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Aliases for LETM1 Gene

Aliases for LETM1 Gene

  • Leucine Zipper And EF-Hand Containing Transmembrane Protein 1 2 3
  • Leucine Zipper-EF-Hand Containing Transmembrane Protein 1 2 5
  • Leucine Zipper-EF-Hand-Containing Transmembrane Protein 1 4
  • Mdm38 Homolog (Yeast) 2

External Ids for LETM1 Gene

Previous GeneCards Identifiers for LETM1 Gene

  • GC04M001807
  • GC04M001794
  • GC04M001776

Summaries for LETM1 Gene

Entrez Gene Summary for LETM1 Gene

  • This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]

GeneCards Summary for LETM1 Gene

LETM1 (Leucine Zipper And EF-Hand Containing Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with LETM1 include Wolf-Hirschhorn Syndrome and Chromosomal Deletion Syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is LETM2.

UniProtKB/Swiss-Prot for LETM1 Gene

  • Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain. Required for the maintenance of the tubular shape and cristae organization.

Gene Wiki entry for LETM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LETM1 Gene

Genomics for LETM1 Gene

Regulatory Elements for LETM1 Gene

Enhancers for LETM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LETM1 on UCSC Golden Path with GeneCards custom track

Promoters for LETM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LETM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LETM1 Gene

1,811,479 bp from pter
1,856,247 bp from pter
44,769 bases
Minus strand

Genomic View for LETM1 Gene

Genes around LETM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LETM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LETM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LETM1 Gene

Proteins for LETM1 Gene

  • Protein details for LETM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    LETM1 and EF-hand domain-containing protein 1, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4DED2
    • Q9UF65

    Protein attributes for LETM1 Gene

    739 amino acids
    Molecular mass:
    83354 Da
    Quaternary structure:
    • Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa). Interacts with BCS1L.
    • Sequence=CAB63769.2; Type=Erroneous translation; Note=Incomplete prediction of CDS at the C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for LETM1 Gene


neXtProt entry for LETM1 Gene

Proteomics data for LETM1 Gene at MOPED

Post-translational modifications for LETM1 Gene

  • Ubiquitination at Lys 292
  • Modification sites at PhosphoSitePlus

Other Protein References for LETM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LETM1 Gene

Domains & Families for LETM1 Gene

Gene Families for LETM1 Gene

Protein Domains for LETM1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 EF-hand domain.
  • Contains 1 EF-hand domain.
  • Contains 1 Letm1 RBD (ribosome-binding) domain.
genes like me logo Genes that share domains with LETM1: view

Function for LETM1 Gene

Molecular function for LETM1 Gene

GENATLAS Biochemistry:
putative EF-hand calcium binding protein,ubiquitously expressed,highly conserved,flanking the Wolf-Hirschhorn critical region and deleted in most patients with the syndrome and putative contributor to the phenotype
UniProtKB/Swiss-Prot Function:
Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain. Required for the maintenance of the tubular shape and cristae organization.
genes like me logo Genes that share phenotypes with LETM1: view

Human Phenotype Ontology for LETM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for LETM1 Gene

Localization for LETM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LETM1 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Subcellular locations from

Jensen Localization Image for LETM1 Gene COMPARTMENTS Subcellular localization image for LETM1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LETM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA,IDA 18628306
genes like me logo Genes that share ontologies with LETM1: view

Pathways & Interactions for LETM1 Gene

SuperPathways for LETM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LETM1 Gene


No data available for Pathways by source and SIGNOR curated interactions for LETM1 Gene

Drugs & Compounds for LETM1 Gene

No Compound Related Data Available

Transcripts for LETM1 Gene

Unigene Clusters for LETM1 Gene

Leucine zipper-EF-hand containing transmembrane protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LETM1 Gene

No ASD Table

Relevant External Links for LETM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LETM1 Gene

mRNA expression in normal human tissues for LETM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LETM1 Gene

This gene is overexpressed in Brain (9.8) and Nasal epithelium (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LETM1 Gene

SOURCE GeneReport for Unigene cluster for LETM1 Gene Hs.120165

genes like me logo Genes that share expression patterns with LETM1: view

Protein tissue co-expression partners for LETM1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LETM1 Gene

Orthologs for LETM1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LETM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LETM1 35
  • 84.38 (n)
  • 86 (a)
LETM1 36
  • 86 (a)
(Canis familiaris)
Mammalia LETM1 35
  • 84.55 (n)
  • 85.85 (a)
LETM1 36
  • 86 (a)
(Mus musculus)
Mammalia Letm1 35
  • 82.77 (n)
  • 83.85 (a)
Letm1 16
Letm1 36
  • 84 (a)
(Pan troglodytes)
Mammalia LETM1 35
  • 98.76 (n)
  • 98.69 (a)
LETM1 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Letm1 35
  • 81.98 (n)
  • 83.57 (a)
(Monodelphis domestica)
Mammalia LETM1 36
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia LETM1 36
  • 72 (a)
(Gallus gallus)
Aves LETM1 35
  • 68.93 (n)
  • 75.42 (a)
LETM1 36
  • 71 (a)
(Anolis carolinensis)
Reptilia LETM1 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia letm1 35
  • 65.35 (n)
  • 70.24 (a)
Str.2394 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13372 35
(Danio rerio)
Actinopterygii letm1 35
  • 67.89 (n)
  • 67.6 (a)
letm1 36
  • 62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4589 37
  • 40 (a)
Letm1 36
  • 24 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003296 35
  • 58.45 (n)
  • 46.99 (a)
(Caenorhabditis elegans)
Secernentea F58G11.1a 37
  • 38 (a)
F58G11.1b 37
  • 38 (a)
letm-1 35
  • 48.56 (n)
  • 42.81 (a)
letm-1 36
  • 30 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR032W 35
  • 51.56 (n)
  • 39.77 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11341g 35
  • 46.09 (n)
  • 41.98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YLH47 35
  • 43.23 (n)
  • 32.99 (a)
MDM38 36
  • 28 (a)
YLH47 36
  • 29 (a)
MDM38 38
bread mold
(Neurospora crassa)
Ascomycetes NCU03217 35
  • 51.53 (n)
  • 44.21 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mdm28 35
  • 46.48 (n)
  • 39.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
Species with no ortholog for LETM1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LETM1 Gene

Gene Tree for LETM1 (if available)
Gene Tree for LETM1 (if available)

Paralogs for LETM1 Gene

Paralogs for LETM1 Gene

(1) SIMAP similar genes for LETM1 Gene using alignment to 2 proteins: Pseudogenes for LETM1 Gene

genes like me logo Genes that share paralogs with LETM1: view

Variants for LETM1 Gene

Sequence variations from dbSNP and Humsavar for LETM1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1003661 -- 1,857,451(-) GCCGC(A/G)GAGAA upstream-variant-2KB
rs2001193 -- 1,850,225(-) CAGAA(A/C)TGGCT intron-variant
rs2402486 -- 1,857,452(-) TGCCG(C/G/T)GGAGA upstream-variant-2KB
rs2402494 -- 1,853,050(-) TGGGG(C/T)GTGTG intron-variant
rs4242021 -- 1,814,157(+) GGCCC(A/G)GCCCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LETM1 Gene

Variant ID Type Subtype PubMed ID
nsv878328 CNV Loss 21882294
nsv878347 CNV Loss 21882294
dgv5408n71 CNV Loss 21882294
nsv822437 CNV Loss 20364138
dgv5414n71 CNV Loss 21882294
dgv1565e1 CNV Complex 17122850
nsv428434 CNV Gain 18775914
nsv508989 CNV Insertion 20534489
dgv5415n71 CNV Loss 21882294
dgv5416n71 CNV Loss 21882294
nsv878400 CNV Loss 21882294
nsv829836 CNV Loss 17160897
nsv822440 CNV Gain 20364138

Variation tolerance for LETM1 Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.09; 69.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LETM1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LETM1 Gene

Disorders for LETM1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LETM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolf-hirschhorn syndrome
  • 4p deletion syndrome
chromosomal deletion syndrome
chromosomal disease
  • chromosomal disorders
- elite association - COSMIC cancer census association via MalaCards
Search LETM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LETM1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LETM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LETM1 Gene

Publications for LETM1 Gene

  1. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. (PMID: 10486213) Endele S. … Winterpacht A. (Genomics 1999) 2 3 4 67
  2. Regulation of OPA1-mediated mitochondrial fusion by leucine zipper/EF-hand-containing transmembrane protein-1 plays a role in apoptosis. (PMID: 19168126) Piao L. … Park J. (Cell. Signal. 2009) 3 23
  3. Clinical implication of leucine zipper/EF hand-containing transmembrane-1 overexpression in the prognosis of triple-negative breast cancer. (PMID: 25617527) Wang C.A. … Piao L. (Exp. Mol. Pathol. 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for LETM1 Gene

Sources for LETM1 Gene