Letm1 leucine zipper-EF-hand containing transmembrane protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Letm1provided by MGI
Official Full Name: leucine zipper-EF-hand containing transmembrane protein 1provided by MGI
Primary source: MGI:MGI:1932557
See related: Ensembl:ENSMUSG00000005299 AllianceGenome:MGI:1932557
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: KHE
Summary: Enables calcium:proton antiporter activity. Involved in calcium export from the mitochondrion; mitochondrial calcium ion homeostasis; and protein complex oligomerization. Located in mitochondrial inner membrane. Is expressed in brain; embryo; gonad; liver; and seminiferous cord. Orthologous to human LETM1 (leucine zipper and EF-hand containing transmembrane protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 18.7), colon adult (RPKM 16.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B2; 5 17.83 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (33897017..33940061, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (33739673..33782717, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This paper's findings delineate a mechanism by which PINK1 regulates mitochondrial Ca(2+) level through LETM1 and suggest a model by which PINK1 loss leads to deficient phosphorylation of LETM1 and impaired mitochondrial Ca(2+) transport.
Title: PINK1-mediated phosphorylation of LETM1 regulates mitochondrial calcium transport and protects neurons against mitochondrial stress.
Reconstitution of LETM1 or antioxidant overexpression rescued mitochondrial Ca(2+) transport and bioenergetics
Title: LETM1-dependent mitochondrial Ca2+ flux modulates cellular bioenergetics and proliferation.
Data indicate that cellular Letm1 knockdown reduced Ca(2+)mito uptake, H(+)mito extrusion and impaired mitochondrial ATP generation capacity.
Title: Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124489 (e-PCR)
- UniSTS:161311

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium:proton antiporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium:proton antiporter activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables ribosome binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium export from the mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium export from the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium export from the mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in cristae formation	IEA Inferred from Electronic Annotation more info
involved_in cristae formation	ISO Inferred from Sequence Orthology more info
involved_in inner mitochondrial membrane organization	ISO Inferred from Sequence Orthology more info
involved_in inner mitochondrial membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of mitochondrial calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of mitochondrial calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein hexamerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular hyperosmotic salinity response	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular hyperosmotic salinity response	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HDA 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
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mitochondrial proton/calcium exchanger protein

Names: LETM1 and EF-hand domain-containing protein 1, mitochondrial; electroneutral mitochondrial K(+)/H(+)exchanger

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_019694.2 → NP_062668.1 mitochondrial proton/calcium exchanger protein precursor

See identical proteins and their annotated locations for NP_062668.1

Status: VALIDATED

Source sequence(s)

AF061026, AK163499, BQ178952, BY110340, BY243359

Consensus CDS

CCDS19207.1

UniProtKB/Swiss-Prot

Q5PQC5, Q7TMK8, Q80ZX6, Q8CGJ3, Q8K5E5, Q9Z2I0

Related

ENSMUSP00000005431.6, ENSMUST00000005431.6

Conserved Domains (1) summary

pfam07766
Location:154 → 409

LETM1; LETM1-like protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

33897017..33940061 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006504034.5 → XP_006504097.1 mitochondrial proton/calcium exchanger protein isoform X1

Conserved Domains (1) summary

pfam07766
Location:2 → 237

LETM1; LETM1-like protein