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    LMNB1 lamin B1 [ Homo sapiens ]

    Gene ID: 4001, updated on 19-May-2012
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    Summary

    Official Symbol
    LMNB1provided by HGNC
    Official Full Name
    lamin B1provided by HGNC
    Primary source
    HGNC:6637
    See related
    Ensembl:ENSG00000113368; HPRD:01036; MIM:150340; Vega:OTTHUMG00000128969
    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
    LMN; ADLD; LMN2; LMNB; MGC111419
    Summary
    The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B1. Alternative splicing results in transcript variants and a duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). [provided by RefSeq, Oct 2010]
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    Genomic context

    Location :
    5q23.2
    Sequence :
    Chromosome: 5; NC_000005.9 (126112315..126172712)
    See LMNB1 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene bolA homolog 3 (E. coli) pseudogene Neighboring gene heat shock 10kDa protein 1 (chaperonin 10) pseudogene Neighboring gene uncharacterized LOC100131792 Neighboring gene membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Crystal structures of the coil 2B fragment and the globular tail domain of human lamin B1. Ruan J, et al. FEBS Lett, 2012 Feb 17. PMID 22265972.
    2. Oxidative stress induces an ATM-independent senescence pathway through p38 MAPK-mediated lamin B1 accumulation. Barascu A, et al. EMBO J, 2012 Jan 13. PMID 22246186.
    3. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). Lopitz-Otsoa F, et al. J Proteomics, 2012 Jun 6. PMID 22178446.
    4. The role of nuclear lamin B1 in cell proliferation and senescence. Shimi T, et al. Genes Dev, 2011 Dec 15. PMID 22155925.
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.

    See all (76) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The authors show that oxidative stress increases lamin B1 levels through p38 Mitogen Activated Protein kinase activation.
      Title: Oxidative stress induces an ATM-independent senescence pathway through p38 MAPK-mediated lamin B1 accumulation.
    2. crystal structures of lamin B1 globular tail domain and coiled 2B domain, with similar folds to Ig-like domain and coiled-coil domain of lamin A. Found an extra intermolecular disulfide bond in lamin B1 coil 2B domain, which does not exist in lamin A/C.
      Title: Crystal structures of the coil 2B fragment and the globular tail domain of human lamin B1.
    3. LB1 expression in WI-38 cells decreases during cellular senescence
      Title: The role of nuclear lamin B1 in cell proliferation and senescence.
    4. SNP array analysis revealed novel duplications spanning the entire LMNB1 gene in probands from each of four adult-onset autosomal dominant leukodystrophy families
      Title: Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
    5. Autosomal dominant leukodystrophy is the first disease that has ever been linked to lamin B1 mutations and it expands the pathological role of the nuclear lamia to include disorders of the brain.
      Title: Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease.
    6. results suggest that a LMNB1 regulatory sequence mutation underlies the variant adult-onset autosomal dominant leukodystrophy (ADLD) phenotype; adult forms of ADLD linked to 5q23 may be more heterogeneous clinically and genetically than previously thought
      Title: A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.
    7. Proteomics identified lamin B1 as being significantly upregulated in HCC tumors and present in patients' plasma.
      Title: Circulating Lamin B1 (LMNB1) biomarker detects early stages of liver cancer in patients.
    8. These findings indicate that a lamin dimer principally has the freedom for a "combinatorial" head-to-tail association with all types of lamins, a property that might be of significant importance for the assembly of the nuclear lamina.
      Title: Characterization of the head-to-tail overlap complexes formed by human lamin A, B1 and B2 "half-minilamin" dimers.
    9. Lamin B1 maintains the functional plasticity of nucleoli.
      Title: Lamin B1 maintains the functional plasticity of nucleoli.
    10. Our work indicates that lamin B1 defects are probably not responsible for signs and symptoms resembling multiple sclerosis.
      Title: Mutations in the lamin B1 gene are not present in multiple sclerosis.
    Submit: New GeneRIF Correction See all (24)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Leukodystrophy, adult-onset, autosomal dominant

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat Purified HIV-1 Tat has been shown to bind with high affinity to the nuclear matrix from H9 cells and to link viral RNAs to the nuclear matrix PubMed
    Vpr vpr HIV-1 Vpr co-localizes with lamin B and induces localized disruptions in the normal nuclear lamin architecture, contributing to the formation of nuclear envelope herniations PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_005564.1 NP_005563.1 LMNA    BIND  PubMed Lamin C interacts with Lamin B1. 
    NP_005564.1 NP_733821.1 LMNA    BIND  PubMed Prelamin A interacts with Lamin B1. 
    NP_005564.1 NP_733822.1 LMNA    BIND  PubMed Lamin A interacts with Lamin B1. 
    NP_005564.1 NP_005564.1 LMNB1    BIND  PubMed Lamin B1 interacts with itself to form a homodimer. 
    NP_005564.1 BAA09482.2 URB2    BIND  PubMed Lamin B1 interacts with Lco1. 
    P20700 P42574 CASP3    HPRD  PubMed  
    P20700 P55212 CASP6    HPRD  PubMed  
    P20700 P06493 CDK1    HPRD  PubMed  
    P20700 P12544 GZMA    HPRD  PubMed  
    P20700 P10144 GZMB    HPRD  PubMed  
    P20700 Q14739 LBR    HPRD  PubMed  
    P20700 P02545 LMNA    HPRD  PubMed  
    P20700 Q14680 MELK    HPRD  PubMed  
    P20700 Q15149 PLEC    HPRD  PubMed  
    P20700 P17252 PRKCA    HPRD  PubMed  
    P20700 P05771 PRKCB    HPRD  PubMed  
    P20700 Q05655 PRKCD    HPRD  PubMed  
    P20700 P41219 PRPH    HPRD  PubMed  
    P20700 Q6EEV6 SUMO4    HPRD  PubMed  
    P20700 P42166 TMPO    HPRD  PubMed  
    P20700 Q5JTV8 TOR1AIP1    HPRD  PubMed  
    P20700 Q14146 URB2    HPRD  PubMed  
    BioGRID:110187 BioGRID:106823 AIRE    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110187 BioGRID:198236 Atm    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:108325 EMD    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110187 BioGRID:110186 LMNA    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110187 BioGRID:120654 MCM10    BioGRID  PubMed Co-fractionation 
    BioGRID:110187 BioGRID:123527 NDEL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110187 BioGRID:111447 POU2F1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110187 BioGRID:111564 PRKCA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110187 BioGRID:111565 PRKCB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110187 BioGRID:112481 SMARCA4    BioGRID  PubMed Co-fractionation 
    BioGRID:110187 BioGRID:121244 SMARCAD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:116734 SPG20    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:112587 SPTAN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110187 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:132223 SUMO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:112967 TMPO    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:110187 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:113272 VIM    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110187 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:116303 ZWINT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110187 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Breakdown of the nuclear lamina, organism-specific biosystem (from REACTOME)
      Breakdown of the nuclear lamina, organism-specific biosystemActivated caspases cleave nuclear lamins causing the irreversible breakdown of the nuclear lamina.
    • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • FAS pathway and Stress induction of HSP regulation, organism-specific biosystem (from WikiPathways)
      FAS pathway and Stress induction of HSP regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic Synapsis, organism-specific biosystem (from REACTOME)
      Meiotic Synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phospholipase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    cellular component disassembly involved in apoptosis TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    lamin filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    nuclear envelope TAS
    Traceable Author Statement
    more info
    		  
    nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    lamin-B1
    Names
    lamin-B1
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    NCBI Reference Sequences (RefSeq)

    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_008360.2 RefSeqGene

      Range
      4483..64880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198557.1 → NP_001185486.1  lamin-B1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an downstream start codon, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC137794, AK303084, AW512433
      UniProtKB/TrEMBL
      B4DZT3
      Conserved Domains (2) summary
      pfam00038
      Location:1 – 167
      Blast Score: 396
      Filament; Intermediate filament protein
      pfam00932
      Location:229 – 333
      Blast Score: 221
      LTD; Lamin Tail Domain

    2. NM_005573.3 → NP_005564.1  lamin-B1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC137794, AW512433, BC103723
      Consensus CDS
      CCDS4140.1
      UniProtKB/Swiss-Prot
      P20700
      Related
      ENSP00000261366, OTTHUMP00000159218, ENST00000261366, OTTHUMT00000250956
      Conserved Domains (2) summary
      pfam00038
      Location:31 – 377
      Blast Score: 637
      Filament; Intermediate filament protein
      pfam00932
      Location:439 – 543
      Blast Score: 223
      LTD; Lamin Tail Domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      126112315..126172712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      121304338..121364498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC137794.2 (32242..92636) None
    genomic CH471086.2 EAW48845.1
      EAW48846.1
    genomic L37737.2 AAC37575.1
    genomic L37738.1 AAC37575.1
    genomic L37739.1 AAC37575.1
    genomic L37740.1 AAC37575.1
    genomic L37741.1 AAC37575.1
    genomic L37742.1 AAC37575.1
    genomic L37743.1 AAC37575.1
    genomic L37744.1 AAC37575.1
    genomic L37745.1 AAC37575.1
    genomic L37746.1 AAC37575.1
    genomic L37747.1 AAC37575.1
    mRNA AK303084.1 BAG64195.1
    mRNA AK312603.1 BAG35493.1
    mRNA AU134245.1 None
    mRNA AW512433.1 None
    mRNA BC012295.1 AAH12295.1
    mRNA BC052951.1 None
    mRNA BC078178.1 AAH78178.1
    mRNA BC103723.1 AAI03724.1
    mRNA M34458.1 AAA36162.1
    other-genetic DQ891592.2 ABM82518.1
    other-genetic EU176582.1 ABW03383.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20700.2 GenPept UniProtKB/Swiss-Prot:P20700
    Q6DC98 GenPept UniProtKB/TrEMBL:Q6DC98
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    Additional Links

    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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