LRATD1
LRAT Domain Containing 1
Gene Information Card
| Symbol | LRATD1 |
|---|---|
| Full Name | LRAT Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617610 |
| HGNC ID | 44298 |
| Aliases | C2orf57, FAM82B |
Description
LRATD1 (LRAT Domain Containing 1) is a protein-coding gene located on chromosome 2p25.1. The encoded protein contains a lecithin retinol acyltransferase (LRAT) domain, which is typically involved in retinoid metabolism. However, the specific biochemical function of LRATD1 remains under investigation. Expression data indicate low to moderate transcript levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Thyroid | 1.8 | Low |
| Adrenal gland | 1.5 | Low |
| Prostate | 1.2 | Low |
| Lung | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.8 | Low expression |
| HeLa | 0.6 | Low expression |
| K562 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function variants documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants documented.
Dominant Negative (DN)
No dominant-negative variants documented.
View complete mutation data：
Protein Summary
The LRATD1 protein (UniProt A6NKD9) contains an LRAT domain, suggesting a possible role in retinoid metabolism or related enzymatic activities. However, its precise molecular function and cellular role have not been experimentally characterized. No structural or functional studies are currently available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRATD1 Knockout HEK293 Cell Line | EDJ-KQ11329 | Human | 151354 | Details Get a Quote |
| LRATD1 Knockout HeLa Cell Line | EDJ-KQ58687 | Human | 151354 | Details Get a Quote |
| LRATD1 Knockout A-549 Cell Line | EDJ-KQ67170 | Human | 151354 | Details Get a Quote |
| LRATD1 Knockout HCT 116 Cell Line | EDJ-KQ75572 | Human | 151354 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
