• Gene id: 4001

Gene Summary

• Gene Symbol: LMNB1   Gene   UCSC   Ensembl
• Aliases: ADLD, LMN, LMN2, LMNB
• Gene name: lamin B1
• Alternate names: lamin-B1,
• Gene location: 5q23.2 (126776622: 126837019)     Exons: 12     NC_000005.10
• Gene summary(Entrez): 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 varian
• OMIM: 150340

Protein Summary

• Protein general information: P20700  
  • Name: Lamin B1
  • Length: 586  
  • Mass: 66408
• Sequence:

  MATATPVPPRMGSRAGGPTTPLSPTRLSRLQEKEELRELNDRLAVYIDKVRSLETENSALQLQVTEREEVRGREL
  TGLKALYETELADARRALDDTARERAKLQIELGKCKAEHDQLLLNYAKKESDLNGAQIKLREYEAALNSKDAALA
  TALGDKKSLEGDLEDLKDQIAQLEASLAAAKKQLADETLLKVDLENRCQSLTEDLEFRKSMYEEEINETRRKHET
  RLVEVDSGRQIEYEYKLAQALHEMREQHDAQVRLYKEELEQTYHAKLENARLSSEMNTSTVNSAREELMESRMRI
  ESLSSQLSNLQKESRACLERIQELEDLLAKEKDNSRRMLTDKEREMAEIRDQMQQQLNDYEQLLDVKLALDMEIS
  AYRKLLEGEEERLKLSPSPSSRVTVSRASSSRSVRTTRGKRKRVDVEESEASSSVSISHSASATGNVCIEEIDVD
  GKFIRLKNTSEQDQPMGGWEMIRKIGDTSVSYKYTSRYVLKAGQTVTIWAANAGVTASPPTDLIWKNQNSWGTGE
  DVKVILKNSQGEEVAQRSTVFKTTIPEEEEEEEEAAGVVVEEELFHQQGTPRASNRSCAIM

• Structural information:
  • Protein Domains: (32..38-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188-)
    (430..54-)
    (/note="LTD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01187"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR001322  IPR036415  
  • Prosite: PS00226 PS51842 PS51841
  • PDB: 2KPW 3JT0 3TYY 3UMN 5VVX
  • PDBsum: 2KPW 3JT0 3TYY 3UMN 5VVX
  • DIP: 34897
  • STRING: ENSP00000261366
• Other Databases: GeneCards:  LMNB1  Malacards:  LMNB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005882	intermediate filament	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005198	structural molecule activity	TAS	molecular function
GO:0005638	lamin filament	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:1990837	sequence-specific double-stranded DNA binding	IEA	molecular function
GO:0043274	phospholipase binding	IEA	molecular function
GO:0005638	lamin filament	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005635	nuclear envelope	IDA	colocalizes with
GO:0016020	membrane	HDA	cellular component
GO:0031965	nuclear membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis

Diseases

Associated diseases	References
Adult-onset autosomal dominant leukodystrophy	KEGG:H01230
Adult-onset autosomal dominant leukodystrophy	KEGG:H01230
Leukodystrophy	PMID:16951681
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray