LRPAP1
Summary: This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| LDL receptor related protein associated protein 1 | MIM:104225 | Ensembl:ENSG00000163956 | HGNC:HGNC:6701 | PA30458 | 4p16.3 |
GO terms in LRPAP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0001540 | amyloid-beta binding |
| MF | TAS | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008201 | heparin binding |
| MF | IEA | GO:0035473 | lipase binding |
| MF | IDA | GO:0048019 | receptor antagonist activity |
| MF | TAS | GO:0048019 | receptor antagonist activity |
| MF | IDA | GO:0050750 | low-density lipoprotein particle receptor binding |
| MF | TAS | GO:0050750 | low-density lipoprotein particle receptor binding |
| MF | IPI | GO:0070326 | very-low-density lipoprotein particle receptor binding |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005768 | endosome |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0005796 | Golgi lumen |
| CC | IDA | GO:0005801 | cis-Golgi network |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0009986 | cell surface |
| CC | IEA | GO:0031904 | endosome lumen |
| CC | IDA | GO:0048237 | rough endoplasmic reticulum lumen |
| BP | IGI | GO:0002091 | negative regulation of receptor internalization |
| BP | IDA | GO:0010916 | negative regulation of very-low-density lipoprotein particle clearance |
| BP | IDA | GO:0032091 | negative regulation of protein binding |
| BP | IMP | GO:0045056 | transcytosis |
| BP | IDA | GO:0048259 | regulation of receptor-mediated endocytosis |
| BP | IGI | GO:0060548 | negative regulation of cell death |
| BP | TAS | GO:1900116 | extracellular negative regulation of signal transduction |
| BP | IGI | GO:1900222 | negative regulation of amyloid-beta clearance |
| BP | TAS | GO:1900223 | positive regulation of amyloid-beta clearance |
Gene expression in normal tissue: LRPAP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LRPAP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | integrinpathway | integrin signaling pathway |
| kegg | hsa04979 | Cholesterol metabolism - Homo sapiens (human) |
| pid | hedgehog_2pathway | Signaling events mediated by the Hedgehog family |
| pid | lis1pathway | Lissencephaly gene (LIS1) in neuronal migration and development |
| pid | reelinpathway | Reelin signaling pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LRPAP1
CLASSFICATION
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