022391, BU533068, DB353963
    Consensus CDS
    CCDS2041.1
    UniProtKB/Swiss-Prot
    Q8TCC3
    Related
    ENSP00000338057.3, ENST00000338148.8
    Conserved Domains (1) summary
    cd01658
    Location:67119
    Ribosomal_L30; Ribosomal protein L30, which is found in eukaryotes and prokaryotes but not in archaea, is one of the smallest ribosomal proteins with a molecular mass of about 7kDa. L30 binds the 23SrRNA as well as the 5S rRNA and is one of five ribosomal proteins that ...

RNA

  1. NR_028356.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' region, compared to variant 1. This transcript is predicted to be subject to nonsense-mediated decay (NMD), and therefore the coding sequence is not annotated on this record.
    Source sequence(s)
    AC079447, BC013822, BG532984, BU533068, DA310406, DB353963

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    99181184..99199561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016503.2: Suppressed sequence

    Description
    NM_016503.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_145213.2: Suppressed sequence

    Description
    NM_145213.2: This RefSeq was permanently suppressed because it is predicted to be subject to nonsense-mediated decay.
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