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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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