Version 5.4
Mus musculus Gene: Ldlrap1
Summary
InnateDB Gene IDBG-196506.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ldlrap1
Gene Name low density lipoprotein receptor adaptor protein 1
Synonyms AA691260; Arh; Arh1; ARH2; FHCB1; FHCB2
Species Mus musculus
Ensembl Gene ENSMUSG00000037295
Encoded Proteins
IDBP-196508
low density lipoprotein receptor adaptor protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000157978:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:134744735-134768024
Strand Reverse strand
Band D3
Transcripts
ENSMUST00000037828 ENSMUSP00000036749
ENSMUST00000148479
ENSMUST00000140678
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0001784 phosphotyrosine binding
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0030159 receptor signaling complex scaffold activity
GO:0030276 clathrin binding
GO:0035591 signaling adaptor activity
GO:0035612 AP-2 adaptor complex binding
GO:0035615 clathrin adaptor activity
GO:0050750 low-density lipoprotein particle receptor binding
Biological Process
GO:0006898 receptor-mediated endocytosis
GO:0008203 cholesterol metabolic process
GO:0009967 positive regulation of signal transduction
GO:0031623 receptor internalization
GO:0042632 cholesterol homeostasis
GO:0042982 amyloid precursor protein metabolic process
GO:0043393 regulation of protein binding
GO:0048260 positive regulation of receptor-mediated endocytosis
GO:0090003 regulation of establishment of protein localization to plasma membrane
GO:0090118 receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport
Cellular Component
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005883 neurofilament
GO:0009898 cytoplasmic side of plasma membrane
GO:0009925 basal plasma membrane
GO:0030121 AP-1 adaptor complex
GO:0030122 AP-2 adaptor complex
GO:0030424 axon
GO:0055037 recycling endosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000157978
View Gene Order
ENSBTAG00000001050
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04144
Endocytosis pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_24
TSLP pathway
REACTOME
KEGG
hsa04144
Endocytosis pathway
INOH
PID NCI
Cross-References
SwissProt Q8C142
TrEMBL Q3TEF2
UniProt Splice Variant
Entrez Gene 100017
UniGene Mm.482148
RefSeq NM_145554 XM_006538423
OMIM
CCDS CCDS51327
HPRD
IMGT
MGI ID MGI:2140175
MGI Symbol Ldlrap1
EMBL AK029008 AK148340 AK159800 AK167290 AK169675 AL645531 BC021467 BC066808 BC067411 CH466552
GenPept AAH21467 AAH66808 AAH67411 BAC26238 BAE28493 BAE35380 BAE39396 BAE41296 CAM17037 EDL30001
RNA Seq Atlas 100017

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca