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LBR lamin B receptor [ Homo sapiens (human) ]

Gene ID: 3930, updated on 4-Jan-2025

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
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Genomic context

See LBR in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373109 Neighboring gene uncharacterized LOC124904524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1854 Neighboring gene dynein axonemal heavy chain 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225333859-225334360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225334361-225334860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1855 Neighboring gene MPRA-validated peak726 silencer Neighboring gene MPRA-validated peak727 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2619 Neighboring gene uncharacterized LOC124904525 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614150-225614822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614823-225615494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634414-225634974 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11936 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225633853-225634413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634975-225635534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225643575-225644075 Neighboring gene Sharpr-MPRA regulatory region 13241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225648195-225648876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225653249-225654138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660151-225660670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660671-225661190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2627 Neighboring gene uncharacterized LOC124904526 Neighboring gene long intergenic non-protein coding RNA 2765 Neighboring gene ENAH actin regulator

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC9041, FLJ43126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding  
enables NADPH binding PubMed 
enables RNA binding PubMed 
enables chromatin-protein adaptor activity  
enables chromo shadow domain binding PubMed 
enables delta14-sterol reductase activity  
enables delta14-sterol reductase activity PubMed 
enables delta14-sterol reductase activity PubMed 
enables delta14-sterol reductase activity  
enables lamin binding PubMed 
enables protein binding PubMed 
Component Evidence Code Pubs
located_in cytoplasm PubMed 
located_in endoplasmic reticulum membrane PubMed 
located_in membrane PubMed 
located_in membrane PubMed 
located_in nuclear envelope  
is_active_in nuclear inner membrane  
is_active_in nuclear inner membrane PubMed 
located_in nuclear lamina  
located_in nuclear membrane  
located_in nucleus PubMed 

General protein information

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
NP_919424.1
XP_005273182.1
XP_011542487.1
XP_047276332.1
XP_047276333.1
XP_047276342.1
XP_054192529.1
XP_054192530.1
XP_054192531.1
XP_054192532.1
XP_054192533.1

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

  1. NG_008099.1 RefSeqGene

    Range
    5780..32316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002296.4NP_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:155
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205615
    PEMT; Phospholipid methyltransferase
  2. NM_194442.3NP_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:155
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205615
    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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    225401502..225428821 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420376.1XP_047276332.1  delta(14)-sterol reductase LBR isoform X2

  2. XM_005273125.4XP_005273182.1  delta(14)-sterol reductase LBR isoform X2

    Conserved Domains (2) summary
    pfam09465
    Location:155
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205573
    PEMT; Phospholipid methyltransferase
  3. XM_047420377.1XP_047276333.1  delta(14)-sterol reductase LBR isoform X2

  4. XM_011544185.4XP_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:155
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:205615
    PEMT; Phospholipid methyltransferase
  5. XM_047420386.1XP_047276342.1  delta(14)-sterol reductase LBR isoform X3

    UniProtKB/TrEMBL
    A0A494C1L1
    Related
    ENSP00000499114.1, ENST00000651341.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    224589793..224617112 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336556.1XP_054192531.1  delta(14)-sterol reductase LBR isoform X2

  2. XM_054336555.1XP_054192530.1  delta(14)-sterol reductase LBR isoform X2

  3. XM_054336557.1XP_054192532.1  delta(14)-sterol reductase LBR isoform X2

  4. XM_054336554.1XP_054192529.1  delta(14)-sterol reductase LBR isoform X1

    UniProtKB/Swiss-Prot
    B2R5P3, Q14739, Q14740, Q53GU7, Q59FE6
  5. XM_054336558.1XP_054192533.1  delta(14)-sterol reductase LBR isoform X3

    UniProtKB/TrEMBL
    A0A494C1L1
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