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

    Gene ID: 22359, updated on 3-Dec-2024

    Summary

    Official Symbol
    Vldlrprovided by MGI
    Official Full Name
    very low density lipoprotein receptorprovided by MGI
    Primary source
    MGI:MGI:98935
    See related
    Ensembl:ENSMUSG00000024924 AllianceGenome:MGI:98935
    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
    Summary
    Enables reelin receptor activity. Involved in several processes, including nervous system development; positive regulation of dendrite development; and reelin-mediated signaling pathway. Acts upstream of or within positive regulation of protein kinase activity. Located in extracellular space. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Used to study age related macular degeneration 1. Human ortholog(s) of this gene implicated in Alzheimer's disease; cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1; and dementia. Orthologous to human VLDLR (very low density lipoprotein receptor). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart adult (RPKM 21.6), subcutaneous fat pad adult (RPKM 8.9) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Vldlr in Genome Data Viewer
    Location:
    19 C1; 19 21.77 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (27190070..27231631)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (27216480..27254231)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4931403E22 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:26919922-26920128 Neighboring gene predicted gene, 46648 Neighboring gene STARR-seq mESC enhancer starr_45837 Neighboring gene predicted gene 815 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:27195482-27195711 Neighboring gene predicted gene, 35438 Neighboring gene STARR-seq mESC enhancer starr_45839 Neighboring gene STARR-seq mESC enhancer starr_45840 Neighboring gene STARR-seq mESC enhancer starr_45841 Neighboring gene STARR-seq mESC enhancer starr_45842 Neighboring gene predicted gene, 35268 Neighboring gene potassium channel, subfamily V, member 2

    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)
    • Chemically induced (ENU) (2)  1 citation
    • Endonuclease-mediated (4) 
    • Spontaneous (1) 
    • Targeted (2)  1 citation

    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 apolipoprotein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables apolipoprotein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables apolipoprotein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cargo receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables reelin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables reelin receptor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables reelin receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables very-low-density lipoprotein particle binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables very-low-density lipoprotein particle binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables very-low-density lipoprotein particle receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables very-low-density lipoprotein particle receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendrite morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycoprotein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycoprotein transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of dendrite development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor-mediated endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in reelin-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in reelin-mediated signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of synapse assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of synapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventral spinal cord development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle clearance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in very-low-density lipoprotein particle clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of very-low-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    very low-density lipoprotein receptor
    Names
    VLDL receptor
    VLDL-R

    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_001161420.1NP_001154892.1  very low-density lipoprotein receptor isoform b precursor

      See identical proteins and their annotated locations for NP_001154892.1

      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 b), compared to isoform a.
      Source sequence(s)
      AC119982, AK036010, AK076172, AK136838, BU504025, U06670
      Consensus CDS
      CCDS50411.1
      UniProtKB/TrEMBL
      Q3UVX6, Q91YY0
      Related
      ENSMUSP00000126730.2, ENSMUST00000172302.8
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:508547
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:396426
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00057
      Location:237273
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:568608
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:360394
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. NM_001347441.1NP_001334370.1  very low-density lipoprotein receptor isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC119982, AI451093
      Consensus CDS
      CCDS84429.1
      UniProtKB/TrEMBL
      F8WGI9, Q3UVX6
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:467506
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:355385
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00057
      Location:196232
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:527567
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:319353
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. NM_001412816.1NP_001399745.1  very low-density lipoprotein receptor isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC119982
      UniProtKB/TrEMBL
      F8WGI9, Q3UVX6
      Related
      ENSMUSP00000049145.7, ENSMUST00000047645.13
    4. NM_013703.2NP_038731.2  very low-density lipoprotein receptor isoform a precursor

      See identical proteins and their annotated locations for NP_038731.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer variant and encodes the longer isoform (a).
      Source sequence(s)
      AC119982, AK036010, AK076172, AK136838, BU504025, U06670
      Consensus CDS
      CCDS29721.1
      UniProtKB/Swiss-Prot
      P98156, Q64022
      UniProtKB/TrEMBL
      Q3UVX6
      Related
      ENSMUSP00000127329.2, ENSMUST00000167487.8
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:508547
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:396426
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00058
      Location:568608
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam00057
      Location:237273
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam14670
      Location:360394
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      27190070..27231631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161519.1XP_036017412.1  very low-density lipoprotein receptor isoform X6

      Conserved Domains (5) summary
      smart00135
      Location:488530
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:292322
      EGF_CA; Calcium-binding EGF-like domain
      pfam00057
      Location:133169
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:464504
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:256290
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. XM_006526917.2XP_006526980.1  very low-density lipoprotein receptor isoform X1

      See identical proteins and their annotated locations for XP_006526980.1

      UniProtKB/Swiss-Prot
      P98156, Q64022
      UniProtKB/TrEMBL
      Q3UVX6
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:508547
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:396426
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00058
      Location:568608
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam00057
      Location:237273
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam14670
      Location:360394
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. XM_030250866.2XP_030106726.1  very low-density lipoprotein receptor isoform X2

      UniProtKB/TrEMBL
      Q3UVX6, Q91YY0
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:508547
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:396426
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00057
      Location:237273
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:568608
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:360394
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    4. XM_030250868.2XP_030106728.1  very low-density lipoprotein receptor isoform X5

      Conserved Domains (5) summary
      smart00135
      Location:488530
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:292322
      EGF_CA; Calcium-binding EGF-like domain
      pfam00058
      Location:464504
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam00057
      Location:133169
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam14670
      Location:256290
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    5. XM_006526919.4XP_006526982.1  very low-density lipoprotein receptor isoform X3

      UniProtKB/TrEMBL
      Q3UVX6
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:467506
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:355385
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00058
      Location:527567
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam00057
      Location:196232
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam14670
      Location:319353
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    6. XM_030250865.2XP_030106725.1  very low-density lipoprotein receptor isoform X1

      UniProtKB/Swiss-Prot
      P98156, Q64022
      UniProtKB/TrEMBL
      Q3UVX6
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:508547
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:396426
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00058
      Location:568608
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam00057
      Location:237273
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam14670
      Location:360394
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    7. XM_006526918.4XP_006526981.1  very low-density lipoprotein receptor isoform X1

      See identical proteins and their annotated locations for XP_006526981.1

      UniProtKB/Swiss-Prot
      P98156, Q64022
      UniProtKB/TrEMBL
      Q3UVX6
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:508547
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:396426
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00058
      Location:568608
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam00057
      Location:237273
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam14670
      Location:360394
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    8. XM_036161516.1XP_036017409.1  very low-density lipoprotein receptor isoform X2

      UniProtKB/TrEMBL
      Q3UVX6, Q91YY0
      Conserved Domains (7) summary
      smart00192
      Location:71103
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:508547
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:396426
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:3367
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00057
      Location:237273
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:568608
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:360394
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    9. XM_036161518.1XP_036017411.1  very low-density lipoprotein receptor isoform X6

      Conserved Domains (5) summary
      smart00135
      Location:488530
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:292322
      EGF_CA; Calcium-binding EGF-like domain
      pfam00057
      Location:133169
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:464504
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:256290
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RNA

    1. XR_386457.4 RNA Sequence

    2. XR_003952777.2 RNA Sequence

    3. XR_003952778.2 RNA Sequence

    4. XR_004940134.1 RNA Sequence