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LMNB1 lamin B1 [ Homo sapiens (human) ]

Gene ID: 4001, updated on 17-Nov-2018

Summary

Official Symbol
LMNB1provided by HGNC
Official Full Name
lamin B1provided by HGNC
Primary source
HGNC:HGNC:6637
See related
Ensembl:ENSG00000113368 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
Summary
This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Broad expression in lymph node (RPKM 25.5), appendix (RPKM 22.1) and 18 other tissues See more
Orthologs

Genomic context

See LMNB1 in Genome Data Viewer
Location:
5q23.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (126776623..126837020)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (126112315..126172712)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 10 Neighboring gene RNA, U6 small nuclear 752, pseudogene Neighboring gene LMNB1 divergent transcript Neighboring gene membrane associated ring-CH-type finger 3 Neighboring gene uncharacterized LOC105379163 Neighboring gene chromosome 5 open reading frame 63

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Triplosensitivity

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genomic determinants of motor and cognitive outcomes in Parkinson's disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with LMNB1 PubMed
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 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin B1 (LMNB1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
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 Interaction Database

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • 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
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
  • Depolymerisation of the Nuclear Lamina, organism-specific biosystem (from REACTOME)
    Depolymerisation of the Nuclear Lamina, organism-specific biosystemThe nuclear envelope breakdown in mitotic prophase involves depolymerisation of lamin filaments, the main constituents of the nuclear lamina. The nuclear lamina is located at the nuclear face of the ...
  • Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystem (from REACTOME)
    Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystemPost-mitotic neurons do not have an active cell cycle. However, deregulation of Cyclin Dependent Kinase-5 (CDK5) activity in these neurons can aberrantly activate various components of cell cycle lea...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystem (from WikiPathways)
    Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (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].
  • Formation of Senescence-Associated Heterochromatin Foci (SAHF), organism-specific biosystem (from REACTOME)
    Formation of Senescence-Associated Heterochromatin Foci (SAHF), organism-specific biosystemThe process of DNA damage/telomere stress induced senescence culminates in the formation of senescence associated heterochromatin foci (SAHF). These foci represent facultative heterochromatin that is...
  • Initiation of Nuclear Envelope Reformation, organism-specific biosystem (from REACTOME)
    Initiation of Nuclear Envelope Reformation, organism-specific biosystemReassembly of the nuclear envelope is initiated at late anaphase/early telophase when BANF1 (BAF) accumulates on the decondensing chromosome mass close to the spindle ('core' region), together with E...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • 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...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
  • Neurodegenerative Diseases, organism-specific biosystem (from REACTOME)
    Neurodegenerative Diseases, organism-specific biosystemNeurodegenerative diseases manifest as the progressive dysfunction and loss of neurons, which is frequently accompanied by formation of misfolded protein deposits in the brain. Classification of neur...
  • Nuclear Envelope Breakdown, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Breakdown, organism-specific biosystemThe nuclear envelope breakdown (NEBD) happens in late prophase of mitosis and involves disassembly of the nuclear pore complex, depolymerization of the nuclear lamina, and clearance of nuclear envelo...
  • Nuclear Envelope Reassembly, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Reassembly, organism-specific biosystemThe reassembly of the nuclear envelope (NE) around separated sister chromatids begins in late anaphase and is completed in telophase. Nuclear pore complexes (NPCs) reassemble and insert into the refo...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111419

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phospholipase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
lamin filament IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
colocalizes_with nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
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
 
nuclear membrane HDA PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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_001198557.1NP_001185486.1  lamin-B1 isoform 2

    See identical proteins and their annotated locations for NP_001185486.1

    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:2177
    Filament; Intermediate filament protein
    pfam00932
    Location:229333
    LTD; Lamin Tail Domain
  2. NM_005573.3NP_005564.1  lamin-B1 isoform 1

    See identical proteins and their annotated locations for NP_005564.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC137794, AW512433, BC103723
    Consensus CDS
    CCDS4140.1
    UniProtKB/Swiss-Prot
    P20700
    Related
    ENSP00000261366.5, OTTHUMP00000159218, ENST00000261366.9, OTTHUMT00000250956
    Conserved Domains (2) summary
    pfam00038
    Location:31387
    Filament; Intermediate filament protein
    pfam00932
    Location:439543
    LTD; Lamin Tail Domain

RNA

  1. NR_134488.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC137794, AW512433, BC052951, BC103723
    Related
    ENST00000460265.5, OTTHUMT00000259188

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    126776623..126837020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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