U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    Ldlrap1 low density lipoprotein receptor adaptor protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 100017, updated on 4-Jan-2025

    Summary

    Official Symbol
    Ldlrap1provided by MGI
    Official Full Name
    low density lipoprotein receptor adaptor protein 1provided by MGI
    Primary source
    MGI:MGI:2140175
    See related
    Ensembl:ENSMUSG00000037295 AllianceGenome:MGI:2140175
    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
    Arh; ARH2; Arh1; FHCB1; FHCB2
    Summary
    Enables amyloid-beta binding activity. Acts upstream of or within cholesterol homeostasis. Located in early endosome and neurofilament. Is expressed in extraembryonic endoderm; nose; and skin. Used to study autosomal recessive hypercholesterolemia. Human ortholog(s) of this gene implicated in autosomal recessive hypercholesterolemia. Orthologous to human LDLRAP1 (low density lipoprotein receptor adaptor protein 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 8.3), lung adult (RPKM 7.8) and 26 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Ldlrap1 in Genome Data Viewer
    Location:
    4 D3; 4 67.09 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (134468865..134495342, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (134741554..134768032, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11681 Neighboring gene mannosidase, alpha, class 1C, member 1 Neighboring gene microRNA 6403 Neighboring gene predicted gene, 42326 Neighboring gene STARR-seq mESC enhancer starr_11682 Neighboring gene STARR-seq mESC enhancer starr_11683 Neighboring gene STARR-positive B cell enhancer ABC_E9086 Neighboring gene STARR-positive B cell enhancer ABC_E10265 Neighboring gene STARR-positive B cell enhancer ABC_E3527 Neighboring gene STARR-seq mESC enhancer starr_11687 Neighboring gene STARR-seq mESC enhancer starr_11688 Neighboring gene macoilin 1 Neighboring gene STARR-positive B cell enhancer ABC_E2718 Neighboring gene STARR-positive B cell enhancer ABC_E4682 Neighboring gene STARR-seq mESC enhancer starr_11693 Neighboring gene Rh blood group, D antigen

    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

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AP-1 adaptor complex binding  
    enables AP-1 adaptor complex binding  
    enables AP-2 adaptor complex binding  
    enables AP-2 adaptor complex binding  
    enables amyloid-beta binding PubMed 
    enables amyloid-beta binding  
    enables clathrin adaptor activity  
    enables clathrin adaptor activity  
    enables clathrin binding PubMed 
    enables clathrin binding  
    enables low-density lipoprotein particle receptor binding  
    enables low-density lipoprotein particle receptor binding  
    enables phosphatidylinositol-4,5-bisphosphate binding  
    enables phosphatidylinositol-4,5-bisphosphate binding  
    enables phosphotyrosine residue binding  
    enables phosphotyrosine residue binding  
    enables protein binding PubMed 
    enables signaling adaptor activity  
    enables signaling receptor binding PubMed 
    enables signaling receptor complex adaptor activity  
    enables signaling receptor complex adaptor activity  
    Process Evidence Code Pubs
    involved_in amyloid precursor protein metabolic process  
    involved_in amyloid precursor protein metabolic process  
    involved_in cellular response to cytokine stimulus  
    involved_in cellular response to cytokine stimulus  
    acts_upstream_of_or_within cholesterol homeostasis PubMed 
    involved_in cholesterol homeostasis  
    involved_in cholesterol metabolic process  
    involved_in low-density lipoprotein particle clearance  
    involved_in low-density lipoprotein particle clearance  
    involved_in positive regulation of low-density lipoprotein particle clearance  
    involved_in positive regulation of low-density lipoprotein particle clearance  
    involved_in positive regulation of receptor-mediated endocytosis  
    involved_in positive regulation of receptor-mediated endocytosis  
    involved_in positive regulation of receptor-mediated endocytosis involved in cholesterol transport  
    involved_in positive regulation of receptor-mediated endocytosis involved in cholesterol transport  
    involved_in positive regulation of vascular associated smooth muscle cell proliferation  
    involved_in positive regulation of vascular associated smooth muscle cell proliferation  
    involved_in receptor internalization  
    involved_in receptor internalization  
    involved_in receptor-mediated endocytosis  
    involved_in receptor-mediated endocytosis involved in cholesterol transport  
    involved_in receptor-mediated endocytosis involved in cholesterol transport  
    involved_in regulation of protein binding  
    involved_in regulation of protein localization to plasma membrane  
    involved_in regulation of protein localization to plasma membrane  
    Component Evidence Code Pubs
    located_in axon  
    located_in basal plasma membrane  
    located_in basal plasma membrane  
    located_in cytoplasm PubMed 
    located_in cytoplasmic side of plasma membrane  
    located_in cytoplasmic side of plasma membrane  
    located_in cytosol  
    located_in cytosol  
    is_active_in early endosome  
    located_in early endosome PubMed 
    located_in early endosome  
    located_in neurofilament PubMed 
    located_in recycling endosome  
    located_in recycling endosome  

    General protein information

    Preferred Names
    low density lipoprotein receptor adapter protein 1
    Names
    LDL receptor adaptor protein
    autosomal recessive hypercholesterolemia protein homolog

    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_145554.2NP_663529.2  low density lipoprotein receptor adapter protein 1

      See identical proteins and their annotated locations for NP_663529.2

      Status: VALIDATED

      Source sequence(s)
      AK148340, AK167290, BY124598, BY435601
      Consensus CDS
      CCDS51327.1
      UniProtKB/Swiss-Prot
      Q3TW86, Q6NWV6, Q8C142, Q8VDQ0
      Related
      ENSMUSP00000036749.7, ENSMUST00000037828.8
      Conserved Domains (1) summary
      cd13159
      Location:43165
      PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      134468865..134495342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538423.5XP_006538486.1  low density lipoprotein receptor adapter protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006538486.1

      UniProtKB/Swiss-Prot
      Q8C142
      Conserved Domains (1) summary
      cd13159
      Location:1121
      PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
    External link. Please review our privacy policy.