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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605747 Ensembl IDEnsembl:ENSG00000157978 HGNC IDHGNC:HGNC:18640 PHARMGKB IDPA128394641 Map Location1p36.11 | |||||
GO terms in LDLRAP1
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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 |
Gene expression in normal tissue: LDLRAP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LDLRAP1
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LDLRAP1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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