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MRPL40 mitochondrial ribosomal protein L40 [ Homo sapiens (human) ]

Gene ID: 64976, updated on 4-Oct-2020

Summary

Official Symbol
MRPL40provided by HGNC
Official Full Name
mitochondrial ribosomal protein L40provided by HGNC
Primary source
HGNC:HGNC:14491
See related
Ensembl:ENSG00000185608 MIM:605089
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
URIM; L40mt; NLVCF; MRPL22; MRP-L22; MRP-L40
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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 13.6), heart (RPKM 10.7) and 25 other tissues See more
Orthologs

Genomic context

See MRPL40 in Genome Data Viewer
Location:
22q11.21
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19432545..19436078)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19419302..19423600)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372859 Neighboring gene histone cell cycle regulator Neighboring gene RNA, 7SL, cytoplasmic 168, pseudogene Neighboring gene uncharacterized LOC105372860 Neighboring gene chromosome 22 open reading frame 39 Neighboring gene ubiquitin recognition factor in ER associated degradation 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9400, FLJ41774

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
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
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 
mitochondrial ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial ribosome ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
39S ribosomal protein L40, mitochondrial
Names
mitochondrial large ribosomal subunit protein mL40
nuclear localization signal-containing protein deleted in velocardiofacial syndrome
up-regulated in metastasis

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_001318151.2NP_001305080.1  39S ribosomal protein L40, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks the predicted mitochondrial transit peptide compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    BM974354, BX382916, CN409565
    Related
    ENST00000443660.5
    Conserved Domains (1) summary
    pfam09812
    Location:1139
    MRP-L28; Mitochondrial ribosomal protein L28
  2. NM_003776.4NP_003767.2  39S ribosomal protein L40, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_003767.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC009707
    Consensus CDS
    CCDS13760.1
    UniProtKB/Swiss-Prot
    Q9NQ50
    Related
    ENSP00000333401.3, ENST00000333130.3
    Conserved Domains (1) summary
    pfam09812
    Location:45199
    MRP-L28; Mitochondrial ribosomal protein L28

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    19432545..19436078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001318152.1: Suppressed sequence

    Description
    NM_001318152.1: This RefSeq was removed because currently there is insufficient support for the transcript.
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