LBR lamin B receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: LBRprovided by HGNC
Official Full Name: lamin B receptorprovided by HGNC
Primary source: HGNC:HGNC:6518
See related: Ensembl:ENSG00000143815 MIM:600024; AllianceGenome:HGNC:6518
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: PHA; C14SR; LMN2R; PHASK; TDRD18; DHCR14B
Summary: The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 40.2), bone marrow (RPKM 33.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.12

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (225401502..225428821, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (224589793..224617112, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (225589204..225616523, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Upregulated expression of lamin B receptor increases cell proliferation and suppresses genomic instability: implications for cellular immortalization.
Title: Upregulated expression of lamin B receptor increases cell proliferation and suppresses genomic instability: implications for cellular immortalization.
Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.
Title: Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.
Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
Title: Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
Title: Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.
Title: Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.
Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome.
Title: Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome.
Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
Title: Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.
Title: Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.
TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huet anomaly.
Title: A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Greenberg dysplasia MedGen: C2931048 OMIM: 215140 GeneReviews: Not available	Compare labs
Pelger-Huet anomaly MedGen: C0030779 OMIM: 169400 GeneReviews: Not available	Compare labs
Regressive spondylometaphyseal dysplasia MedGen: C4747922 OMIM: 618019 GeneReviews: Not available	Compare labs
Reynolds syndrome MedGen: C0748397 OMIM: 613471 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of HIV-1 Tat with lamin B receptor in T-cells is identified by a proteomic strategy based on affinity chromatography	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12892 (e-PCR)
- UniSTS:28978

D8S2279 (e-PCR)
- UniSTS:473907

RH103821 (e-PCR)
- UniSTS:98146

RH64516 (e-PCR)
- UniSTS:1390

SHGC-76434 (e-PCR)
- UniSTS:6529

LBR_8434 (e-PCR)
- UniSTS:471477

SHGC-80004 (e-PCR)
- UniSTS:101627

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables NADPH binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables chromatin-protein adaptor activity	IEA Inferred from Electronic Annotation more info
enables chromo shadow domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables delta14-sterol reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables delta14-sterol reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables delta14-sterol reductase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables delta14-sterol reductase activity	TAS Traceable Author Statement more info
enables lamin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol biosynthetic process	TAS Traceable Author Statement more info
involved_in neutrophil differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in random inactivation of X chromosome	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nuclear inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear lamina	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: delta(14)-sterol reductase LBR

Names: 3-beta-hydroxysterol Delta (14)-reductase; C-14 sterol reductase; delta-14-SR; integral nuclear envelope inner membrane protein; sterol C14-reductase; tudor domain containing 18

NP_002287.2

EC 1.3.1.70

NP_919424.1

EC 1.3.1.70

XP_005273182.1

EC 1.3.1.70

XP_011542487.1

EC 1.3.1.70

XP_047276332.1

EC 1.3.1.70

XP_047276333.1

EC 1.3.1.70

XP_047276342.1

EC 1.3.1.70

XP_054192529.1

EC 1.3.1.70

XP_054192530.1

EC 1.3.1.70

XP_054192531.1

EC 1.3.1.70

XP_054192532.1

EC 1.3.1.70

XP_054192533.1

EC 1.3.1.70

NCBI Reference Sequences (RefSeq)

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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

NG_008099.1 RefSeqGene

Range

5780..32316

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002296.4 → NP_002287.2 delta(14)-sterol reductase LBR

See identical proteins and their annotated locations for NP_002287.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AU134026, BC020079, L25931

Consensus CDS

CCDS1545.1

UniProtKB/Swiss-Prot

B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6

Related

ENSP00000272163.4, ENST00000272163.9

Conserved Domains (2) summary

pfam09465
Location:1 → 55

LBR_tudor; Lamin-B receptor of TUDOR domain

cl21511
Location:205 → 615

PEMT; Phospholipid methyltransferase
NM_194442.3 → NP_919424.1 delta(14)-sterol reductase LBR

See identical proteins and their annotated locations for NP_919424.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

BC020079, DA447510, DB091880, L25931

Consensus CDS

CCDS1545.1

UniProtKB/Swiss-Prot

B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6

Related

ENSP00000339883.2, ENST00000338179.6

Conserved Domains (2) summary

pfam09465
Location:1 → 55

LBR_tudor; Lamin-B receptor of TUDOR domain

cl21511
Location:205 → 615

PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

225401502..225428821 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420376.1 → XP_047276332.1 delta(14)-sterol reductase LBR isoform X2
XM_005273125.4 → XP_005273182.1 delta(14)-sterol reductase LBR isoform X2

Conserved Domains (2) summary

pfam09465
Location:1 → 55

LBR_tudor; Lamin-B receptor of TUDOR domain

cl21511
Location:205 → 573

PEMT; Phospholipid methyltransferase
XM_047420377.1 → XP_047276333.1 delta(14)-sterol reductase LBR isoform X2
XM_011544185.4 → XP_011542487.1 delta(14)-sterol reductase LBR isoform X1

See identical proteins and their annotated locations for XP_011542487.1

UniProtKB/Swiss-Prot

B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6

Conserved Domains (2) summary

pfam09465
Location:1 → 55

LBR_tudor; Lamin-B receptor of TUDOR domain

cl21511
Location:205 → 615

PEMT; Phospholipid methyltransferase
XM_047420386.1 → XP_047276342.1 delta(14)-sterol reductase LBR isoform X3

Related

ENSP00000499114.1, ENST00000651341.1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

224589793..224617112 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336556.1 → XP_054192531.1 delta(14)-sterol reductase LBR isoform X2
XM_054336555.1 → XP_054192530.1 delta(14)-sterol reductase LBR isoform X2
XM_054336557.1 → XP_054192532.1 delta(14)-sterol reductase LBR isoform X2
XM_054336554.1 → XP_054192529.1 delta(14)-sterol reductase LBR isoform X1

UniProtKB/Swiss-Prot

B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
XM_054336558.1 → XP_054192533.1 delta(14)-sterol reductase LBR isoform X3