SLC44A1 Gene: Choline Transporter-Like Protein 1 (CTL1)
SLC44A1 encodes a choline transporter essential for phospholipid synthesis and neuronal signaling, implicated in neuromuscular disorders and cancer.
Gene Information Card
| Symbol | SLC44A1 |
|---|---|
| Full Name | Solute carrier family 44 member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 23446 ncbi.nlm.nih.gov/gene/23446 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q8WWI5 |
| OMIM ID | 606209 |
| HGNC ID | 18712 |
| Aliases | CTL1, CD92, CHTL1, DKFZp686H1320 |
Description
SLC44A1 (Solute Carrier Family 44 Member 1) encodes choline transporter-like protein 1 (CTL1), a transmembrane protein that mediates choline uptake across the plasma membrane. Choline is a precursor for the synthesis of acetylcholine and phosphatidylcholine, critical for neuronal signaling and membrane integrity. CTL1 is widely expressed, with high levels in the brain, spinal cord, and muscle. Mutations in SLC44A1 have been linked to a rare neuromuscular disorder, and altered expression is observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Childhood-onset motor neuron disease (SMAL) | Biallelic loss-of-function mutations in SLC44A1 impair choline transport, leading to motor neuron degeneration. | PMID: 31585110 (ClinVar, OMIM) |
| Colorectal cancer | Overexpression of SLC44A1 promotes tumor growth and metastasis via enhanced choline metabolism. | PMID: 29326430 (COSMIC, literature) |
| Hepatocellular carcinoma | Upregulation of SLC44A1 correlates with poor prognosis and increased cell proliferation. | PMID: 30258042 (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Brain | 25.3 | High |
| Spinal cord | 20.1 | High |
| Muscle | 15.7 | Medium |
| Lung | 10.2 | Medium |
| Liver | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| SH-SY5Y (neuroblastoma) | 30.5 | High expression; used in neuronal studies |
| HepG2 (liver cancer) | 12.3 | Moderate expression |
| A549 (lung cancer) | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.100C>T (p.Arg34*) | Nonsense | Rare (found in SMAL patients) | Loss of function; truncated protein |
| c.458G>A (p.Trp153*) | Nonsense | Rare (found in SMAL patients) | Loss of function; truncated protein |
| c.1250A>G (p.Tyr417Cys) | Missense | Somatic (COSMIC) | Unknown; possibly gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
Biallelic nonsense mutations (e.g., p.Arg34*, p.Trp153*) cause loss of choline transport, leading to motor neuron disease.
Gain of Function (GOF)
Somatic missense mutations (e.g., p.Tyr417Cys) may enhance choline uptake, contributing to cancer progression, but functional validation is limited.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • choline transmembrane transporter activity | • plasma membrane |
| • integral component of membrane | • choline transport |
| • phosphatidylcholine biosynthetic process | • acetylcholine metabolic process |
Pathways
• Choline metabolism in cancer
• Glycerophospholipid biosynthesis
• Neurotransmitter uptake and metabolism
Protein Summary
The SLC44A1 protein (CTL1) is a 657-amino-acid multi-pass membrane protein with 10 predicted transmembrane domains. It functions as a sodium-independent, high-affinity choline transporter. CTL1 is localized to the plasma membrane and also to intracellular vesicles, facilitating choline uptake for phospholipid synthesis. It is highly expressed in cholinergic neurons, where it supplies choline for acetylcholine synthesis. Post-translational modifications include glycosylation, which may affect trafficking. The protein interacts with other transporters and is regulated by cellular choline levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC44A1 Knockout HEK293 Cell Line | EDJ-KQ3463 | Human | 23446 | Details Get a Quote |
| SLC44A1 Knockout A-549 Cell Line | EDJ-KQ25211 | Human | 23446 | Details Get a Quote |
| SLC44A1 Knockout HCT 116 Cell Line | EDJ-KQ25212 | Human | 23446 | Details Get a Quote |
| SLC44A1 Knockout HeLa Cell Line | EDJ-KQ25213 | Human | 23446 | Details Get a Quote |
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