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

Gene ID: 9553, updated on 8-Aug-2021

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
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; 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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27771719..27779733)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27994586..28002600)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374378 Neighboring gene long intergenic non-protein coding RNA 1460 Neighboring gene ribokinase 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: 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. 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 (28) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

Associated conditions

Description Tests
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available

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

  • 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 translation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
39S ribosomal protein L33, mitochondrial
Names
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  39S ribosomal protein L33, mitochondrial 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
    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  39S ribosomal protein L33, mitochondrial 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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27771719..27779733
    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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