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

Gene ID: 84311, updated on 7-Jun-2020

Summary

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
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
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

Genomic context

See MRPL45 in Genome Data Viewer
Location:
17q12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (38297023..38323218)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36452989..36479101)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NPEPPS pseudogene 1 Neighboring gene uncharacterized LOC105371760 Neighboring gene G protein-coupled receptor 179 Neighboring gene suppressor of cytokine signaling 7

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC11321

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001278279.2NP_001265208.2  39S ribosomal protein L45, mitochondrial 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, B4DEF8
    Related
    ENSP00000478397.1, ENST00000619548.1
    Conserved Domains (1) summary
    cl09208
    Location:119212
    Tim44; Tim44-like domain
  2. NM_032351.6NP_115727.5  39S ribosomal protein L45, mitochondrial 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/TrEMBL
    A0A087X2D5, B4DEF8
    Related
    ENSP00000484903.1, ENST00000613675.5
    Conserved Domains (1) summary
    pfam04280
    Location:119262
    Tim44; Tim44-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    38297023..38323218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    2332054..2358166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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