Details for: LETM1

Gene ID: 3954

Symbol: LETM1

Ensembl ID: ENSG00000168924

Description: leucine zipper and EF-hand containing transmembrane protein 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.41
    Marker Score: 5447
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.32
    Marker Score: 2782
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.29
    Marker Score: 3038
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.15
    Marker Score: 1652
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.11
    Marker Score: 3477
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.07
    Marker Score: 5144
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.05
    Marker Score: 16441
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.03
    Marker Score: 697
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71707
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47931
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30393
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.98
    Marker Score: 1081
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.97
    Marker Score: 8290
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.96
    Marker Score: 643
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.94
    Marker Score: 1183
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.94
    Marker Score: 743
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2396
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.94
    Marker Score: 2295
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 475
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5233
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.92
    Marker Score: 1414
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 431
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2701
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.9
    Marker Score: 3466
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.89
    Marker Score: 8500
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.89
    Marker Score: 7706
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.88
    Marker Score: 2357
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.88
    Marker Score: 426
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.85
    Marker Score: 52457
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.85
    Marker Score: 8803
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 306.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.85
    Marker Score: 1251
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.84
    Marker Score: 6566
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.82
    Marker Score: 5224
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8
    Marker Score: 793.5
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.79
    Marker Score: 889
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.78
    Marker Score: 26706
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.78
    Marker Score: 3845
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 309
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 582
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.75
    Marker Score: 3046.5
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.74
    Marker Score: 469
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.74
    Marker Score: 370
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.74
    Marker Score: 238
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.74
    Marker Score: 552
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.73
    Marker Score: 7396
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.72
    Marker Score: 779
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7
    Marker Score: 741.5
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.7
    Marker Score: 343
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.69
    Marker Score: 6508
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.69
    Marker Score: 2672
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.69
    Marker Score: 737
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.69
    Marker Score: 437
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2887
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.69
    Marker Score: 258
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.68
    Marker Score: 24985
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.68
    Marker Score: 718
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.68
    Marker Score: 164
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 608
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.66
    Marker Score: 230
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.66
    Marker Score: 684
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.66
    Marker Score: 7382
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.65
    Marker Score: 2803
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.65
    Marker Score: 223
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.64
    Marker Score: 1620
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.64
    Marker Score: 24333
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.63
    Marker Score: 433
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.63
    Marker Score: 155
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.63
    Marker Score: 414
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.62
    Marker Score: 708
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.62
    Marker Score: 2552
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.62
    Marker Score: 180
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.62
    Marker Score: 1480
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.62
    Marker Score: 253
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.62
    Marker Score: 260
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.61
    Marker Score: 870
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.61
    Marker Score: 381
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.61
    Marker Score: 223
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.61
    Marker Score: 366
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.61
    Marker Score: 2161
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.61
    Marker Score: 1235
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6
    Marker Score: 3600
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.6
    Marker Score: 1628
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.6
    Marker Score: 187
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.59
    Marker Score: 405
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.59
    Marker Score: 4411
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.59
    Marker Score: 1636
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.59
    Marker Score: 329
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.59
    Marker Score: 759
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.59
    Marker Score: 589
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.59
    Marker Score: 2431
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.58
    Marker Score: 589
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.58
    Marker Score: 144
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.57
    Marker Score: 949
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.57
    Marker Score: 142
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 151

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Other Information

**Key characteristics:** * The LETM1 gene is a large protein (1,200 amino acids) that is expressed in multiple isoforms. * The full-length protein contains a leucine zipper and an EF-hand, which are both involved in protein-protein interactions. * The protein is also involved in the regulation of mitochondrial calcium ion concentration. **Pathways and functions:** * The LETM1 protein is involved in the regulation of mitochondrial calcium ion concentration by interacting with other proteins that are involved in this process. * It is also involved in the regulation of calcium-dependent signaling pathways, which are involved in a variety of cellular processes, including cell growth, differentiation, and apoptosis. * The LETM1 protein has been shown to play a role in the development and maintenance of the nervous system. **Clinical significance:** * Mutations in the LETM1 gene have been linked to a number of human diseases, including schizophrenia, autism, and epilepsy. * These mutations can disrupt the function of the LETM1 protein, which can lead to the development of these diseases. * Therefore, the LETM1 gene is a promising target for the treatment of these diseases.

Genular Protein ID: 2565376657

Symbol: LETM1_HUMAN

Name: Leucine zipper-EF-hand-containing transmembrane protein 1

UniProtKB Accession Codes:

O95202 B4DED2 Q9UF65

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 9 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 2 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10486213

Title: 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.

PubMed ID: 10486213

DOI: 10.1006/geno.1999.5881

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14706454

Title: LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.

PubMed ID: 14706454

DOI: 10.1016/j.ygeno.2003.08.013

PubMed ID: 15138253

Title: The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.

PubMed ID: 15138253

DOI: 10.1074/jbc.m403607200

PubMed ID: 18628306

Title: Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.

PubMed ID: 18628306

DOI: 10.1242/jcs.026625

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 19797662

Title: Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+ antiporter.

PubMed ID: 19797662

DOI: 10.1126/science.1175145

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24898248

Title: NCLX protein, but not LETM1, mediates mitochondrial Ca2+ extrusion, thereby limiting Ca2+-induced NAD(P)H production and modulating matrix redox state.

PubMed ID: 24898248

DOI: 10.1074/jbc.m113.540898

PubMed ID: 24344246

Title: Functional reconstitution of the mitochondrial Ca2+/H+ antiporter Letm1.

PubMed ID: 24344246

DOI: 10.1085/jgp.201311096

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29123128

Title: PINK1-mediated phosphorylation of LETM1 regulates mitochondrial calcium transport and protects neurons against mitochondrial stress.

PubMed ID: 29123128

DOI: 10.1038/s41467-017-01435-1

PubMed ID: 32139798

Title: The mitochondrial inner membrane protein LETM1 modulates cristae organization through its LETM domain.

PubMed ID: 32139798

DOI: 10.1038/s42003-020-0832-5

PubMed ID: 36321428

Title: TMBIM5 is the Ca2+ /H+ antiporter of mammalian mitochondria.

PubMed ID: 36321428

DOI: 10.15252/embr.202254978

PubMed ID: 36055214

Title: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

PubMed ID: 36055214

DOI: 10.1016/j.ajhg.2022.07.007

Sequence Information:

  • Length: 739
  • Mass: 83354
  • Checksum: 942E9138F299D94F
  • Sequence:
    • MASILLRSCR GRAPARLPPP PRYTVPRGSP GDPAHLSCAS TLGLRNCLNV PFGCCTPIHP 
VYTSSRGDHL GCWALRPECL RIVSRAPWTS TSVGFVAVGP QCLPVRGWHS SRPVRDDSVV 
EKSLKSLKDK NKKLEEGGPV YSPPAEVVVK KSLGQRVLDE LKHYYHGFRL LWIDTKIAAR 
MLWRILNGHS LTRRERRQFL RICADLFRLV PFLVFVVVPF MEFLLPVAVK LFPNMLPSTF 
ETQSLKEERL KKELRVKLEL AKFLQDTIEE MALKNKAAKG SATKDFSVFF QKIRETGERP 
SNEEIMRFSK LFEDELTLDN LTRPQLVALC KLLELQSIGT NNFLRFQLTM RLRSIKADDK 
LIAEEGVDSL NVKELQAACR ARGMRALGVT EDRLRGQLKQ WLDLHLHQEI PTSLLILSRA 
MYLPDTLSPA DQLKSTLQTL PEIVAKEAQV KVAEVEGEQV DNKAKLEATL QEEAAIQQEH 
REKELQKRSE VAKDFEPERV VAAPQRPGTE PQPEMPDTVL QSETLKDTAP VLEGLKEEEI 
TKEEIDILSD ACSKLQEQKK SLTKEKEELE LLKEDVQDYS EDLQEIKKEL SKTGEEKYVE 
ESKASKRLTK RVQQMIGQID GLISQLEMDQ QAGKLAPANG MPTGENVISV AELINAMKQV 
KHIPESKLTS LAAALDENKD GKVNIDDLVK VIELVDKEDV HISTSQVAEI VATLEKEEKV 
EEKEKAKEKA EKEVAEVKS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.