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

Gene ID: 98386, updated on 5-Jan-2023

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 delta14-sterol reductase activity. Involved in cholesterol biosynthetic process and neutrophil differentiation. Located in nuclear membrane. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system gland; liver; and lung. 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, Apr 2022]
Expression
Broad expression in thymus adult (RPKM 51.5), liver E14 (RPKM 40.4) and 26 other tissues See more
Orthologs
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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
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (181642880..181669966, 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 predicted gene, 33612 Neighboring gene predicted gene, 23690 Neighboring gene predicted gene, 33669 Neighboring gene ENAH actin regulator Neighboring gene small nuclear ribonucleoprotein G pseudogene

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

Homology

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 chaperone binding ISO
Inferred from Sequence Orthology
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
PubMed 
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 oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
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
PubMed 
located_in nuclear inner membrane TAS
Traceable Author Statement
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
 

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_598576.2
XP_006497133.1
XP_006497134.1
XP_017168530.1

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.

mRNA and Protein(s)

  1. NM_133815.2NP_598576.2  delta(14)-sterol reductase LBR

    See identical proteins and their annotated locations for NP_598576.2

    Status: VALIDATED

    Source sequence(s)
    AK167157, BB849128, BE991506
    Consensus CDS
    CCDS15584.1
    UniProtKB/Swiss-Prot
    Q3U9G9, 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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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..181669966 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
    Q3U9G9, Q91Z27
    Conserved Domains (2) summary
    pfam09465
    Location:155
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:216626
    PEMT; Phospholipid methyltransferase
  2. XM_006497071.4XP_006497134.1  delta(14)-sterol reductase LBR isoform X1

    See identical proteins and their annotated locations for XP_006497134.1

    UniProtKB/Swiss-Prot
    Q3U9G9, Q91Z27
    Conserved Domains (2) summary
    pfam09465
    Location:155
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:216626
    PEMT; Phospholipid methyltransferase
  3. XM_017313041.1XP_017168530.1  delta(14)-sterol reductase LBR isoform X1

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