UniProtKB - P20700 (LMNB1_HUMAN)
Protein
Lamin-B1
Gene
LMNB1
Organism
Homo sapiens (Human)
Status
Functioni
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.
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.
GO - Molecular functioni
- phospholipase binding Source: Ensembl
- sequence-specific double-stranded DNA binding Source: Ensembl
- structural molecule activity Source: ProtInc
GO - Biological processi
- interleukin-12-mediated signaling pathway Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | P20700 |
Reactomei | R-HSA-1221632, Meiotic synapsis R-HSA-2559584, Formation of Senescence-Associated Heterochromatin Foci (SAHF) R-HSA-2980766, Nuclear Envelope Breakdown R-HSA-2995383, Initiation of Nuclear Envelope (NE) Reformation R-HSA-352238, Breakdown of the nuclear lamina R-HSA-4419969, Depolymerisation of the Nuclear Lamina R-HSA-8862803, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models R-HSA-8950505, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
SIGNORi | P20700 |
Names & Taxonomyi
Protein namesi | Recommended name: Lamin-B1 |
Gene namesi | Name:LMNB1 Synonyms:LMN2, LMNB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6637, LMNB1 |
MIMi | 150340, gene |
neXtProti | NX_P20700 |
VEuPathDBi | HostDB:ENSG00000113368.11 |
Subcellular locationi
Nucleus
Cytoskeleton
- lamin filament Source: ProtInc
Nucleus
- lamin filament Source: ProtInc
- nuclear envelope Source: Reactome
- nuclear inner membrane Source: UniProtKB-SubCell
- nuclear matrix Source: Ensembl
- nuclear membrane Source: HPA
- nucleoplasm Source: Reactome
- nucleus Source: CAFA
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
Intermediate filament, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Leukodystrophy, demyelinating, autosomal dominant, adult-onset (ADLD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMKeywords - Diseasei
LeukodystrophyOrganism-specific databases
DisGeNETi | 4001 |
GeneReviewsi | LMNB1 |
MalaCardsi | LMNB1 |
MIMi | 169500, phenotype |
OpenTargetsi | ENSG00000113368 |
Orphaneti | 99027, Adult-onset autosomal dominant leukodystrophy |
PharmGKBi | PA30403 |
Miscellaneous databases
Pharosi | P20700, Tbio |
Genetic variation databases
BioMutai | LMNB1 |
DMDMi | 125953 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources1 Publication | |||
ChainiPRO_0000063816 | 2 – 583 | Lamin-B1Add BLAST | 582 | |
PropeptideiPRO_0000393945 | 584 – 586 | Removed in mature formCurated | 3 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources1 Publication | 1 | |
Modified residuei | 3 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 5 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 14 | Omega-N-methylarginineCombined sources | 1 | |
Modified residuei | 20 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 23 | PhosphoserineCombined sources | 1 | |
Modified residuei | 25 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 28 | PhosphoserineCombined sources | 1 | |
Cross-linki | 102 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 111 | N6-acetyllysineBy similarity | 1 | |
Cross-linki | 123 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 126 | PhosphoserineBy similarity | 1 | |
Cross-linki | 145 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 157 | N6-acetyllysine; alternateCombined sources | 1 | |
Cross-linki | 157 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 158 | PhosphoserineBy similarity | 1 | |
Cross-linki | 181 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 200 | PhosphoserineCombined sources | 1 | |
Modified residuei | 210 | PhosphoserineCombined sources | 1 | |
Modified residuei | 232 | PhosphoserineCombined sources | 1 | |
Cross-linki | 241 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 261 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 271 | N6-acetyllysine; alternateCombined sources | 1 | |
Cross-linki | 271 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 278 | PhosphoserineCombined sources | 1 | |
Modified residuei | 302 | PhosphoserineCombined sources | 1 | |
Cross-linki | 312 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Disulfide bondi | 317 | Interchain1 Publication | ||
Modified residuei | 330 | N6-acetyllysine; alternateBy similarity | 1 | |
Cross-linki | 330 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 375 | PhosphoserineCombined sources | 1 | |
Modified residuei | 413 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 483 | N6-acetyllysineCombined sources | 1 | |
Cross-linki | 532 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 534 | PhosphoserineCombined sources | 1 | |
Cross-linki | 547 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 575 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 583 | Cysteine methyl esterCurated | 1 | |
Lipidationi | 583 | S-farnesyl cysteine1 Publication | 1 |
Post-translational modificationi
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.
Keywords - PTMi
Acetylation, Disulfide bond, Isopeptide bond, Lipoprotein, Methylation, Phosphoprotein, Prenylation, Ubl conjugationProteomic databases
EPDi | P20700 |
jPOSTi | P20700 |
MassIVEi | P20700 |
MaxQBi | P20700 |
PaxDbi | P20700 |
PeptideAtlasi | P20700 |
PRIDEi | P20700 |
ProteomicsDBi | 53773 |
2D gel databases
SWISS-2DPAGEi | P20700 |
PTM databases
GlyGeni | P20700, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P20700 |
MetOSitei | P20700 |
PhosphoSitePlusi | P20700 |
SwissPalmi | P20700 |
Expressioni
Gene expression databases
Bgeei | ENSG00000113368, Expressed in ventricular zone and 184 other tissues |
ExpressionAtlasi | P20700, baseline and differential |
Genevisiblei | P20700, HS |
Organism-specific databases
HPAi | ENSG00000113368, Tissue enhanced (lymphoid) |
Interactioni
Subunit structurei
Homodimer.
Interacts with lamin-associated polypeptides IA, IB and 2.
Interacts with SPAG4 and SEPT12.
2 PublicationsBinary interactionsi
Hide detailsP20700
GO - Molecular functioni
- phospholipase binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 110187, 184 interactors |
CORUMi | P20700 |
DIPi | DIP-34897N |
IntActi | P20700, 78 interactors |
MINTi | P20700 |
STRINGi | 9606.ENSP00000261366 |
Miscellaneous databases
RNActi | P20700, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P20700 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P20700 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 32 – 388 | IF rodPROSITE-ProRule annotationAdd BLAST | 357 | |
Domaini | 430 – 546 | LTDPROSITE-ProRule annotationAdd BLAST | 117 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2 – 34 | HeadAdd BLAST | 33 | |
Regioni | 35 – 69 | Coil 1AAdd BLAST | 35 | |
Regioni | 70 – 81 | Linker 1Add BLAST | 12 | |
Regioni | 82 – 215 | Coil 1BAdd BLAST | 134 | |
Regioni | 216 – 243 | Linker 2Add BLAST | 28 | |
Regioni | 244 – 386 | Coil 2Add BLAST | 143 | |
Regioni | 387 – 586 | TailAdd BLAST | 200 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 415 – 420 | Nuclear localization signalSequence analysis | 6 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 552 – 559 | Glu-rich (highly acidic; could be involved in chromatin binding) | 8 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0977, Eukaryota |
GeneTreei | ENSGT00940000157199 |
HOGENOMi | CLU_012560_9_2_1 |
InParanoidi | P20700 |
OMAi | ERAWLQI |
OrthoDBi | 701388at2759 |
PhylomeDBi | P20700 |
TreeFami | TF101181 |
Family and domain databases
Gene3Di | 1.20.5.1160, 2 hits 2.60.40.1260, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR001322, Lamin_tail_dom IPR036415, Lamin_tail_dom_sf |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF00932, LTD, 1 hit |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
SUPFAMi | SSF74853, SSF74853, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit PS51841, LTD, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
P20700-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MATATPVPPR MGSRAGGPTT PLSPTRLSRL QEKEELRELN DRLAVYIDKV
60 70 80 90 100
RSLETENSAL QLQVTEREEV RGRELTGLKA LYETELADAR RALDDTARER
110 120 130 140 150
AKLQIELGKC KAEHDQLLLN YAKKESDLNG AQIKLREYEA ALNSKDAALA
160 170 180 190 200
TALGDKKSLE GDLEDLKDQI AQLEASLAAA KKQLADETLL KVDLENRCQS
210 220 230 240 250
LTEDLEFRKS MYEEEINETR RKHETRLVEV DSGRQIEYEY KLAQALHEMR
260 270 280 290 300
EQHDAQVRLY KEELEQTYHA KLENARLSSE MNTSTVNSAR EELMESRMRI
310 320 330 340 350
ESLSSQLSNL QKESRACLER IQELEDLLAK EKDNSRRMLT DKEREMAEIR
360 370 380 390 400
DQMQQQLNDY EQLLDVKLAL DMEISAYRKL LEGEEERLKL SPSPSSRVTV
410 420 430 440 450
SRASSSRSVR TTRGKRKRVD VEESEASSSV SISHSASATG NVCIEEIDVD
460 470 480 490 500
GKFIRLKNTS EQDQPMGGWE MIRKIGDTSV SYKYTSRYVL KAGQTVTIWA
510 520 530 540 550
ANAGVTASPP TDLIWKNQNS WGTGEDVKVI LKNSQGEEVA QRSTVFKTTI
560 570 580
PEEEEEEEEA AGVVVEEELF HQQGTPRASN RSCAIM
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PBF6 | E9PBF6_HUMAN | Lamin-B1 | LMNB1 | 387 | Annotation score: | ||
A0A0D9SFE5 | A0A0D9SFE5_HUMAN | Lamin B1, isoform CRA_a | LMNB1 hCG_27033 | 329 | Annotation score: | ||
A0A0D9SFY5 | A0A0D9SFY5_HUMAN | Lamin-B1 | LMNB1 | 166 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 382 | E → Q in AAH12295 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071077 | 436 | A → V Found in a family with amyotrophic lateral sclerosis carrying a probable causative mutation in MATR3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1380634377Ensembl. | 1 | |
Natural variantiVAR_031646 | 501 | A → V. Corresponds to variant dbSNP:rs36105360EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M34458 mRNA Translation: AAA36162.1 L37747 , L37737, L37738, L37739, L37740, L37741, L37742, L37743, L37744, L37745, L37746 Genomic DNA Translation: AAC37575.1 AK312603 mRNA Translation: BAG35493.1 CH471086 Genomic DNA Translation: EAW48846.1 BC012295 mRNA Translation: AAH12295.1 BC103723 mRNA Translation: AAI03724.1 |
CCDSi | CCDS4140.1 |
PIRi | A34707, VEHULB |
RefSeqi | NP_005564.1, NM_005573.3 |
Genome annotation databases
Ensembli | ENST00000261366; ENSP00000261366; ENSG00000113368 |
GeneIDi | 4001 |
KEGGi | hsa:4001 |
UCSCi | uc003kud.3, human |
Keywords - Coding sequence diversityi
Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M34458 mRNA Translation: AAA36162.1 L37747 , L37737, L37738, L37739, L37740, L37741, L37742, L37743, L37744, L37745, L37746 Genomic DNA Translation: AAC37575.1 AK312603 mRNA Translation: BAG35493.1 CH471086 Genomic DNA Translation: EAW48846.1 BC012295 mRNA Translation: AAH12295.1 BC103723 mRNA Translation: AAI03724.1 |
CCDSi | CCDS4140.1 |
PIRi | A34707, VEHULB |
RefSeqi | NP_005564.1, NM_005573.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2KPW | NMR | - | A | 439-549 | [»] | |
3JT0 | X-ray | 2.39 | A/B | 426-558 | [»] | |
3TYY | X-ray | 2.40 | A/B | 311-388 | [»] | |
3UMN | X-ray | 2.00 | A/B/C | 428-550 | [»] | |
5VVX | X-ray | 2.90 | B/D | 389-401 | [»] | |
SMRi | P20700 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110187, 184 interactors |
CORUMi | P20700 |
DIPi | DIP-34897N |
IntActi | P20700, 78 interactors |
MINTi | P20700 |
STRINGi | 9606.ENSP00000261366 |
PTM databases
GlyGeni | P20700, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P20700 |
MetOSitei | P20700 |
PhosphoSitePlusi | P20700 |
SwissPalmi | P20700 |
Genetic variation databases
BioMutai | LMNB1 |
DMDMi | 125953 |
2D gel databases
SWISS-2DPAGEi | P20700 |
Proteomic databases
EPDi | P20700 |
jPOSTi | P20700 |
MassIVEi | P20700 |
MaxQBi | P20700 |
PaxDbi | P20700 |
PeptideAtlasi | P20700 |
PRIDEi | P20700 |
ProteomicsDBi | 53773 |
Protocols and materials databases
ABCDi | P20700, 3 sequenced antibodies |
Antibodypediai | 3937, 786 antibodies |
CPTCi | P20700, 2 antibodies |
DNASUi | 4001 |
Genome annotation databases
Ensembli | ENST00000261366; ENSP00000261366; ENSG00000113368 |
GeneIDi | 4001 |
KEGGi | hsa:4001 |
UCSCi | uc003kud.3, human |
Organism-specific databases
CTDi | 4001 |
DisGeNETi | 4001 |
GeneCardsi | LMNB1 |
GeneReviewsi | LMNB1 |
HGNCi | HGNC:6637, LMNB1 |
HPAi | ENSG00000113368, Tissue enhanced (lymphoid) |
MalaCardsi | LMNB1 |
MIMi | 150340, gene 169500, phenotype |
neXtProti | NX_P20700 |
OpenTargetsi | ENSG00000113368 |
Orphaneti | 99027, Adult-onset autosomal dominant leukodystrophy |
PharmGKBi | PA30403 |
VEuPathDBi | HostDB:ENSG00000113368.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0977, Eukaryota |
GeneTreei | ENSGT00940000157199 |
HOGENOMi | CLU_012560_9_2_1 |
InParanoidi | P20700 |
OMAi | ERAWLQI |
OrthoDBi | 701388at2759 |
PhylomeDBi | P20700 |
TreeFami | TF101181 |
Enzyme and pathway databases
PathwayCommonsi | P20700 |
Reactomei | R-HSA-1221632, Meiotic synapsis R-HSA-2559584, Formation of Senescence-Associated Heterochromatin Foci (SAHF) R-HSA-2980766, Nuclear Envelope Breakdown R-HSA-2995383, Initiation of Nuclear Envelope (NE) Reformation R-HSA-352238, Breakdown of the nuclear lamina R-HSA-4419969, Depolymerisation of the Nuclear Lamina R-HSA-8862803, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models R-HSA-8950505, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
SIGNORi | P20700 |
Miscellaneous databases
BioGRID-ORCSi | 4001, 63 hits in 1002 CRISPR screens |
ChiTaRSi | LMNB1, human |
EvolutionaryTracei | P20700 |
GeneWikii | LMNB1 |
GenomeRNAii | 4001 |
Pharosi | P20700, Tbio |
PROi | PR:P20700 |
RNActi | P20700, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000113368, Expressed in ventricular zone and 184 other tissues |
ExpressionAtlasi | P20700, baseline and differential |
Genevisiblei | P20700, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 2 hits 2.60.40.1260, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR001322, Lamin_tail_dom IPR036415, Lamin_tail_dom_sf |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF00932, LTD, 1 hit |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
SUPFAMi | SSF74853, SSF74853, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit PS51841, LTD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LMNB1_HUMAN | |
Accessioni | P20700Primary (citable) accession number: P20700 Secondary accession number(s): B2R6J6, Q3SYN7, Q96EI6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1991 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 216 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families