LEMD1 Gene (Protein Coding)

LEM Domain Containing 1

GC01M205381
GIFtS:
33

Aliases for LEMD1 Gene

Aliases for LEMD1 Gene

  • LEM Domain Containing 1 2 3 5
  • Cancer/Testis Antigen 50 2 3 4
  • LEM Domain-Containing Protein 1 3 4
  • LEM Domain Protein 1 3 4
  • LEMP-1 3 4
  • CT50 3 4

External Ids for LEMD1 Gene

Previous GeneCards Identifiers for LEMD1 Gene

  • GC00U991227
  • GC01M202528
  • GC01M202082
  • GC01M203617
  • GC01M205350
  • GC01M176516

Summaries for LEMD1 Gene

GeneCards Summary for LEMD1 Gene

LEMD1 (LEM Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is TMPO.

Additional gene information for LEMD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LEMD1 Gene

Genomics for LEMD1 Gene

GeneHancer (GH) Regulatory Elements for LEMD1 Gene

Promoters and enhancers for LEMD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J205454 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 750.6 -0.3 -273 3.3 GLIS2 ZBTB8A ZNF740 ZSCAN4 POLR2A SP2 ZFX USF1 TEAD1 ZFHX2 BLACAT1 LEMD1 LEMD1-DT
GH01J205422 Promoter 0.3 EPDnew 761.6 +33.9 33878 0.1 LEMD1 LEMD1-DT CDK18 KLHDC8A LEMD1-AS1 MFSD4A MIR135B BLACAT1 LOC105371698
GH01J205477 Enhancer 1.3 FANTOM5 Ensembl ENCODE 12.2 -23.8 -23846 6 ZNF785 SP1 HCFC1 ZNF133 RELA HLF ZNF121 MNT NFIB NKRF MDM4 ELK4 RBBP5 CDK18 LEMD1 LEMD1-DT MIR135B KLHDC8A LEMD1-AS1 MFSD4A
GH01J205430 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 11.9 +25.3 25286 0.8 CTCF SMARCE1 CC2D1A L3MBTL2 RAD21 TEAD4 ZNF148 GTF2F1 SMARCA4 MTA1 MDM4 LEMD1 LEMD1-DT CDK18 LEMD1-AS1 KLHDC8A MFSD4A ELK4 MIR135B BLACAT1
GH01J205485 Enhancer 1.1 Ensembl ENCODE 11.8 -29.6 -29647 1.2 CTCF MLX RBPJ NR2F1 NR2F6 MIXL1 CC2D1A RAD21 ZNF121 SP1 LEMD1 LEMD1-DT MIR135B KLHDC8A LEMD1-AS1 NUAK2 MFSD4A TRK-TTT8-1 CDK18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LEMD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LEMD1 gene promoter:
  • Brachyury
  • c-Myb
  • CREB
  • E2F
  • E2F-1
  • E4BP4
  • GR
  • GR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for LEMD1 Gene

Genomic Locations for LEMD1 Gene
chr1:205,381,378-205,455,954
(GRCh38/hg38)
Size:
74,577 bases
Orientation:
Minus strand
chr1:205,350,506-205,425,082
(GRCh37/hg19)
Size:
74,577 bases
Orientation:
Minus strand

Genomic View for LEMD1 Gene

Genes around LEMD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEMD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEMD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LEMD1 Gene

Proteins for LEMD1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for LEMD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68G75-LEMD1_HUMAN
    Recommended name:
    LEM domain-containing protein 1
    Protein Accession:
    Q68G75
    Secondary Accessions:
    • Q6L9T9
    • Q6L9U0
    • Q6L9U1
    • Q6L9U2
    • Q6L9U3
    • Q6L9U4

    Protein attributes for LEMD1 Gene

    Size:
    181 amino acids
    Molecular mass:
    20326 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LEMD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LEMD1 Gene

Protein Expression for LEMD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LEMD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LEMD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LEMD1 Gene

Domains & Families for LEMD1 Gene

Gene Families for LEMD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LEMD1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LEMD1 Gene

GenScript: Design optimal peptide antigens:
  • LEM domain protein 1 (LEMD1_HUMAN)
genes like me logo Genes that share domains with LEMD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LEMD1 Gene

Function for LEMD1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for LEMD1 Gene

Phenotypes for LEMD1 Gene

GenomeRNAi human phenotypes for LEMD1:
genes like me logo Genes that share phenotypes with LEMD1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LEMD1 Gene

Localization for LEMD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEMD1 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LEMD1 gene
Compartment Confidence
nucleus 2
extracellular 1
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LEMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LEMD1: view

Pathways & Interactions for LEMD1 Gene

PathCards logo

SuperPathways for LEMD1 Gene

No Data Available

Interacting Proteins for LEMD1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 10)
STRING Interaction Network
Selected Interacting proteins: ENSP00000356121 Q68G75-LEMD1_HUMAN for LEMD1 Gene via STRING IID

GPS-Prot Interaction Network for LEMD1

Gene Ontology (GO) - Biological Process for LEMD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LEMD1 Gene

Drugs & Compounds for LEMD1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for LEMD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LEMD1 Gene

(4) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(36) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LEMD1 Gene

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

Relevant External Links for LEMD1 Gene

GeneLoc Exon Structure for
LEMD1
ECgene alternative splicing isoforms for
LEMD1

Expression for LEMD1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LEMD1 Gene

mRNA expression in normal human tissues for LEMD1 Gene
mRNA expression by BioGPS for LEMD1 GenemRNA expression by GTEx for LEMD1 Gene

mRNA differential expression in normal tissues according to GTEx for LEMD1 Gene

This gene is overexpressed in Testis (x41.9).

Protein differential expression in normal tissues from HIPED for LEMD1 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LEMD1 Gene



Protein tissue co-expression partners for LEMD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LEMD1 Gene:

LEMD1

SOURCE GeneReport for Unigene cluster for LEMD1 Gene:

Hs.655520

mRNA Expression by UniProt/SwissProt for LEMD1 Gene:

Q68G75-LEMD1_HUMAN
Tissue specificity: Testis-specific. Isoform 6 is detected in 17 of 18 colon cancer tissues examined.
genes like me logo Genes that share expression patterns with LEMD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LEMD1 Gene

Orthologs for LEMD1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for LEMD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LEMD1 33 32
  • 98.9 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia LEMD1 33 32
  • 79.56 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia LEMD1 33 32
  • 75.14 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia LOC102556277 32
  • 69.65 (n)
mouse
(Mus musculus)
 Mammalia Lemd1 33
  • 43 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia LEMD1 33
  • 34 (a)
 OneToOne
Species where no ortholog for LEMD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LEMD1 Gene

ENSEMBL:
Gene Tree for LEMD1 (if available)
TreeFam:
Gene Tree for LEMD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LEMD1: view image

Paralogs for LEMD1 Gene

Paralogs for LEMD1 Gene

genes like me logo Genes that share paralogs with LEMD1: view

Variants for LEMD1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for LEMD1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000000971 -- 205,444,187(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000095534 -- 205,444,426(-) G/C/T genic_upstream_transcript_variant, intron_variant
rs1000098682 -- 205,398,069(-) G/A intron_variant
rs1000105702 -- 205,444,381(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000144175 -- 205,386,610(-) CCCCCC/CCCCCCC intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LEMD1 Gene

Variant ID Type Subtype PubMed ID
esv3439684 CNV insertion 20981092
esv3588635 CNV gain 21293372
nsv1014629 CNV gain 25217958
nsv832381 CNV gain 17160897

Variation tolerance for LEMD1 Gene

Residual Variation Intolerance Score: 53.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.62; 72.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEMD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEMD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEMD1 Gene

Disorders for LEMD1 Gene

Additional Disease Information for LEMD1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for LEMD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LEMD1 Gene

Publications for LEMD1 Gene

  1. Isolation of LEM domain-containing 1, a novel testis-specific gene expressed in colorectal cancers. (PMID: 15254688) Yuki D … Furukawa Y (Oncology reports 2004) 2 3 4 23 56
  2. Identification and functional analysis of variants of a cancer/testis antigen LEMD1 in colorectal cancer stem-like cells. (PMID: 28219643) Takeda R … Torigoe T (Biochemical and biophysical research communications 2017) 3 56
  3. LEM domain containing 1 promotes oral squamous cell carcinoma invasion and endothelial transmigration. (PMID: 27280633) Sasahira T … Kuniyasu H (British journal of cancer 2016) 3 56
  4. Expression of two testis-specific genes, SPATA19 and LEMD1, in prostate cancer. (PMID: 20682177) Ghafouri-Fard S … Modarressi MH (Archives of medical research 2010) 3 56
  5. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PMID: 17903294) Yang Q … O'Donnell CJ (BMC medical genetics 2007) 43 56

ExternalLinks

View latest publications for LEMD1 gene in Mastermind

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