LDLRAD1
Low Density Lipoprotein Receptor Class A Domain Containing 1
Gene Information Card
| Symbol | LDLRAD1 |
|---|---|
| Full Name | Low Density Lipoprotein Receptor Class A Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 388633 ncbi.nlm.nih.gov/gene/388633 |
| Ensembl ID | ENSG00000162692 |
| UniProt ID | Q5T700 |
| OMIM ID | 616146 |
| HGNC ID | 32431 |
| Aliases | C1orf32, FLJ32065 |
Description
LDLRAD1 encodes a protein containing a low-density lipoprotein receptor class A domain, which is involved in ligand binding and endocytosis. The gene is located on chromosome 1p32.3 and is expressed in various tissues, with highest levels in the brain and testis. Its function is not fully characterized, but it may play a role in lipid metabolism or cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.4 | Moderate expression |
| HeLa | 6.2 | Low expression |
| K562 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | missense | <0.01% | Unknown functional effect |
| c.456G>A (p.Trp152Ter) | nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Trp152Ter likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis | • receptor-mediated endocytosis |
| • low-density lipoprotein particle receptor activity | • integral component of membrane |
Pathways
• Lipoprotein metabolism
• Clathrin-mediated endocytosis
Protein Summary
The LDLRAD1 protein is a 210-amino acid transmembrane protein with a single LDL receptor class A domain. It is predicted to localize to the cell membrane and participate in receptor-mediated endocytosis. Its exact ligands and biological role remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDLRAD1 Knockout HEK293 Cell Line | EDJ-KQ14050 | Human | 388633 | Details Get a Quote |
| LDLRAD1 Knockout HeLa Cell Line | EDJ-KQ60038 | Human | 388633 | Details Get a Quote |
| LDLRAD1 Knockout A-549 Cell Line | EDJ-KQ68502 | Human | 388633 | Details Get a Quote |
| LDLRAD1 Knockout HCT 116 Cell Line | EDJ-KQ76877 | Human | 388633 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
