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

LEMD1 Gene

protein-coding   GIFtS: 45
GCID: GC01M205350

LEM domain containing 1
 Explore 4 diseases affiliated with
LEMD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LEMD1    

Aliases
for LEMD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
LEM Domain Containing 11 2
CT501 2 3
LEMP-11 2 3
Cancer/Testis Antigen 502 3
LEM Domain Protein 12 3
LEM Domain-Containing Protein 12

External Ids:    HGNC: 187251   Entrez Gene: 932732   Ensembl: ENSG000001860077   OMIM: 6104805   UniProtKB: Q68G753   
ORGUL members:         
NONCODE:n410445    

Export aliases for LEMD1 gene to outside databases

Previous GC identifers: GC00U991227 GC01M202528 GC01M202082 GC01M203617 GC01M176516


Summaries
for LEMD1 gene

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

Genomic Views
for LEMD1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LEMD1 gene promoter:
         SRF   GR   Brachyury   SRF (504 AA)   E4BP4   CREB   E2F   E2F-1   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LEMD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LEMD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LEMD1


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

LEMD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEMD1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M205350:  view genomic region     (about GC identifiers)

Start:
 205,350,506 bp from pter      End:
 205,425,082 bp from pter
Size:
 74,577 bases      Orientation:
 minus strand

Proteins
for LEMD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: LEMD1_HUMAN, Q68G75 (See protein sequence)
Recommended Name: LEM domain-containing protein 1  
Size: 181 amino acids; 20326 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q6L9T9 Q6L9U0 Q6L9U1 Q6L9U2 Q6L9U3 Q6L9U4
Alternative splicing: 6 isoforms:  Q68G75-1   Q68G75-2   Q68G75-3   Q68G75-4   Q68G75-5   Q68G75-6   (Found at the nuclear membrane. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LEMD1: NX_Q68G75

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q68G75

    • LEMD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001001552.3  NP_001185979.1  NP_001185980.1  NP_001185981.1  

    ENSEMBL proteins: 
     ENSP00000356120   ENSP00000356121   ENSP00000356122   ENSP00000356119   ENSP00000375801  
     ENSP00000356117  

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    Uscn Proteins for LEMD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IEA--
    GO:0016021integral to membrane IEA--


    LEMD1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for LEMD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    LEMD1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003887 LEM_dom
     IPR011015 LEM/LEM-like_dom

    Graphical View of Domain Structure for InterPro Entry Q68G75

    ProtoNet protein and cluster: Q68G75

    1 Blocks protein family: IPB011015 LEM-like fold

    UniProtKB/Swiss-Prot: LEMD1_HUMAN, Q68G75
    Similarity: Contains 1 LEM domain


    Function
    for LEMD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Inhib. RNA
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    Pathways & Interactions
    for LEMD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LEMD1

    Drugs & Compounds
    for LEMD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for LEMD1
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    Transcripts
    for LEMD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for LEMD1 gene (4 alternative transcripts): 
    NM_001001552.4  NM_001199050.1  NM_001199051.1  NM_001199052.1  

    Unigene Clusters for LEMD1:

    LEM domain containing 1
    Hs.655520  [show with all ESTs], Hs.733328  [show with all ESTs]
    Unigene Representative Sequences: AK026628, NM_001199050
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367152 ENST00000476884 ENST00000367153(uc001hcj.2 uc001hck.2)
    ENST00000367154 ENST00000495594 ENST00000367151(uc001hcl.2 uc001hcm.2)
    ENST00000391936(uc001hci.2) ENST00000367149(uc001hcn.2)

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    SwitchGear 3'UTR luciferase reporter plasmid: LEMD1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LEMD1
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB084764.1 AB096677.1 AB096679.1 AB096680.1 AB096682.1 AK302392.1 BC036636.2 

    7 DOTS entries:

    DT.102825516  DT.100747861  DT.102825518  DT.95147921  DT.102825517  DT.95147922  DT.97835540 

    24/36 AceView cDNA sequences (see all 36):

    AW296045 AB096678 AB084764 AB096677 AB096680 AB096679 AB085610 AB096681 
    AI991578 NM_001001552 AB084765 AK026628 BE222220 AB096682 AI671135 AA421282 
    AW594506 AA421242 BI561075 AA610048 BC036636 AW590168 BI830093 AI632297 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for LEMD1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
    SP1:                                    
    SP2:                    -               
    SP3:              -                     
    SP4:              -     -               
    SP5:              -     -     -         


    ECgene alternative splicing isoforms for LEMD1

    Expression
    for LEMD1 gene

    (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

    LEMD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAACTCTCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    LEMD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See LEMD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LEMD1

    SOURCE GeneReport for Unigene clusters: Hs.655520 Hs.733328

    UniProtKB/Swiss-Prot: LEMD1_HUMAN, Q68G75
    Tissue specificity: Testis-specific. Isoform 6 is detected in 17 of 18 colon cancer tissues examined

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    In Situ
    Assay Products:     
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    Orthologs
    for LEMD1 gene

    (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
    		   --

    ENSEMBL Gene Tree for LEMD1 (if available)
    TreeFam Gene Tree for LEMD1 (if available) 

    Paralogs
    for LEMD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for LEMD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/741 NCBI SNPs in LEMD1 are shown (see all 741)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1859228351,2
    		--205350075(+) TCAGGA/TGTGGA 6 -- int10--------
    rs109004861,2
    		C,F,A,H,--205350228(+) GGAGCT/CGGGTG 6 -- int114Minor allele frequency- C:0.29NS EA NA CSA WA 741
    rs109004871,2
    		C,F,A,H,--205350232(+) CCGGGC/TGCCTA 6 -- int122Minor allele frequency- T:0.03NS EA NA WA CSA 1709
    rs413140291,2
    		--205350527(+) CTGCTC/GAAATA 6 -- int1 nc-transcript-variantut310--------
    rs1483874491,2
    		--205350581(+) CTAACC/TATCAT 6 -- nc-transcript-variantint1 ut310--------
    rs1883406151,2
    		C,--205350854(+) AAGCAC/TAGCAA 8 M V ut31 mis1 int10--------
    rs1466818701,2
    		C,F--205350872(+) GCCCAC/TTGGGA 10 M V Q mis1 syn1 int11Minor allele frequency- T:0.00NA 4552
    rs1997463101,2
    		--205351014(+) GGATTG/TTGGAC 6 -- int10--------
    rs751990661,2
    		--205351041(+) AGTAGC/TCCCTT 6 -- int11Minor allele frequency- T:0.01NA 120
    rs75378061,2
    		C,F,--205351124(+) ACCTAG/AGCTAA 6 -- int19Minor allele frequency- A:0.19NA WA EA 506

    HapMap Linkage Disequilibrium report for LEMD1 (205350506 - 205425082 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LEMD1: --

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    Disorders / Diseases
    for LEMD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    LEMD1 for disorders           About GeneDecksing

    OMIM gene information: 610480    OMIM disorders: --

    4 diseases for LEMD1:    About MalaCards
    colon cancer    colorectal cancer    prostate cancer    prostatitis


    Export disorders for LEMD1 gene to outside databases

    Publications
    for LEMD1 gene

    (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 LEMD1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with LEMD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of LEM domain-containing 1, a novel testis-specific gene expressed in colorectal cancers. (PubMed id 15254688)1, 2, 3, 9 Yuki D.... Furukawa Y. (2004)
    2. Expression of two testis-specific genes, SPATA19 and LEMD1, in prostate cancer. (PubMed id 20682177)1 Ghafouri-Fard S....Modarressi M.H. (2010)
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for LEMD1 gene

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

    Genome Databases showing LEMD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 93273 HGNC: 18725 AceView: LEMD1 Ensembl:ENSG00000186007 euGenes: HUgn93273
    ECgene: LEMD1 H-InvDB: LEMD1

    Other Databases showing LEMD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LEMD1 gene

    (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 LEMD1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for LEMD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for LEMD1 gene:
    Search GeneIP for patents involving LEMD1

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



    Products
    for LEMD1 gene

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    About This Section

     
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