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

Gene ID: 93273, updated on 22-Sep-2022

Summary

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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 16.5) See more
Orthologs
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Genomic context

See LEMD1 in Genome Data Viewer
Location:
1q32.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205381378..205449966, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204645747..204686408, complement)
105.20220307 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 Sharpr-MPRA regulatory region 658 Neighboring gene uncharacterized LOC105371698 Neighboring gene LEMD1 antisense RNA 1 Neighboring gene BLACAT1 overlapping LEMD1 locus Neighboring gene microRNA 135b Neighboring gene LEMD1 divergent transcript Neighboring gene tRNA-Lys (TTT) 8-1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001001552.5NP_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:344
    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_001199050.2NP_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, Q6L9U4
    Related
    ENSP00000356121.4, ENST00000367153.9
    Conserved Domains (1) summary
    cd12940
    Location:344
    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_001199051.2NP_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:349
    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_001199052.2NP_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:332
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047434586.1XP_047290542.1  LEM domain-containing protein 1 isoform X4

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

    Conserved Domains (1) summary
    cd12940
    Location:349
    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_011510162.3XP_011508464.1  LEM domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    cd12940
    Location:344
    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_011510160.3XP_011508462.1  LEM domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011508462.1

    Conserved Domains (1) summary
    cd12940
    Location:344
    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..204686408 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)