Format

Send to:

Choose Destination

LMNB1 lamin B1 [ Homo sapiens (human) ]

Gene ID: 4001, updated on 5-Jul-2020

Summary

Official Symbol
LMNB1provided by HGNC
Official Full Name
lamin B1provided by HGNC
Primary source
HGNC:HGNC:6637
See related
Ensembl:ENSG00000113368 MIM:150340
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 3880 Neighboring gene membrane associated ring-CH-type finger 3 Neighboring gene uncharacterized LOC105379163

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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 TAS
Traceable Author Statement
more info
PubMed 
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
    4996..64880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001198557.2NP_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_005573.4NP_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, ENST00000261366.10
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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