Format

Send to:

Choose Destination
    • Showing Current items.

    LBR lamin B receptor [ Homo sapiens (human) ]

    Gene ID: 3930, updated on 8-Jul-2021

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LBR in Genome Data Viewer
    Location:
    1q42.12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (225401502..225428821, complement)
    105.20201022 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 LOC105373108 Neighboring gene uncharacterized LOC105373109 Neighboring gene dynein axonemal heavy chain 14 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11936 Neighboring gene long intergenic non-protein coding RNA 2765

    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

    Associated conditions

    Description Tests
    Greenberg dysplasia
    MedGen: C2931048 OMIM: 215140 GeneReviews: Not available
    Compare labs
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available
    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC9041, FLJ43126

    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 PubMed 
    enables chromo shadow domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 oxidoreductase activity, acting on the CH-CH group of donors IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 sterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of nuclear inner membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA 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
    PubMed 
    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

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4963..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
      Q14739
      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
      Q14739
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005273125.3XP_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
    2. XM_011544185.3XP_011542487.1  delta(14)-sterol reductase LBR isoform X1

      See identical proteins and their annotated locations for XP_011542487.1

      UniProtKB/Swiss-Prot
      Q14739
      Conserved Domains (2) summary
      pfam09465
      Location:155
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:205615
      PEMT; Phospholipid methyltransferase

    RNA

    1. XR_001737168.2 RNA Sequence

    Support Center