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    Lbr lamin B receptor [ Mus musculus (house mouse) ]

    Gene ID: 98386, updated on 9-Dec-2024

    Summary

    Official Symbol
    Lbrprovided by MGI
    Official Full Name
    lamin B receptorprovided by MGI
    Primary source
    MGI:MGI:2138281
    See related
    Ensembl:ENSMUSG00000004880 AllianceGenome:MGI:2138281
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ic; C14SR
    Summary
    Enables chromatin-protein adaptor activity and delta14-sterol reductase activity. Involved in cholesterol biosynthetic process; neutrophil differentiation; and random inactivation of X chromosome. Located in nuclear membrane. Is active in nuclear lamina. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver. Used to study Pelger-Huet anomaly; ichthyosis vulgaris; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in thymus adult (RPKM 51.5), liver E14 (RPKM 40.4) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Lbr in Genome Data Viewer
    Location:
    1 H5; 1 84.89 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (181642880..181669933, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (181815315..181842401, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene dynein, axonemal, heavy chain 14 Neighboring gene STARR-seq mESC enhancer starr_03241 Neighboring gene predicted gene, 33612 Neighboring gene STARR-seq mESC enhancer starr_03242 Neighboring gene predicted gene, 23690 Neighboring gene STARR-positive B cell enhancer ABC_E5877 Neighboring gene STARR-positive B cell enhancer ABC_E3345 Neighboring gene STARR-seq mESC enhancer starr_03245 Neighboring gene predicted gene 5533 Neighboring gene predicted gene, 33669

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables NADPH binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables NADPH binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chromatin-protein adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables chromo shadow domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromo shadow domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables delta14-sterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables delta14-sterol reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables delta14-sterol reductase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables nuclear localization sequence binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-folding chaperone binding ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neutrophil differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in random inactivation of X chromosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nuclear inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear inner membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in nuclear lamina IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear lamina TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of nuclear pore ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    delta(14)-sterol reductase LBR
    Names
    3-beta-hydroxysterol Delta (14)-reductase
    C-14 sterol reductase
    delta-14-SR
    ichthyosis
    integral nuclear envelope inner membrane protein
    sterol C14-reductase
    NP_001408120.1
    NP_001408121.1
    NP_001408122.1
    NP_001408123.1
    NP_001408124.1
    NP_001408125.1
    NP_001408126.1
    NP_598576.2
    XP_006497133.1

    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.

    mRNA and Protein(s)

    1. NM_001421191.1NP_001408120.1  delta(14)-sterol reductase LBR isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC165229
      UniProtKB/Swiss-Prot
      Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
    2. NM_001421192.1NP_001408121.1  delta(14)-sterol reductase LBR isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC165229
      UniProtKB/Swiss-Prot
      Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
    3. NM_001421193.1NP_001408122.1  delta(14)-sterol reductase LBR isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC165229
      UniProtKB/Swiss-Prot
      Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
    4. NM_001421194.1NP_001408123.1  delta(14)-sterol reductase LBR isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC165229
      UniProtKB/Swiss-Prot
      Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
    5. NM_001421195.1NP_001408124.1  delta(14)-sterol reductase LBR isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC165229
    6. NM_001421196.1NP_001408125.1  delta(14)-sterol reductase LBR isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC165229
    7. NM_001421197.1NP_001408126.1  delta(14)-sterol reductase LBR isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC165229
    8. NM_133815.3NP_598576.2  delta(14)-sterol reductase LBR isoform 1

      See identical proteins and their annotated locations for NP_598576.2

      Status: VALIDATED

      Source sequence(s)
      AC165229
      Consensus CDS
      CCDS15584.1
      UniProtKB/Swiss-Prot
      Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
      Related
      ENSMUSP00000005003.7, ENSMUST00000005003.12
      Conserved Domains (2) summary
      pfam09465
      Location:155
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:216626
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      181642880..181669933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497070.5XP_006497133.1  delta(14)-sterol reductase LBR isoform X1

      See identical proteins and their annotated locations for XP_006497133.1

      UniProtKB/Swiss-Prot
      Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
      Conserved Domains (2) summary
      pfam09465
      Location:155
      LBR_tudor; Lamin-B receptor of TUDOR domain
      cl21511
      Location:216626
      PEMT; Phospholipid methyltransferase