Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ldlrap1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Ldlrap1
  • is located in the following cellular components:
    • cytoplasm ^[2]
    • early endosome ^[1]
    • neurofilament ^[2]
• The gene product of Ldlrap1 has been shown to bind to the gene products of Aplp1, Gabarapl1, Ldlr, Lrp1. ^{[1, 2]} Researchers have inferred, based on physical interactions, that the gene product of Ldlrap1
  • performs the following molecular functions:
    • beta-amyloid binding ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ldlrap1
  • participates in the following biological processes:
    • cholesterol homeostasis ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Ldlrap1:
  • participates in the following biological processes:
    • amyloid precursor protein metabolic process
    • cholesterol homeostasis
    • positive regulation of receptor-mediated endocytosis
    • positive regulation of signal transduction
    • receptor internalization
    • receptor-mediated endocytosis
    • receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport
    • regulation of establishment of protein localization to plasma membrane
    • regulation of protein binding
  • performs the following molecular functions:
    • AP-2 adaptor complex binding
    • beta-amyloid binding
    • clathrin adaptor activity
    • clathrin binding
    • low-density lipoprotein particle receptor binding
    • phosphatidylinositol-4,5-bisphosphate binding
    • phosphotyrosine binding
    • receptor binding
    • receptor signaling complex scaffold activity
    • signaling adaptor activity
  • is located in the following cellular components:
    • axon
    • basal plasma membrane
    • cytosol
    • early endosome
    • internal side of plasma membrane
    • recycling endosome

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ldlrap1 indicates that it:
  • participates in the following biological processes:
    • cholesterol metabolic process
    • endocytosis
    • lipid metabolic process
    • steroid metabolic process

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References

1. Jones C et al. (2003) Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem, 278:29024-30. (PubMed:12746448)
2. Mameza MG et al. (2007) Characterization of the adaptor protein ARH expression in the brain and ARH molecular interactions. J Neurochem, 103:927-41. (PubMed:17727637)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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