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

Gene ID: 100017, updated on 12-May-2024

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 naris; nasal cavity respiratory epithelium; olfactory epithelium; parietal endoderm; and yolk sac endoderm. 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, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 8.3), lung adult (RPKM 7.8) and 26 other tissues See more
Orthologs
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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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables AP-1 adaptor complex binding ISO
Inferred from Sequence Orthology
more info
 
enables AP-2 adaptor complex binding ISO
Inferred from Sequence Orthology
more info
 
enables amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables amyloid-beta binding ISO
Inferred from Sequence Orthology
more info
 
enables clathrin adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables clathrin binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables low-density lipoprotein particle receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidylinositol-4,5-bisphosphate binding ISO
Inferred from Sequence Orthology
more info
 
enables phosphotyrosine residue binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables signaling receptor complex adaptor activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in amyloid precursor protein metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to cytokine stimulus ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cholesterol homeostasis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endocytosis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in low-density lipoprotein particle clearance ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of low-density lipoprotein particle clearance ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of receptor-mediated endocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of receptor-mediated endocytosis involved in cholesterol transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of vascular associated smooth muscle cell proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in receptor internalization ISO
Inferred from Sequence Orthology
more info
 
involved_in receptor-mediated endocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in receptor-mediated endocytosis involved in cholesterol transport ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of protein binding ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in axon ISO
Inferred from Sequence Orthology
more info
 
located_in basal plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic side of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in neurofilament IDA
Inferred from Direct Assay
more info
PubMed 
located_in recycling endosome ISO
Inferred from Sequence Orthology
more info
 

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)

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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_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