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    MRPL33 mitochondrial ribosomal protein L33 [ Homo sapiens (human) ]

    Gene ID: 9553, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MRPL33provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L33provided by HGNC
    Primary source
    HGNC:HGNC:14487
    See related
    Ensembl:ENSG00000243147 MIM:610059; AllianceGenome:HGNC:14487
    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
    L33mt; bL33m; C2orf1; RPL33L; MRP-L33
    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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 150.4), kidney (RPKM 51.5) and 23 other tissues See more
    Orthologs
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    Genomic context

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    See MRPL33 in Genome Data Viewer
    Location:
    2p23.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27771719..27779733)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27814872..27822886)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27994586..28002600)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27938889-27939403 Neighboring gene uncharacterized LOC105374378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27939404-27939917 Neighboring gene long intergenic non-protein coding RNA 1460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11305 Neighboring gene MPRA-validated peak3633 silencer Neighboring gene MPRA-validated peak3634 silencer Neighboring gene MPRA-validated peak3635 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27975487-27976105 Neighboring gene MPRA-validated peak3636 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27994581-27995397 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:28021515-28022714 Neighboring gene ribokinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11306 Neighboring gene BABAM2 antisense RNA 1 Neighboring gene BRISC and BRCA1 A complex member 2 Neighboring gene MYG1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Isoforms S and L of MRPL33 from alternative splicing have isoform‑specific roles in the chemoresponse to epirubicin in gastric cancer cells via the PI3K/AKT signaling pathway. Li J, et al. Int J Oncol, 2019 May. PMID 30816492, Free PMC Article
    2. MRPL33 and its splicing regulator hnRNPK are required for mitochondria function and implicated in tumor progression. Liu L, et al. Oncogene, 2018 Jan 4. PMID 28869607
    3. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Mao M, et al. Proc Natl Acad Sci U S A, 1998 Jul 7. PMID 9653160, Free PMC Article
    4. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Manning AK, et al. Nat Genet, 2012 May 13. PMID 22581228, Free PMC Article
    5. 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

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study revealed that isoforms S and L of MRPL33, which arise from alternative splicing, exhibited opposing roles in the chemoresponse to epirubicin in gastric cancer via the PI3K/AKT signaling pathway.
      Title: Isoforms S and L of MRPL33 from alternative splicing have isoform‑specific roles in the chemoresponse to epirubicin in gastric cancer cells via the PI3K/AKT signaling pathway.
    2. Study findings underscore the biological significance of MRPL33-L and hnRNPK in the tumor formation and identifies hnRNPK as a critical splicing regulator of MRPL33 pre-mRNA in cancer cells.
      Title: MRPL33 and its splicing regulator hnRNPK are required for mitochondria function and implicated in tumor progression.
    3. 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
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    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)

    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

    • MGC13694, MGC23922, MGC111093

    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 bL33m
    Names
    39S ribosomal protein L33, mitochondrial
    mitochondrial large ribosomal subunit protein bL33m
    NP_004882.1
    NP_663303.1

    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_004891.4 → NP_004882.1  large ribosomal subunit protein bL33m isoform a

      See identical proteins and their annotated locations for NP_004882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AA836397, BC020834, BC090047
      Consensus CDS
      CCDS1761.1
      UniProtKB/Swiss-Prot
      O75394, Q53RZ6, Q5FVE3, Q96Q50
      Related
      ENSP00000296102.3, ENST00000296102.8
      Conserved Domains (1) summary
      pfam00471
      Location:17 → 60
      Ribosomal_L33; Ribosomal protein L33

    2. NM_145330.3 → NP_663303.1  large ribosomal subunit protein bL33m isoform b

      See identical proteins and their annotated locations for NP_663303.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal segment, compared to variant 1, that causes a frameshift. It is not known if a protein product is made from this variant.
      Source sequence(s)
      BC090047
      Consensus CDS
      CCDS33167.1
      UniProtKB/Swiss-Prot
      O75394
      Related
      ENSP00000368988.3, ENST00000379666.7

    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
      27771719..27779733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27814872..27822886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75394.1 GenPept UniProtKB/Swiss-Prot:O75394

    Gene LinkOut

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

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