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

Gene ID: 84311, updated on 5-Mar-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
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Genomic context

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See MRPL45 in Genome Data Viewer
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 
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 
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 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

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