Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    Ldlr low density lipoprotein receptor [ Mus musculus (house mouse) ]

    Gene ID: 16835, updated on 13-May-2017
    Official Symbol
    Ldlrprovided by MGI
    Official Full Name
    low density lipoprotein receptorprovided by MGI
    Primary source
    MGI:MGI:96765
    See related
    Ensembl:ENSMUSG00000032193 Vega:OTTMUSG00000063513
    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
    Hlb301
    Orthologs
    Location:
    9 A3; 9 7.87 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (21723576..21749919)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (21528038..21554363)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Neighboring gene predicted gene, 26511 Neighboring gene SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) Neighboring gene KN motif and ankyrin repeat domains 2

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (6)  1 citation
    • Chemically induced (ENU) (2) 
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    glycoprotein binding ISO
    Inferred from Sequence Orthology
    more info
     
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    low-density lipoprotein particle binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    low-density lipoprotein particle binding ISO
    Inferred from Sequence Orthology
    more info
     
    low-density lipoprotein receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    low-density lipoprotein receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    low-density lipoprotein receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    very-low-density lipoprotein particle receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very-low-density lipoprotein particle receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    cellular response to fatty acid IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular response to low-density lipoprotein particle stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    cholesterol homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    cholesterol import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol import ISO
    Inferred from Sequence Orthology
    more info
     
    cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    intestinal cholesterol absorption ISO
    Inferred from Sequence Orthology
    more info
     
    lipid metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    lipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipoprotein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipoprotein metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    low-density lipoprotein particle clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    low-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    low-density lipoprotein particle clearance ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of triglyceride biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor-mediated endocytosis involved in cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of phosphatidylcholine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    PCSK9-LDLR complex ISO
    Inferred from Sequence Orthology
    more info
     
    apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    caveola ISO
    Inferred from Sequence Orthology
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    clathrin-coated pit ISO
    Inferred from Sequence Orthology
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    low-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    receptor complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    recycling endosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    sorting endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    low-density lipoprotein receptor
    Names
    LDL receptor

    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_001252658.1NP_001239587.1  low-density lipoprotein receptor isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC161371, BC053041
      UniProtKB/Swiss-Prot
      P35951
      UniProtKB/TrEMBL
      A0A1L1SRE8
      Related
      ENSMUSP00000149431.1, OTTMUSP00000079960, ENSMUST00000213114.1, OTTMUST00000154710
      Conserved Domains (6) summary
      PLN00126
      Location:669743
      PLN00126; succinate dehydrogenase, cytochrome b subunit family; Provisional
      smart00135
      Location:553595
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:355389
      EGF_CA; Calcium-binding EGF-like domain
      pfam00057
      Location:196232
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:529569
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:319347
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. NM_001252659.1NP_001239588.1  low-density lipoprotein receptor isoform 3 presursor precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC161371, BC053041
      UniProtKB/Swiss-Prot
      P35951
      Conserved Domains (5) summary
      smart00135
      Location:552594
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:354388
      EGF_CA; Calcium-binding EGF-like domain
      pfam00057
      Location:195231
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:528568
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:318346
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. NM_010700.3NP_034830.2  low-density lipoprotein receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_034830.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC161371, BC053041
      Consensus CDS
      CCDS22910.1
      UniProtKB/Swiss-Prot
      P35951
      Related
      ENSMUSP00000034713.7, OTTMUSP00000079959, ENSMUST00000034713.8, OTTMUST00000154707
      Conserved Domains (5) summary
      smart00135
      Location:553595
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:355389
      EGF_CA; Calcium-binding EGF-like domain
      pfam00057
      Location:196232
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:529569
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:319347
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      21723576..21749919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center