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

Gene ID: 51263, updated on 28-Oct-2024

Summary

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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; AllianceGenome:HGNC:14036
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; uL30m; 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
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Genomic context

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See MRPL30 in Genome Data Viewer
Location:
2q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (99181184..99199561)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (99640062..99658443)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99797647..99816024)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene testis specific 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99758101-99758907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99771037-99771658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16277 Neighboring gene chromosome 2 open reading frame 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16280 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99797856-99798028 Neighboring gene lipoyltransferase 1 Neighboring gene microtubule interacting and trafficking domain containing 1 Neighboring gene lysozyme g2 Neighboring gene uncharacterized LOC107985923 Neighboring gene lysozyme g1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration. Coelho JPL, et al. Nat Commun, 2019 Feb 8. PMID 30737405, Free PMC Article
  2. Mammalian mitochondrial ribosomal proteins. N-terminal amino acid sequencing, characterization, and identification of corresponding gene sequences. Goldschmidt-Reisin S, et al. J Biol Chem, 1998 Dec 25. PMID 9857009
  3. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634
  4. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Psychiatric GWAS Consortium Bipolar Disorder Working Group. Nat Genet, 2011 Sep 18. PMID 21926972, Free PMC Article
  5. Structures of the human mitochondrial ribosome in native states of assembly. Brown A, et al. Nat Struct Mol Biol, 2017 Oct. PMID 28892042, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3314, FLJ44438, MGC24095

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables structural constituent of ribosome IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in mitochondrial translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial large ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_145212.4 → NP_660213.1  large ribosomal subunit protein uL30m 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
    A6NIC6, D3DVI0, D3DVI3, Q0D2Q7, Q6ZTP4, Q8TCC3, Q96Q69, Q9P0N0
    Related
    ENSP00000338057.3, ENST00000338148.8
    Conserved Domains (1) summary
    cd01658
    Location:67 → 119
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    99640062..99658443
    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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TCC3.1 GenPept UniProtKB/Swiss-Prot:Q8TCC3

Gene LinkOut

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Chemical Information
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Research Materials
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