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    LBR lamin B receptor [ Homo sapiens (human) ]

    Gene ID: 3930, updated on 9-Jul-2017
    Official Symbol
    LBRprovided by HGNC
    Official Full Name
    lamin B receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6518
    See related
    Ensembl:ENSG00000143815 MIM:600024; Vega:OTTHUMG00000037520
    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; LMN2R; 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]
    Orthologs
    Location:
    1q42.12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (225401502..225428855, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225589204..225616557, 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 uncharacterized LOC105373110 Neighboring gene ENAH, actin regulator

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Greenberg dysplasia
    MedGen: C1300226 OMIM: 215140 GeneReviews: Not available
    Compare labs
    Pelger-Huet anomaly
    MedGen: C0030779 OMIM: 169400 GeneReviews: Not available
    Compare labs
    Reynolds syndrome
    MedGen: C0748397 OMIM: 613471 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC9041, FLJ43126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromo shadow domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    delta14-sterol reductase activity TAS
    Traceable Author Statement
    more info
     
    lamin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidoreductase activity, acting on the CH-CH group of donors IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    sterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    NOT integral component of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of nuclear inner membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope TAS
    Traceable Author Statement
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    lamin-B receptor
    Names
    integral nuclear envelope inner membrane protein
    tudor domain containing 18

    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_002296.3NP_002287.2  lamin-B receptor

      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, OTTHUMP00000035631, ENST00000272163.8, OTTHUMT00000091398
      Conserved Domains (2) summary
      pfam09465
      Location:155
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:205615
      PEMT; Phospholipid methyltransferase
    2. NM_194442.2NP_919424.1  lamin-B receptor

      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      225401502..225428855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273125.2XP_005273182.1  lamin-B receptor 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_011544185.2XP_011542487.1  lamin-B receptor 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_001737168.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      226861554..226888910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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