Mrpl40 mitochondrial ribosomal protein L40 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mrpl40provided by MGI
Official Full Name: mitochondrial ribosomal protein L40provided by MGI
Primary source: MGI:MGI:1332635
See related: Ensembl:ENSMUSG00000022706 AllianceGenome:MGI:1332635
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nlvcf
Summary: Located in mitochondrion. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; gonad; and limb bud. Orthologous to human MRPL40 (mitochondrial ribosomal protein L40). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 15.1), CNS E11.5 (RPKM 12.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 11.69 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (18690767..18695875, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (18872018..18876637, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two-photon imaging of the genetically encoded fluorescent calcium indicator GCaMP6, expressed in presynaptic cytosol or mitochondria, showed that Mrpl40 haploinsufficiency deregulates STP via impaired calcium extrusion from the mitochondrial matrix through the mitochondrial permeability transition pore.
Title: Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Mrpl40 (e-PCR), detects polymorphism
- UniSTS:265728

NoName (e-PCR)
- UniSTS:237460

Mrpl40 (e-PCR), detects polymorphism
- UniSTS:496804

AF034092 (e-PCR)
- UniSTS:163567

Hira (e-PCR), detects polymorphism
- UniSTS:143346

Homology

Homologs of the Mrpl40 gene: The Mrpl40 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 500 organisms have orthologs with human gene Mrpl40
Orthologs

Gene Ontology Provided by MGI

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
part_of mitochondrial large ribosomal subunit	ISO Inferred from Sequence Orthology more info
part_of mitochondrial large ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
is_active_in mitochondrial ribosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrial ribosome	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in ribosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 39S ribosomal protein L40, mitochondrial

Names: L40mt; MRP-L40; nuclear localization signal protein absent in velo-cardio-facial patients; nuclear localization signal-containing protein deleted in velocardiofacial syndrome homolog

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)

NM_010922.2 → NP_035052.2 39S ribosomal protein L40, mitochondrial precursor

See identical proteins and their annotated locations for NP_035052.2

Status: VALIDATED

Source sequence(s)

AA240860, AK145885

Consensus CDS

CCDS28030.1

UniProtKB/Swiss-Prot

Q9CS52, Q9Z2Q5

UniProtKB/TrEMBL

Q3UKS6

Related

ENSMUSP00000023391.9, ENSMUST00000023391.16

Conserved Domains (1) summary

pfam09812
Location:45 → 182

MRP-L28; Mitochondrial ribosomal protein L28

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

18690767..18695875 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159817.1 → XP_036015710.1 39S ribosomal protein L40, mitochondrial isoform X1

UniProtKB/TrEMBL

D3Z7C0

Related

ENSMUSP00000113065.2, ENSMUST00000119273.2

Conserved Domains (1) summary

pfam09812
Location:1 → 155

MRP-L28; Mitochondrial ribosomal protein L28