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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LETM1 Gene

protein-coding   GIFtS: 57
GCID: GC04M001781

Leucine Zipper-EF-Hand Containing Transmembrane Protein...

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Leucine Zipper-EF-Hand Containing Transmembrane Protein 11 2
Leucine Zipper-EF-Hand-Containing Transmembrane Protein 12 3
Mdm38 Homolog (Yeast)1
LETM1 And EF-Hand Domain-Containing Protein 1, Mitochondrial2
Mdm38 Homolog2

External Ids:    HGNC: 65561   Entrez Gene: 39542   Ensembl: ENSG000001689247   OMIM: 6044075   UniProtKB: O952023   

Export aliases for LETM1 gene to outside databases

Previous GC identifers: GC04M001807 GC04M001794 GC04M001776


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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-EF-hand containing transmembrane protein 1) is a protein-coding gene. Diseases associated with LETM1 include wolf-hirschhorn syndrome. GO annotations related to this gene include protein binding and calcium ion binding. An important paralog of this gene is LETM2.

UniProtKB/Swiss-Prot: LETM1_HUMAN, O95202
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

Gene Wiki entry for LETM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006051.18  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LETM1 gene promoter:
         STAT1   GATA-3   p53   Bach2   HSF1 (long)   STAT1beta   IRF-1   STAT1alpha   HSF1short   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLETM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LETM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LETM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

LETM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LETM1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M001781:  view genomic region     (about GC identifiers)

Start:
1,813,206 bp from pter      End:
1,857,974 bp from pter
Size:
44,769 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LETM1_HUMAN, O95202 (See protein sequence)
Recommended Name: LETM1 and EF-hand domain-containing protein 1, mitochondrial precursor  
Size: 739 amino acids; 83354 Da
Subunit: Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa). Interacts with BCS1L
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein
Sequence caution: Sequence=CAB63769.2; Type=Erroneous translation; Note=Incomplete prediction of CDS at the
C-terminus;
Secondary accessions: B4DED2 Q9UF65
Alternative splicing: 3 isoforms:  O95202-1   O95202-2   O95202-3   (May be due to intron retention)

Explore the universe of human proteins at neXtProt for LETM1: NX_O95202

Explore proteomics data for LETM1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95202

  • LETM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LETM1 Protein Expression
    REFSEQ proteins: NP_036450.1  
    ENSEMBL proteins: 
     ENSP00000305653  

    Human Recombinant Protein Products for LETM1: 
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    Novus Biologicals LETM1 Protein
    Novus Biologicals LETM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LETM1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005743mitochondrial inner membrane IDA18628306
    GO:0016021integral to membrane IEA--

    LETM1 for ontologies           About GeneDecksing



    LETM1 Antibody Products: 
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    Assay Products for LETM1: 
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    Cloud-Clone Corp. ELISAs for LETM1 
    Cloud-Clone Corp. CLIAs for LETM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR011685 LETM1

    Graphical View of Domain Structure for InterPro Entry O95202

    ProtoNet protein and cluster: O95202

    UniProtKB/Swiss-Prot: LETM1_HUMAN, O95202
    Similarity: Contains 1 EF-hand domain
    Similarity: Contains 1 LETM1 domain


    LETM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LETM1_HUMAN, O95202
    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

         Genatlas biochemistry entry for LETM1:
    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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI18628306
         
    LETM1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for LETM1:
     Increased gamma-H2AX phosphory  Increased homologous recombina  Low eccentricity cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LETM1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LETM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LETM1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LETM1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LETM1
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate LETM1 (see all 13):
    hsa-miR-299-5p hsa-miR-206 hsa-miR-3673 hsa-miR-3688-3p hsa-miR-1 hsa-miR-3647-3p hsa-miR-1297 hsa-miR-3920
    SwitchGear 3'UTR luciferase reporter plasmidLETM1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for LETM1
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    Clone
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    OriGene ORF clones in mouse, rat for LETM1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LETM1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LETM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/252 Interacting proteins for LETM1 (O952022, 3 ENSP000003056534) via UniProtKB, MINT, STRING, and/or I2D (see all 252)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    TBK1Q9UHD23, ENSP000003299674I2D: score=1 STRING: ENSP00000329967
    SGK1O001413, ENSP000003568324I2D: score=1 STRING: ENSP00000356832
    MCCP235083, ENSP000003862274I2D: score=1 STRING: ENSP00000386227
    MRPS14O607832, ENSP000004207144MINT-8079030 STRING: ENSP00000420714
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042407cristae formation IMP18628306

    LETM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LETM1

    Search CenterWatch for drugs/clinical trials and news about LETM1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LETM1 gene: 
    NM_012318.2  

    Unigene Cluster for LETM1:

    Leucine zipper-EF-hand containing transmembrane protein 1
    Hs.120165  [show with all ESTs]
    Unigene Representative Sequence: NM_012318
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302787(uc003gdv.3) ENST00000510940 ENST00000511977 ENST00000505551(uc010icc.3 uc011bvg.2)
    ENST00000466175 ENST00000512669 ENST00000512189
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LETM1
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate LETM1 (see all 13):
    hsa-miR-299-5p hsa-miR-206 hsa-miR-3673 hsa-miR-3688-3p hsa-miR-1 hsa-miR-3647-3p hsa-miR-1297 hsa-miR-3920
    SwitchGear 3'UTR luciferase reporter plasmidLETM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LETM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LETM1
    Clone
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    OriGene ORF clones in mouse, rat for LETM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LETM1 (NM_012318)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LETM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LETM1
    Sirion Biotech Customized lentivirus for stable overexpression of LETM1 
                         Customized lentivirus expression plasmids for stable overexpression of LETM1 
    Primer
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    OriGene qPCR primer pairs and template standards for LETM1
    OriGene qSTAR qPCR primer pairs in human, mouse for LETM1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LETM1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LETM1

    Additional mRNA sequence: 

    AF061025.1 AK293572.1 AK310563.1 AL133650.1 BC014500.1 BC021208.1 BX537709.1 

    10 DOTS entries:

    DT.70105052  DT.101980674  DT.95092707  DT.211658  DT.121271451  DT.95266577  DT.95356588  DT.121271431 
    DT.97810252  DT.100809914 

    24/151 AceView cDNA sequences (see all 151):

    BE262357 BM711761 AI261946 BU743263 BM476272 AA782719 BU629393 AA352265 
    BG054846 AW135018 BQ184352 BM825016 BM988380 BQ002237 BI040157 BQ000915 
    BQ018323 AI422842 BF056317 AA295893 BC014500 BM854458 BC021208 AA355445 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LETM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTCCAAAA
    LETM1 Expression
    About this image


    See LETM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LETM1

    SOURCE GeneReport for Unigene cluster: Hs.120165
        SABiosciences Custom PCR Arrays for LETM1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LETM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for LETM1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Letm11 , 5 leucine zipper-EF-hand containing transmembrane protein more1, 5 82.86(n)1
    84.12(a)1
      5 (17.83 cM)5
    563841  NM_019694.11  NP_062668.11 
     337396735 
    chicken
    (Gallus gallus)
    Aves LETM11 leucine zipper-EF-hand containing transmembrane protein more 68.72(n)
    75.96(a)
      422898  NM_001006461.2  NP_001006461.2 
    lizard
    (Anolis carolinensis)
    Reptilia LETM16
    Uncharacterized protein
    69(a)
    1 ↔ 1
    GL343297.1(9687-36941)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.133722 Xenopus laevis transcribed sequence with moderate similarity more 77.08(n)    BJ036304.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570910722   -- 79.44(n)    57091072 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45893
    Letm11
    calcium ion binding3
    CG4589-PA1
    40(a)3
    54.73(n)1
    44.55(a)1
      60D33
    379121  NM_166675.11  NP_726454.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F58G11.1b3
    letm-11
    Protein LETM-11 38(a)
    (best of 2)3
    48.8(n)1
    42.38(a)1
      V(13663892-13666556)3
    1798541  NM_073981.41  NP_506382.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDM38(YOL027C)4
    MDM381
    Mitochondrial protein, forms a complex with Mba1p to more4
    Mdm38p1
    43.75(n)1
    33.62(a)1
      15(273724-272003)4
    8541301, 4  NP_014615.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G598201 LETM1-like protein 46.16(n)
    38.49(a)
      825151  NM_115844.4  NP_191541.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06084001 hypothetical protein 48.04(n)
    40.27(a)
      4329936  NM_001053922.1  NP_001047387.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LETM1 gene
    LETM22  
    1 SIMAP similar gene for LETM1 using alignment to 2 protein entries:     LETM1_HUMAN (see all proteins):
    LETM2

    LETM1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for LETM1
    PGOHUM00000247149 PGOHUM00000234818 PGOHUM00000249757


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/940 SNPs in LETM1 are shown (see all 940)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1443647011,2
    --1812776(+) GGCCTA/GAGGAG 1 -- ds50010--------
    rs1510686911,2
    --1812781(+) GAGGAA/GTCTTT 1 -- ds50010--------
    rs1409649991,2
    C--1813012(+) GGAAGC/TGTGAA 1 -- ds50010--------
    rs1811192041,2
    --1813020(+) GAAGCC/GAAGGG 1 -- ds50010--------
    rs100146631,2
    C,F,A,H--1813043(+) AGGGCA/GGCCCA 1 -- ds500114Minor allele frequency- G:0.04NA WA CSA EA 380
    rs1153298801,2
    C,F--1813286(+) CTGTCC/TGGTGG 1 -- ut311Minor allele frequency- T:0.12WA 118
    rs1497743481,2
    --1813290(+) CCGGTA/GGAGTC 1 -- ut310--------
    rs1843583711,2
    --1813314(+) CTGAAA/GGATTT 1 -- ut310--------
    rs1155579941,2
    C,F--1813420(+) CCTGGG/AACCCA 1 -- ut311Minor allele frequency- A:0.01WA 118
    rs286905621,2
    C,F--1813456(+) CATTTA/TAAAAA 1 -- ut316Minor allele frequency- T:0.17NA WA CSA EA 246

    HapMap Linkage Disequilibrium report for LETM1 (1813206 - 1857974 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for LETM1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508989CNV Insertion20534489
    nsv829836CNV Loss17160897
    dgv5416n71CNV Loss21882294
    nsv878347CNV Loss21882294
    nsv822437CNV Loss20364138
    nsv878400CNV Loss21882294
    nsv878328CNV Loss21882294
    dgv5408n71CNV Loss21882294
    dgv5414n71CNV Loss21882294
    dgv5415n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): LETM1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604407    OMIM disorders: --

    2 diseases for LETM1:    About MalaCards
    wolf-hirschhorn syndrome    

    1 disease from the University of Copenhagen DISEASES database for LETM1:
    Wolf-Hirschhorn syndrome

    LETM1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): LETM1
    Human Genome Epidemiology (HuGE) Navigator: LETM1 (1 document)

    Export disorders for LETM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LETM1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with LETM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10486213)1, 2, 3 Endele S.... Winterpacht A. (1999)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. (PubMed id 18628306)1, 2 Tamai S....Oka T. (2008)
    4. 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)1, 2 Nowikovsky K.... Schweyen R.J. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (PubMed id 14706454)1, 2 Schlickum S.... Endele S.U. (2004)
    7. Regulation of OPA1-mediated mitochondrial fusion by leucine zipper/EF-hand-containing transmembrane protein-1 plays a role in apoptosis. (PubMed id 19168126)1, 9 Piao L....Park J. (2009)
    8. Letm1, the mitochondrial Ca2+/H+ antiporter, is essent ial for normal glucose metabolism and alters brain function in Wolf-Hirschhorn s yndrome. (PubMed id 23716663)1 Jiang D....Clapham D.E. (2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3954 HGNC: 6556 AceView: LETM1 Ensembl:ENSG00000168924 euGenes: HUgn3954
    ECgene: LETM1 H-InvDB: LETM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LETM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LETM1 gene:
    Search GeneIP for patents involving LETM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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