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

Gene ID: 93273, updated on 2-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
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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 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)

Genotypes

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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