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    LBR lamin B receptor [ Homo sapiens (human) ]

    Gene ID: 3930, updated on 3-Apr-2024

    Summary

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    Official Symbol
    LBRprovided by HGNC
    Official Full Name
    lamin B receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6518
    See related
    Ensembl:ENSG00000143815 MIM:600024; AllianceGenome:HGNC:6518
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHA; C14SR; LMN2R; PHASK; TDRD18; DHCR14B
    Summary
    The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 40.2), bone marrow (RPKM 33.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q42.12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (225401502..225428821, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (224589793..224617112, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225589204..225616523, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373109 Neighboring gene uncharacterized LOC124904524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1854 Neighboring gene dynein axonemal heavy chain 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225333859-225334360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225334361-225334860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1855 Neighboring gene MPRA-validated peak726 silencer Neighboring gene MPRA-validated peak727 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2619 Neighboring gene uncharacterized LOC124904525 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614150-225614822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614823-225615494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634414-225634974 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11936 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225633853-225634413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634975-225635534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225643575-225644075 Neighboring gene Sharpr-MPRA regulatory region 13241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225648195-225648876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225653249-225654138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660151-225660670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660671-225661190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2627 Neighboring gene uncharacterized LOC124904526 Neighboring gene long intergenic non-protein coding RNA 2765 Neighboring gene ENAH actin regulator

    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. Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis. Patil S, et al. Hum Mol Genet, 2023 Feb 19. PMID 36124691
    2. A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly. Collins M, et al. Bone, 2020 Dec. PMID 32827848
    3. The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP). En A, et al. Exp Cell Res, 2020 May 1. PMID 32126237
    4. Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome. En A, et al. FEBS Open Bio, 2020 Feb. PMID 31825172, Free PMC Article
    5. [Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly]. Luo X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Sep 10. PMID 31515787

    See all (190) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.
      Title: Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.
    2. Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
      Title: Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
    3. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
      Title: Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
    4. Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.
      Title: Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.
    5. Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome.
      Title: Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome.
    6. Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
      Title: Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
    7. Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.
      Title: Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.
    8. TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
      Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
    9. A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huet anomaly.
      Title: A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.
    10. The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP).
      Title: The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP).
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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

    Associated conditions

    Description Tests
    Greenberg dysplasia
    MedGen: C2931048 OMIM: 215140 GeneReviews: Not available
    		Compare labs
    Pelger-Huet anomaly
    MedGen: C0030779 OMIM: 169400 GeneReviews: Not available
    		Compare labs
    Regressive spondylometaphyseal dysplasia
    MedGen: C4747922 OMIM: 618019 GeneReviews: Not available
    		Compare labs
    Reynolds syndrome
    MedGen: C0748397 OMIM: 613471 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of HIV-1 Tat with lamin B receptor in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC9041, FLJ43126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables NADPH binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables chromo shadow domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables delta14-sterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables delta14-sterol reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables delta14-sterol reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables delta14-sterol reductase activity TAS
    Traceable Author Statement
    more info
    		  
    enables lamin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in neutrophil differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    delta(14)-sterol reductase LBR
    Names
    3-beta-hydroxysterol Delta (14)-reductase
    C-14 sterol reductase
    delta-14-SR
    integral nuclear envelope inner membrane protein
    sterol C14-reductase
    tudor domain containing 18
    NP_002287.2
    NP_919424.1
    XP_005273182.1
    XP_011542487.1
    XP_047276332.1
    XP_047276333.1
    XP_047276342.1
    XP_054192529.1
    XP_054192530.1
    XP_054192531.1
    XP_054192532.1
    XP_054192533.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_008099.1 RefSeqGene

      Range
      5780..32316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002296.4 → NP_002287.2  delta(14)-sterol reductase LBR

      See identical proteins and their annotated locations for NP_002287.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AU134026, BC020079, L25931
      Consensus CDS
      CCDS1545.1
      UniProtKB/Swiss-Prot
      B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
      Related
      ENSP00000272163.4, ENST00000272163.9
      Conserved Domains (2) summary
      pfam09465
      Location:1 → 55
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:205 → 615
      PEMT; Phospholipid methyltransferase

    2. NM_194442.3 → NP_919424.1  delta(14)-sterol reductase LBR

      See identical proteins and their annotated locations for NP_919424.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC020079, DA447510, DB091880, L25931
      Consensus CDS
      CCDS1545.1
      UniProtKB/Swiss-Prot
      B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
      Related
      ENSP00000339883.2, ENST00000338179.6
      Conserved Domains (2) summary
      pfam09465
      Location:1 → 55
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:205 → 615
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      225401502..225428821 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420376.1 → XP_047276332.1  delta(14)-sterol reductase LBR isoform X2

    2. XM_005273125.4 → XP_005273182.1  delta(14)-sterol reductase LBR isoform X2

      Conserved Domains (2) summary
      pfam09465
      Location:1 → 55
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:205 → 573
      PEMT; Phospholipid methyltransferase

    3. XM_047420377.1 → XP_047276333.1  delta(14)-sterol reductase LBR isoform X2

    4. XM_011544185.4 → XP_011542487.1  delta(14)-sterol reductase LBR isoform X1

      See identical proteins and their annotated locations for XP_011542487.1

      UniProtKB/Swiss-Prot
      B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
      Conserved Domains (2) summary
      pfam09465
      Location:1 → 55
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:205 → 615
      PEMT; Phospholipid methyltransferase

    5. XM_047420386.1 → XP_047276342.1  delta(14)-sterol reductase LBR isoform X3

      Related
      ENSP00000499114.1, ENST00000651341.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      224589793..224617112 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336556.1 → XP_054192531.1  delta(14)-sterol reductase LBR isoform X2

    2. XM_054336555.1 → XP_054192530.1  delta(14)-sterol reductase LBR isoform X2

    3. XM_054336557.1 → XP_054192532.1  delta(14)-sterol reductase LBR isoform X2

    4. XM_054336554.1 → XP_054192529.1  delta(14)-sterol reductase LBR isoform X1

      UniProtKB/Swiss-Prot
      B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6

    5. XM_054336558.1 → XP_054192533.1  delta(14)-sterol reductase LBR isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14739.2 GenPept UniProtKB/Swiss-Prot:Q14739

    Gene LinkOut

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

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