LMNB1 - lamin B1 Gene
Also Known as LMN; ADLD; LMN2; LMNB; MCPH26
Species: Homo sapiens
About LMNB1
This gene has 8 transcripts (splice variants), 188 orthologues, 68 paralogues and is associated with 5 phenotypes. Broad expression in lymph node (RPKM 25.5), appendix (RPKM 22.1) and 18 other tissues.
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]
LMNB1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001198557.2 | NP_001185486.1 | lamin-B1 isoform 2 |
| NM_005573.4 | NP_005564.1 | lamin-B1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21346760 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in nuclear envelope organization |
IMP
IMP: Inferred from mutant phenotype
|
32910914 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| colocalizes with nuclear envelope |
IDA
IDA: Inferred from direct assay
|
21610090 | GOA |
| located in nuclear lamina |
IMP
IMP: Inferred from mutant phenotype
|
32910914 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10791971 | GOA |
LMNB1 Protein Structure
Filament: Intermediate filament protein (31 - 387)
LTD: Lamin Tail Domain (434 - 546)
- 0
- 100
- 200
- 300
- 400
- 500
- 586 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
lamin-B1 |
|
LMNB1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
LMNB1 | P20700 | CENPH | Homo sapiens | Q9H3R5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | CENPH | Homo sapiens | Q9H3R5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | CENPH | Homo sapiens | Q9H3R5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | PIH1D2 | Homo sapiens | Q8WWB5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | PIH1D2 | Homo sapiens | Q8WWB5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | PIH1D2 | Homo sapiens | Q8WWB5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | PPP1R13B | Homo sapiens | Q96KQ4 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | PPP1R13B | Homo sapiens | Q96KQ4 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | PPP1R13B | Homo sapiens | Q96KQ4 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | TP53BP2 | Homo sapiens | Q05BL1 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | TP53BP2 | Homo sapiens | Q05BL1 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | TP53BP2 | Homo sapiens | Q05BL1 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | FAM169A | Homo sapiens | Q9Y6X4 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | FAM169A | Homo sapiens | Q9Y6X4 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | FAM169A | Homo sapiens | Q9Y6X4 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | LMNB2 | Homo sapiens | Q03252 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | LMNB2 | Homo sapiens | Q03252 | 35271311 | |
|
Intra
|
LMNB1 | P20700 | LMNB2 | Homo sapiens | Q03252 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | LMNB2 | Homo sapiens | Q03252 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | LMNB2 | Homo sapiens | Q03252 | 26524528 | |
|
Intra
|
LMNB1 | P20700 | SNAPIN | Homo sapiens | O95295 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | SNAPIN | Homo sapiens | O95295 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | CCDC88B | Homo sapiens | A6NC98 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | CCDC88B | Homo sapiens | A6NC98 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | LMNA | Homo sapiens | P02545 | 35271311 | |
|
Intra
|
LMNB1 | P20700 | LMNA | Homo sapiens | P02545 | 37398436 | |
|
Intra
|
LMNB1 | P20700 | LMNA | Homo sapiens | P02545 | 37398436 | |
|
Intra
|
LMNB1 | P20700 | LMNA | Homo sapiens | P02545 | 21988832 | |
|
Intra
|
LMNB1 | P20700 | LMNA | Homo sapiens | P02545-1 | 26524528 | |
|
Intra
|
LMNB1 | P20700 | LMNA | Homo sapiens | P02545-1 | 26524528 | |
|
Intra
|
LMNB1 | P20700 | LMNA | Homo sapiens | P02545-1 | 21346760 | |
|
Intra
|
LMNB1 | P20700 | KPNA1 | Homo sapiens | P52294 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | KPNA1 | Homo sapiens | P52294 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | KPNA1 | Homo sapiens | P52294 | 35271311 | |
|
Intra
|
LMNB1 | P20700 | KPNA1 | Homo sapiens | P52294 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | KPNA6 | Homo sapiens | O60684 | 35271311 | |
|
Intra
|
LMNB1 | P20700 | KPNA6 | Homo sapiens | O60684 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | KPNA6 | Homo sapiens | O60684 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | MAP1LC3B | Homo sapiens | Q9GZQ8 | 26524528 | |
|
Intra
|
LMNB1 | P20700 | DMAP1 | Homo sapiens | Q9NPF5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | DMAP1 | Homo sapiens | Q9NPF5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | DMAP1 | Homo sapiens | Q9NPF5 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | KPNA5 | Homo sapiens | O15131 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | KPNA5 | Homo sapiens | O15131 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | M1AP | Homo sapiens | Q8TC57 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | M1AP | Homo sapiens | Q8TC57 | 32296183 | |
|
Intra
|
LMNB1 | P20700 | M1AP | Homo sapiens | Q8TC57 | 32296183 |
LMNB1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80205 | Lamin B1 Antibody (YA313) | WB, IHC-P, IF-Tissue | Human, Mouse, Rat |
| HY-P84174 | Lamin B1 Antibody (YA3871) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat |
| HY-P84174A | Lamin B1 Antibody (YA3871)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat |
| HY-P85637 | Lamin B1 Antibody (YA5329) | WB | Human, Mouse, Monkey |
| HY-P85645 | Lamin B1 Antibody(HRP) (YA5337) | WB, IHC-P | Human, Rat, Mouse |
| HY-P85651 | Lamin B1 Antibody (YA5343) | WB, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
| HY-P86574 | Lamin B1 Antibody (YA6266) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
| HY-P86667 | lamin B1 Antibody (YA6359) | WB, IHC-P, IHC-F, ICC/IF, IF-Tissue, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
|
| Microcephaly 26, Primary, Autosomal Dominant |
|
|
| Microcephaly, Autosomal Dominant |
|
|
| Leukodystrophy |
|
|
| Hutchinson-Gilford Progeria Syndrome |
|
|
| Lmnb1-Related Autosomal Dominant Leukodystrophy |
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
|
| Familial Partial Lipodystrophy |
|
|
| Reynolds Syndrome |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Lipodystrophy, Familial Partial, Type 2 |
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
|
| Greenberg Dysplasia |
|
|
| Muscular Dystrophy |
|
|
| Pelger-Huet Anomaly |
|
|
| Multiple Sclerosis |
|
|
| Partial Third-Nerve Palsy |
|
|
| Monocular Esotropia |
|
|
| Buschke-Ollendorff Syndrome |
|
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
|
| Nonencapsulated Sclerosing Carcinoma |
|
|
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
|
| Neural Tube Defects |
|
|
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
|
| Microcephaly |
|
|
| Cardiomyopathy, Dilated, 1h |
|
|
| Cerebral Degeneration |
|
|
| Osteopoikilosis |
|
|
| Burkitt Lymphoma |
|
|
| Hyperoxaluria, Primary, Type I |
|
|
| Cardiomyopathy, Dilated, 1a |
|
|
| Primary Hyperoxaluria |
|
|
| Dystonia |
|
|
| Muscle Tissue Disease |
|
|
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Systemic Lupus Erythematosus |
|
|
| Dilated Cardiomyopathy |
|
|
| Neuromuscular Disease |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Myopathy |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | LMNB1 | RGD | RGD:620522 |
| Felis catus | LMNB1 | VGNC | VGNC:68067 |
| Bos taurus | LMNB1 | VGNC | VGNC:30930 |
| Canis familiaris | LMNB1 | VGNC | VGNC:42718 |
| Mus musculus | LMNB1 | MGD | MGI:96795 |
| Macaca mulatta | LMNB1 | VGNC | VGNC:74428 |
| Others | LMNB1 | NCBI |