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Aliases for LMNB1 Gene

Aliases for LMNB1 Gene

  • Lamin B1 2 3
  • LMN2 3 4
  • ADLD 3 6
  • LMNB 3 4
  • Lamin-B1 3
  • LMN 3

External Ids for LMNB1 Gene

Summaries for LMNB1 Gene

Entrez Gene Summary for LMNB1 Gene

  • 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]

GeneCards Summary for LMNB1 Gene

LMNB1 (Lamin B1) is a Protein Coding gene. Diseases associated with LMNB1 include leukodystrophy, adult-onset, autosomal dominant and leukodystrophy. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include structural molecule activity and phospholipase binding. An important paralog of this gene is LMNB2.

UniProtKB/Swiss-Prot for LMNB1 Gene

  • Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin

Gene Wiki entry for LMNB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMNB1 Gene

Genomics for LMNB1 Gene

Genomic Location for LMNB1 Gene

Start:
126,776,623 bp from pter
End:
126,837,020 bp from pter
Size:
60,398 bases
Orientation:
Plus strand

Genomic View for LMNB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LMNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMNB1 Gene

Regulatory Elements for LMNB1 Gene

Proteins for LMNB1 Gene

  • Protein details for LMNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20700-LMNB1_HUMAN
    Recommended name:
    Lamin-B1
    Protein Accession:
    P20700
    Secondary Accessions:
    • B2R6J6
    • Q3SYN7
    • Q96EI6

    Protein attributes for LMNB1 Gene

    Size:
    586 amino acids
    Molecular mass:
    66408 Da
    Quaternary structure:
    • Homodimer. Interacts with lamin-associated polypeptides IA, IB and 2.
    Miscellaneous:
    • The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively

    Three dimensional structures from OCA and Proteopedia for LMNB1 Gene

neXtProt entry for LMNB1 Gene

Proteomics data for LMNB1 Gene at MOPED

Post-translational modifications for LMNB1 Gene

  • B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys49, Lys79, Lys111, Lys134, Lys145, Lys157, Lys182, Lys209, Lys241, Lys261, Lys271, Lys312, Lys379, Lys389, Lys483, Lys528, Lys532, and Lys547

Other Protein References for LMNB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LMNB1 Gene

Domains for LMNB1 Gene

Gene Families for LMNB1 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

UniProtKB/Swiss-Prot:

LMNB1_HUMAN
Domain:
  • Contains 1 LTD domain.:
    • P20700
Family:
  • Belongs to the intermediate filament family.:
    • P20700
genes like me logo Genes that share domains with LMNB1: view

Function for LMNB1 Gene

Molecular function for LMNB1 Gene

GENATLAS Biochemistry: lamin,type B1
UniProtKB/Swiss-Prot Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin

Gene Ontology (GO) - Molecular Function for LMNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0043274 phospholipase binding IEA --
genes like me logo Genes that share ontologies with LMNB1: view
genes like me logo Genes that share phenotypes with LMNB1: view

Animal Models for LMNB1 Gene

MGI Knock Outs for LMNB1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for LMNB1 Gene

Localization for LMNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMNB1 Gene

Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LMNB1 Gene COMPARTMENTS Subcellular localization image for LMNB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LMNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005635 nuclear envelope TAS --
GO:0005637 nuclear inner membrane IEA --
GO:0005638 lamin filament IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with LMNB1: view

Pathways for LMNB1 Gene

genes like me logo Genes that share pathways with LMNB1: view

Pathways by source for LMNB1 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for LMNB1 Gene
2 Cell Signaling Technology pathways for LMNB1 Gene

Gene Ontology (GO) - Biological Process for LMNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0012501 programmed cell death TAS --
genes like me logo Genes that share ontologies with LMNB1: view

Compounds for LMNB1 Gene

(7) Novoseek inferred chemical compound relationships for LMNB1 Gene

Compound -log(P) Hits PubMed IDs
adpribose 48.1 1
etoposide 24.4 2
paclitaxel 21.3 1
ionomycin 17.9 3
phosphatidylserine 10.5 1
genes like me logo Genes that share compounds with LMNB1: view

Transcripts for LMNB1 Gene

Unigene Clusters for LMNB1 Gene

Lamin B1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LMNB1 Gene

No ASD Table

Relevant External Links for LMNB1 Gene

GeneLoc Exon Structure for
LMNB1
ECgene alternative splicing isoforms for
LMNB1

Expression for LMNB1 Gene

mRNA expression in normal human tissues for LMNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LMNB1 Gene

This gene is overexpressed in Whole Blood (13.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LMNB1 Gene

SOURCE GeneReport for Unigene cluster for LMNB1 Gene Hs.89497

genes like me logo Genes that share expressions with LMNB1: view

Orthologs for LMNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMNB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMNB1 36
  • 99.72 (n)
  • 99.66 (a)
LMNB1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LMNB1 36
  • 92.15 (n)
  • 97.95 (a)
LMNB1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMNB1 36
  • 93.1 (n)
  • 98.46 (a)
LMNB1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmnb1 36
  • 88.4 (n)
  • 96.25 (a)
Lmnb1 16
Lmnb1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 69 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LMNB1 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmnb1 36
  • 88.79 (n)
  • 95.39 (a)
chicken
(Gallus gallus)
Aves LMNB1 36
  • 77.21 (n)
  • 79.55 (a)
LMNB1 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMNB1 37
  • 32 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397911 36
tropical clawed frog
(Silurana tropicalis)
Amphibia lmnb1 36
  • 72.26 (n)
  • 75.68 (a)
MGC75974 36
zebrafish
(Danio rerio)
Actinopterygii lmnb1 36
  • 67.64 (n)
  • 70.03 (a)
lmnb1 37
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lam 37
  • 35 (a)
ManyToMany
LamC 37
  • 33 (a)
ManyToMany
LamC 38
  • 36 (a)
Lam 38
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea lmn-1 36
  • 44.75 (n)
  • 34.82 (a)
lmn-1 37
  • 30 (a)
OneToMany
ifa-2 38
  • 27 (a)
ifb-1 38
  • 28 (a)
ifb-2 38
  • 24 (a)
lmn-1 38
  • 32 (a)
ifa-4 38
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8283 37
  • 34 (a)
OneToMany
Species with no ortholog for LMNB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMNB1 Gene

ENSEMBL:
Gene Tree for LMNB1 (if available)
TreeFam:
Gene Tree for LMNB1 (if available)

Paralogs for LMNB1 Gene

Paralogs for LMNB1 Gene

Selected SIMAP similar genes for LMNB1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with LMNB1: view

Variants for LMNB1 Gene

Sequence variations from dbSNP and Humsavar for LMNB1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs907196 -- 126,778,599(-) CACCA(C/G/T)TCCCG intron-variant
rs966087 -- 126,835,218(-) CATTA(G/T)TTTCT intron-variant
rs968355 -- 126,804,658(-) ACCTA(C/T)CAAAA intron-variant
rs1051643 -- 126,836,307(+) TAATC(C/T)TTACC utr-variant-3-prime
rs1051644 -- 126,836,503(+) CTGTT(C/T)GGAAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LMNB1 Gene

Variant ID Type Subtype PubMed ID
nsv509084 CNV Insertion 20534489
esv2658121 CNV Deletion 23128226
esv21575 CNV Loss 19812545
esv1346080 CNV Deletion 17803354
esv2477910 CNV Deletion 19546169

Relevant External Links for LMNB1 Gene

HapMap Linkage Disequilibrium report
LMNB1
Human Gene Mutation Database (HGMD)
LMNB1

Disorders for LMNB1 Gene

(1) OMIM Diseases for LMNB1 Gene (150340)

UniProtKB/Swiss-Prot

LMNB1_HUMAN
  • Leukodystrophy, demyelinating, autosomal dominant, adult-onset (ADLD) [MIM:169500]: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. {ECO:0000269 PubMed:16951681}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for LMNB1 Gene

(10) Novoseek inferred disease relationships for LMNB1 Gene

Disease -log(P) Hits PubMed IDs
leukodystrophy 80.8 7
partial lipodystrophy 79.3 1
progeria 78.8 1
lipodystrophy 47.5 1
muscular dystrophies 45.9 1

Relevant External Links for LMNB1

Genetic Association Database (GAD)
LMNB1
Human Genome Epidemiology (HuGE) Navigator
LMNB1
genes like me logo Genes that share disorders with LMNB1: view

Publications for LMNB1 Gene

  1. Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. (PMID: 7557986) Lin F. … Worman H.J. (Genomics 1995) 2 3 4 23
  2. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. (PMID: 8838815) Wydner K.L. … Lawrence J.B. (Genomics 1996) 2 3 23
  3. Mutations in the lamin B1 gene are not present in multiple sclerosis. (PMID: 19348623) Brussino A. … Brusco A. (Eur. J. Neurol. 2009) 3 23 49
  4. Lamin B1 maintains the functional plasticity of nucleoli. (PMID: 19383719) Martin C. … Jackson D.A. (J. Cell. Sci. 2009) 3 23
  5. Circulating Lamin B1 (LMNB1) biomarker detects early stages of liver cancer in patients. (PMID: 19522540) Sun S. … Luk J.M. (J. Proteome Res. 2010) 3 23

Products for LMNB1 Gene

  • Addgene plasmids for LMNB1

Sources for LMNB1 Gene

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