LDLRAP1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| low density lipoprotein receptor adaptor protein 1 | MIM:605747 | Ensembl:ENSG00000157978 | HGNC:HGNC:18640 | PA128394641 | 1p36.11 |
GO terms in LDLRAP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005769 | early endosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | ISS | GO:0005883 | neurofilament |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0009898 | cytoplasmic side of plasma membrane |
| CC | IDA | GO:0009925 | basal plasma membrane |
| CC | IDA | GO:0030121 | AP-1 adaptor complex |
| CC | IDA | GO:0030122 | AP-2 adaptor complex |
| CC | ISS | GO:0030424 | axon |
| CC | TAS | GO:0030665 | clathrin-coated vesicle membrane |
| CC | IDA | GO:0055037 | recycling endosome |
| BP | IDA | GO:0006898 | receptor-mediated endocytosis |
| BP | NAS | GO:0008203 | cholesterol metabolic process |
| BP | IEA | GO:0009967 | positive regulation of signal transduction |
| BP | NAS | GO:0030301 | cholesterol transport |
| BP | IMP | GO:0031623 | receptor internalization |
| BP | IMP | GO:0034383 | low-density lipoprotein particle clearance |
| BP | IMP | GO:0042632 | cholesterol homeostasis |
| BP | IMP | GO:0042982 | amyloid precursor protein metabolic process |
| BP | IMP | GO:0043393 | regulation of protein binding |
| BP | IMP | GO:0048260 | positive regulation of receptor-mediated endocytosis |
| BP | TAS | GO:0061024 | membrane organization |
| BP | IMP | GO:0090118 | receptor-mediated endocytosis involved in cholesterol transport |
| BP | IC | GO:0090205 | positive regulation of cholesterol metabolic process |
| BP | IMP | GO:1903076 | regulation of protein localization to plasma membrane |
| BP | IMP | GO:1905602 | positive regulation of receptor-mediated endocytosis involved in cholesterol transport |
| MF | IPI | GO:0001540 | amyloid-beta binding |
| MF | IDA | GO:0001784 | phosphotyrosine residue binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding |
| MF | IMP | GO:0030159 | receptor signaling complex scaffold activity |
| MF | IDA | GO:0030276 | clathrin binding |
| MF | IDA | GO:0035591 | signaling adaptor activity |
| MF | IDA | GO:0035612 | AP-2 adaptor complex binding |
| MF | IDA | GO:0035615 | clathrin adaptor activity |
| MF | IPI | GO:0050750 | low-density lipoprotein particle receptor binding |
Gene expression in normal tissue: LDLRAP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LDLRAP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04979 | Cholesterol metabolism - Homo sapiens (human) |
| reactome | R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| reactome | R-HSA-8856828 | Clathrin-mediated endocytosis |
| reactome | R-HSA-8964026 | Chylomicron clearance |
| reactome | R-HSA-8964038 | LDL clearance |
| reactome | R-HSA-8964043 | Plasma lipoprotein clearance |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LDLRAP1
CLASSFICATION
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