SLC44A5: Solute Carrier Family 44 Member 5
Choline Transporter-Like Protein 5 (CTL5) – Gene Overview
Gene Information Card
| Symbol | SLC44A5 |
|---|---|
| Full Name | Solute Carrier Family 44 Member 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 204962 ncbi.nlm.nih.gov/gene/204962 |
| Ensembl ID | ENSG00000137968 |
| UniProt ID | Q8NCS7 |
| OMIM ID | 617408 |
| HGNC ID | 28759 |
| Aliases | CTL5, FLJ20254 |
Description
SLC44A5 (Solute Carrier Family 44 Member 5) encodes a choline transporter-like protein (CTL5) that mediates choline uptake across the plasma membrane. Choline is essential for phospholipid synthesis, acetylcholine production, and methyl group metabolism. The gene is located on chromosome 1p31.1 and is expressed in various tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hearing loss, autosomal recessive 102 | Deficient choline transport in inner ear cells leads to impaired cochlear function. | OMIM #617408; ClinVar pathogenic variants in SLC44A5 associated with nonsyndromic hearing loss. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 3.1 | Low |
| Kidney | 2.8 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.4 | High expression |
| HEK293 (embryonic kidney) | 5.6 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | <0.01% | Loss of function; associated with hearing loss |
| c.1462G>A (p.Gly488Arg) | Missense | <0.01% | Likely damaging; reduced choline transport |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants in SLC44A5 lead to truncated or absent protein, impairing choline transport and causing autosomal recessive hearing loss.
Gain of Function (GOF)
No gain-of-function mutations reported for SLC44A5.
Dominant Negative (DN)
No dominant-negative mutations reported for SLC44A5.
View complete mutation data：
Gene Ontology (GO)
| • choline transmembrane transporter activity (GO:0015220) | • choline transport (GO:0015871) |
| • integral component of membrane (GO:0016021) |
Pathways
• Choline transport (Reactome: R-HSA-429593)
• Phospholipid metabolism (Reactome: R-HSA-1483206)
Protein Summary
SLC44A5 encodes a 10-transmembrane domain protein (CTL5) that functions as a sodium-independent, pH-dependent choline transporter. It localizes to the plasma membrane and is critical for maintaining cellular choline homeostasis. The protein is highly expressed in the brain and testis, and mutations cause nonsyndromic hearing loss due to impaired choline uptake in cochlear hair cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC44A5 Knockout HEK293 Cell Line | EDJ-KQ6016 | Human | 204962 | Details Get a Quote |
| SLC44A5 Knockout HCT 116 Cell Line | EDJ-KQ29628 | Human | 204962 | Details Get a Quote |
| SLC44A5 Knockout HeLa Cell Line | EDJ-KQ29629 | Human | 204962 | Details Get a Quote |
| SLC44A5 Knockout A-549 Cell Line | EDJ-KQ67532 | Human | 204962 | Details Get a Quote |
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