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    LEMD1 LEM domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 93273, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LEMD1provided by HGNC
    Official Full Name
    LEM domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:18725
    See related
    Ensembl:ENSG00000186007 MIM:610480; AllianceGenome:HGNC:18725
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT50; LEMP-1
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 16.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See LEMD1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205381378..205449966, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204645747..204714283, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205350506..205391184, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch domain containing 8A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205319640-205320547 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 10 Neighboring gene Sharpr-MPRA regulatory region 5187 Neighboring gene Sharpr-MPRA regulatory region 658 Neighboring gene uncharacterized LOC105371698 Neighboring gene LEMD1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205379638-205380138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205407203-205407784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205408947-205409526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205409527-205410108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205412350-205412862 Neighboring gene BLACAT1 overlapping LEMD1 locus Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205414397-205414908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205414909-205415420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1740 Neighboring gene microRNA 135b Neighboring gene LEMD1 divergent transcript Neighboring gene tRNA-Lys (TTT) 8-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Elevation of LEM Domain Containing 1 Predicts Poor Prognosis of NSCLC Patients and Triggers Malignant Stemness and Invasion of NSCLC Cells by Stimulating PI3K/AKT Pathway. Li L, et al. Curr Mol Med, 2024. PMID 36967459
    2. LEM domain containing 1 promotes proliferation via activating the PI3K/Akt signaling pathway in gastric cancer. Li Q, et al. J Cell Biochem, 2019 Sep. PMID 31021450
    3. Identification and functional analysis of variants of a cancer/testis antigen LEMD1 in colorectal cancer stem-like cells. Takeda R, et al. Biochem Biophys Res Commun, 2017 Apr 8. PMID 28219643
    4. LEM domain containing 1 promotes oral squamous cell carcinoma invasion and endothelial transmigration. Sasahira T, et al. Br J Cancer, 2016 Jun 28. PMID 27280633, Free PMC Article
    5. Isolation of LEM domain-containing 1, a novel testis-specific gene expressed in colorectal cancers. Yuki D, et al. Oncol Rep, 2004 Aug. PMID 15254688

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevation of LEM Domain Containing 1 Predicts Poor Prognosis of NSCLC Patients and Triggers Malignant Stemness and Invasion of NSCLC Cells by Stimulating PI3K/AKT Pathway.
      Title: Elevation of LEM Domain Containing 1 Predicts Poor Prognosis of NSCLC Patients and Triggers Malignant Stemness and Invasion of NSCLC Cells by Stimulating PI3K/AKT Pathway.
    2. Long Noncoding RNA LEMD1-AS1 Increases LEMD1 Expression and Activates PI3K-AKT Pathway to Promote Metastasis in Oral Squamous Cell Carcinoma.
      Title: Long Noncoding RNA LEMD1-AS1 Increases LEMD1 Expression and Activates PI3K-AKT Pathway to Promote Metastasis in Oral Squamous Cell Carcinoma.
    3. LEM domain containing 1 (LEMD1) transcriptionally activated by SRY-related high-mobility-group box 4 (SOX4) accelerates the progression of colon cancer by upregulating phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt) signaling pathway.
      Title: LEM domain containing 1 (LEMD1) transcriptionally activated by SRY-related high-mobility-group box 4 (SOX4) accelerates the progression of colon cancer by upregulating phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt) signaling pathway.
    4. Long non-coding RNA LINC00958 promotes colorectal cancer progression by enhancing the expression of LEM domain containing 1 via microRNA miR-3064-5p.
      Title: Long non-coding RNA LINC00958 promotes colorectal cancer progression by enhancing the expression of LEM domain containing 1 via microRNA miR-3064-5p.
    5. LEM domain containing 1 promotes proliferation via activating the PI3K/Akt signaling pathway in gastric cancer.
      Title: LEM domain containing 1 promotes proliferation via activating the PI3K/Akt signaling pathway in gastric cancer.
    6. Data show that LEM domain containing 1 (LEMD1)has five transcript splicing variants (variant 1 [V1] - variant 5 [V5]), and that LEMD1 V1, V2 and V3 is expressed in testis and CR-CSCs/CICs, whereas LEMD1 V4 and V5 is ubiquitously expressed.
      Title: Identification and functional analysis of variants of a cancer/testis antigen LEMD1 in colorectal cancer stem-like cells.
    7. Downregulation of LEMD1 expression inhibited adhesion and transmigration of OSCCs.
      Title: LEM domain containing 1 promotes oral squamous cell carcinoma invasion and endothelial transmigration.
    8. Of the prostate cancer samples, 10, 10, 23 and 40% showed ODF1, ODF2, LEMD1 and SPATA19 specific bands, respectively, but none of the BPH samples expressed any of these genes.
      Title: Expression of two testis-specific genes, SPATA19 and LEMD1, in prostate cancer.
    9. LEM domain-containing 1 is a novel testis-specific gene expressed in colorectal cancers
      Title: Isolation of LEM domain-containing 1, a novel testis-specific gene expressed in colorectal cancers.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    LEM domain-containing protein 1
    Names
    LEM domain protein 1
    cancer/testis antigen 50

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001001552.5 → NP_001001552.3  LEM domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001001552.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two consecutive exons in the CDS compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AB085610, AI923802, DC399934
      Consensus CDS
      CCDS30986.1
      UniProtKB/Swiss-Prot
      Q68G75
      Related
      ENSP00000375801.2, ENST00000391936.6
      Conserved Domains (1) summary
      cd12940
      Location:3 → 44
      LEM_LAP2_LEMD1; LEM (Lap2/Emerin/Man1) domain found in lamina-associated polypeptide 2 (LAP2), LEM domain-containing protein 1 (LEMP-1) and similar proteins

    2. NM_001199050.2 → NP_001185979.1  LEM domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001185979.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB096677, AI923802, DC399934
      Consensus CDS
      CCDS55679.1
      UniProtKB/Swiss-Prot
      Q68G75, Q6L9T9, Q6L9U0, Q6L9U1, Q6L9U2, Q6L9U3, Q6L9U4
      UniProtKB/TrEMBL
      B4DYE5
      Related
      ENSP00000356121.4, ENST00000367153.9
      Conserved Domains (1) summary
      cd12940
      Location:3 → 44
      LEM_LAP2_LEMD1; LEM (Lap2/Emerin/Man1) domain found in lamina-associated polypeptide 2 (LAP2), LEM domain-containing protein 1 (LEMP-1) and similar proteins

    3. NM_001199051.2 → NP_001185980.1  LEM domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001185980.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the CDS and encodes a shorter isoform (2), as compared to variant 1.
      Source sequence(s)
      AB096679, AI923802, DC399934
      Consensus CDS
      CCDS55678.1
      UniProtKB/Swiss-Prot
      Q68G75
      Related
      ENSP00000356120.1, ENST00000367152.5
      Conserved Domains (1) summary
      cd12940
      Location:3 → 49
      LEM_LAP2_LEMD1; LEM (Lap2/Emerin/Man1) domain found in lamina-associated polypeptide 2 (LAP2), LEM domain-containing protein 1 (LEMP-1) and similar proteins

    4. NM_001199052.2 → NP_001185981.1  LEM domain-containing protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001185981.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks three consecutive exons in the CDS compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AB084764, AI923802, DC399934
      Consensus CDS
      CCDS55677.1
      UniProtKB/Swiss-Prot
      Q68G75
      Related
      ENSP00000356117.3, ENST00000367149.6
      Conserved Domains (1) summary
      cd12940
      Location:3 → 32
      LEM_LAP2_LEMD1; LEM (Lap2/Emerin/Man1) domain found in lamina-associated polypeptide 2 (LAP2), LEM domain-containing protein 1 (LEMP-1) and similar proteins

    RNA

    1. NR_037583.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two consecutive exons in the CDS, resulting in an internal stop codon, compared to variant 1. The transcript lacks a valid open reading frame and does not make a protein.
      Source sequence(s)
      AB096678, AI923802, DC399934
      Related
      ENST00000476884.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      205381378..205449966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434586.1 → XP_047290542.1  LEM domain-containing protein 1 isoform X4

    2. XM_011510163.3 → XP_011508465.1  LEM domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      cd12940
      Location:3 → 49
      LEM_LAP2_LEMD1; LEM (Lap2/Emerin/Man1) domain found in lamina-associated polypeptide 2 (LAP2), LEM domain-containing protein 1 (LEMP-1) and similar proteins

    3. XM_011510162.3 → XP_011508464.1  LEM domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DYE5
      Conserved Domains (1) summary
      cd12940
      Location:3 → 44
      LEM_LAP2_LEMD1; LEM (Lap2/Emerin/Man1) domain found in lamina-associated polypeptide 2 (LAP2), LEM domain-containing protein 1 (LEMP-1) and similar proteins

    4. XM_011510160.3 → XP_011508462.1  LEM domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011508462.1

      UniProtKB/TrEMBL
      B4DYE5
      Conserved Domains (1) summary
      cd12940
      Location:3 → 44
      LEM_LAP2_LEMD1; LEM (Lap2/Emerin/Man1) domain found in lamina-associated polypeptide 2 (LAP2), LEM domain-containing protein 1 (LEMP-1) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      204645747..204714283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339657.1 → XP_054195632.1  LEM domain-containing protein 1 isoform X4

    2. XM_054339656.1 → XP_054195631.1  LEM domain-containing protein 1 isoform X3

    3. XM_054339655.1 → XP_054195630.1  LEM domain-containing protein 1 isoform X2

    4. XM_054339654.1 → XP_054195629.1  LEM domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68G75.2 GenPept UniProtKB/Swiss-Prot:Q68G75

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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