SLC44A3
Solute Carrier Family 44 Member 3
Gene Information Card
| Symbol | SLC44A3 |
|---|---|
| Full Name | Solute Carrier Family 44 Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 126969 ncbi.nlm.nih.gov/gene/126969 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q8N4M1 |
| OMIM ID | 614422 |
| HGNC ID | 20698 |
| Aliases | CTL3, CTL-3, CD92L2 |
Description
SLC44A3 (Solute Carrier Family 44 Member 3) is a protein-coding gene that encodes a choline transporter-like protein. It is involved in choline transport across cell membranes, which is essential for phospholipid synthesis and cell signaling. The gene is located on chromosome 1p22.3 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.4 | Moderate expression |
| HEK293 | 8.9 | Moderate expression |
| A549 | 7.2 | Low expression |
| K562 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • choline transmembrane transporter activity (GO:0015238) | • choline transport (GO:0015871) |
| • integral component of membrane (GO:0016021) |
Pathways
• Choline transport (Reactome: R-HSA-429593)
Protein Summary
The SLC44A3 protein is a multi-pass membrane protein that functions as a choline transporter. It is predicted to have 10 transmembrane domains and is localized to the plasma membrane. The protein is involved in the uptake of choline, a precursor for acetylcholine and phosphatidylcholine synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC44A3 Knockout HEK293 Cell Line | EDJ-KQ9005 | Human | 126969 | Details Get a Quote |
| SLC44A3 Knockout A-549 Cell Line | EDJ-KQ35445 | Human | 126969 | Details Get a Quote |
| SLC44A3 Knockout HCT 116 Cell Line | EDJ-KQ35446 | Human | 126969 | Details Get a Quote |
| SLC44A3 Knockout HeLa Cell Line | EDJ-KQ58192 | Human | 126969 | Details Get a Quote |
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