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    MRPL1 mitochondrial ribosomal protein L1 [ Homo sapiens (human) ]

    Gene ID: 65008, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MRPL1provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L1provided by HGNC
    Primary source
    HGNC:HGNC:14275
    See related
    Ensembl:ENSG00000169288 MIM:611821; AllianceGenome:HGNC:14275
    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
    L1MT; uL1m; BM022; MRP-L1
    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 that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 8.5), heart (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL1 in Genome Data Viewer
    Location:
    4q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (77862830..77952785)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (81202852..81293608)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (78783984..78873939)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21639 Neighboring gene CCR4-NOT transcription complex subunit 6 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:78691877-78692518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21640 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:78781972-78782187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21642 Neighboring gene uncharacterized LOC102724916 Neighboring gene serine and arginine rich splicing factor 10 pseudogene Neighboring gene high mobility group box 1 pseudogene 44

    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. Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing. Mäki-Nevala S, et al. Lung, 2016 Feb. PMID 26463840
    2. 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
    3. Cold-inducible RBM3 inhibits PERK phosphorylation through cooperation with NF90 to protect cells from endoplasmic reticulum stress. Zhu X, et al. FASEB J, 2016 Feb. PMID 26472337
    4. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877
    5. Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria. Suzuki T, et al. J Biol Chem, 2001 Jun 15. PMID 11279069

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MLRP1 could possibly serve as a candidate gene for alterations associated with asbestos exposure.
      Title: Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ96680

    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 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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein uL1m
    Names
    39S ribosomal protein L1, mitochondrial
    mitochondrial large ribosomal subunit protein uL1m

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_020236.4 → NP_064621.3  large ribosomal subunit protein uL1m precursor

      See identical proteins and their annotated locations for NP_064621.3

      Status: REVIEWED

      Source sequence(s)
      BC014356, BU675164
      Consensus CDS
      CCDS3583.2
      UniProtKB/Swiss-Prot
      A6NG03, Q4W5B8, Q6IAG4, Q96BW3, Q9BYD6, Q9H793, Q9NRL5
      UniProtKB/TrEMBL
      A0PJ79
      Related
      ENSP00000315017.8, ENST00000315567.13
      Conserved Domains (1) summary
      TIGR01170
      Location:97 → 240
      rplA_mito; ribosomal protein uL1, mitochondrial

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      77862830..77952785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416089.1 → XP_047272045.1  large ribosomal subunit protein uL1m isoform X1

    2. XM_047416090.1 → XP_047272046.1  large ribosomal subunit protein uL1m isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      81202852..81293608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350733.1 → XP_054206708.1  large ribosomal subunit protein uL1m isoform X3

      UniProtKB/Swiss-Prot
      A6NG03, Q4W5B8, Q6IAG4, Q96BW3, Q9BYD6, Q9H793, Q9NRL5

    2. XM_054350735.1 → XP_054206710.1  large ribosomal subunit protein uL1m isoform X2

    3. XM_054350734.1 → XP_054206709.1  large ribosomal subunit protein uL1m isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYD6.2 GenPept UniProtKB/Swiss-Prot:Q9BYD6

    Gene LinkOut

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

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