SLC44A4: Solute Carrier Family 44 Member 4
Choline Transporter-Like Protein 4 (CTL4) – Gene Overview and Biomedical Significance
Gene Information Card
| Symbol | SLC44A4 |
|---|---|
| Full Name | Solute carrier family 44 member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 80736 ncbi.nlm.nih.gov/gene/80736 |
| Ensembl ID | ENSG00000124614 |
| UniProt ID | Q53GD3 |
| OMIM ID | 606107 |
| HGNC ID | 10954 |
| Aliases | CTL4, CTL-4, CHTL4, solute carrier family 44 (choline transporter), member 4 |
Description
SLC44A4 (solute carrier family 44 member 4) encodes a choline transporter-like protein (CTL4) that mediates the transport of choline and other organic cations across the plasma membrane. The gene is located on chromosome 6p21.32 within the major histocompatibility complex (MHC) class III region. SLC44A4 is widely expressed in epithelial tissues, including the gastrointestinal tract, and is involved in choline homeostasis. Alterations in SLC44A4 expression have been associated with cancer and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of SLC44A4 in tumor tissues; potential role in choline metabolism and tumor progression | PubMed (PMID: 25944712) |
| Gastric cancer | Upregulation of SLC44A4 correlates with poor prognosis; may promote cell proliferation and migration | PubMed (PMID: 29351298) |
| Inflammatory bowel disease | Differential expression in intestinal epithelium; possible involvement in choline transport and mucosal immunity | PubMed (PMID: 25687263) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Colon | 10.8 | High |
| Stomach | 9.2 | Medium |
| Kidney | 7.1 | Medium |
| Liver | 4.3 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 14.2 | High expression; used as model for intestinal transport |
| HCT116 (colorectal carcinoma) | 11.5 | High expression |
| MKN45 (gastric carcinoma) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% (gnomAD) | Unknown; predicted benign by SIFT |
| c.1286G>A (p.Arg429Gln) | Missense | <0.01% (gnomAD) | Unknown; predicted tolerated |
| c.1543_1544insA (p.Thr515AsnfsTer26) | Frameshift | <0.01% (gnomAD) | Likely loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift variant p.Thr515AsnfsTer26 likely results in a truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC44A4.
Dominant Negative (DN)
No dominant-negative mutations reported in SLC44A4.
View complete mutation data：
Gene Ontology (GO)
| • choline transmembrane transporter activity (GO:0015220) | • choline transport (GO:0015871) |
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
Pathways
• Choline transport (Reactome: R-HSA-429593)
• Transport of organic cations (Reactome: R-HSA-549127)
Protein Summary
SLC44A4 encodes a 657-amino acid multi-pass transmembrane protein (UniProt Q53GD3) belonging to the SLC44 family of choline transporter-like proteins. The protein localizes to the plasma membrane and mediates sodium-independent, pH-sensitive choline uptake. It is highly expressed in the intestinal epithelium and plays a role in choline absorption and homeostasis. Structural predictions indicate 10 transmembrane domains. Post-translational modifications include N-glycosylation at Asn-148 and Asn-171.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC44A4 Knockout HEK293 Cell Line | EDJ-KQ9554 | Human | 80736 | Details Get a Quote |
| SLC44A4 Knockout HeLa Cell Line | EDJ-KQ57339 | Human | 80736 | Details Get a Quote |
| SLC44A4 Knockout A-549 Cell Line | EDJ-KQ65844 | Human | 80736 | Details Get a Quote |
| SLC44A4 Knockout HCT 116 Cell Line | EDJ-KQ74269 | Human | 80736 | Details Get a Quote |
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