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    MRPL45 mitochondrial ribosomal protein L45 [ Homo sapiens (human) ]

    Gene ID: 84311, updated on 3-May-2024

    Summary

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    Official Symbol
    MRPL45provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L45provided by HGNC
    Primary source
    HGNC:HGNC:16651
    See related
    Ensembl:ENSG00000278845 MIM:611850; AllianceGenome:HGNC:16651
    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
    Mba1; mL45; L45mt; MRP-L45
    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 2p and 17q. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.2), kidney (RPKM 15.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38297168..38323211)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39160147..39186117)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36453134..36479094)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NPEPPS pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36380303-36380804 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36399387-36399886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36413044-36413577 Neighboring gene uncharacterized LOC105371760 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36442025-36443224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36452469-36453018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36453019-36453569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36476257-36477193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36488638-36489138 Neighboring gene G protein-coupled receptor 179 Neighboring gene NANOG hESC enhancer GRCh37_chr17:36497214-36497738 Neighboring gene uncharacterized LOC124903991

    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
    • 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. Guanine Nucleotide-Binding Protein-Like 1 (GNL1) binds RNA G-quadruplex structures in genes associated with Parkinson's disease. Turcotte MA, et al. RNA Biol, 2021 Sep. PMID 33305682, Free PMC Article
    2. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Pharoah PD, et al. Nat Genet, 2013 Apr. PMID 23535730, Free PMC Article
    3. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article
    4. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, et al. J Biol Chem, 2001 Nov 23. PMID 11551941
    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 (62) 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
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC11321

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    large ribosomal subunit protein mL45
    Names
    39S ribosomal protein L45, mitochondrial
    mitochondrial large ribosomal subunit protein mL45

    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_001278279.3 → NP_001265208.2  large ribosomal subunit protein mL45 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC244092, AK293605, BC006235, BI767984, BP374871
      Consensus CDS
      CCDS74047.1
      UniProtKB/TrEMBL
      A0A087WU62, A0A0G2JMS5
      Related
      ENSP00000478397.1, ENST00000619548.1
      Conserved Domains (1) summary
      cl09208
      Location:119 → 212
      Tim44; Tim44-like domain

    2. NM_032351.6 → NP_115727.5  large ribosomal subunit protein mL45 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK293605, BC006235
      Consensus CDS
      CCDS11326.1
      UniProtKB/Swiss-Prot
      A1L436, Q6ZMJ5, Q9BRJ2
      UniProtKB/TrEMBL
      A0A087X2D5
      Related
      ENSP00000484903.1, ENST00000613675.5
      Conserved Domains (1) summary
      smart00978
      Location:121 → 262
      Tim44; Tim44 is an essential component of the machinery that mediates the translocation of nuclear-encoded proteins across the mitochondrial inner membrane

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38297168..38323211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2332199..2358159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39160147..39186117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRJ2.2 GenPept UniProtKB/Swiss-Prot:Q9BRJ2

    Gene LinkOut

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

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