SLC44A1

Chr 9q31.1-q31.2

solute carrier family 44 member 1

Aliases:: CTL1, CHTL1, CD92
MANE:: ENST00000374720.8

OMIM: 606105 ↗NCBI: 23446 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC44A1 · Q8WWI5

v62025-08-01

Predicted Aligned Error matrix for SLC44A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.4/ 100

Confident

657 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)48%
Low(50–70)7%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
0.64
benign chondrogenic neoplasm
0.29
hyperaldosteronism
0.27
adrenal gland hyperfunction
0.27
neurodevelopmental disorder
0.27
metabolic disease
0.21
tinea unguium
0.21
placental abruption
0.21
puerperal infection
0.21
osteoarthritis, knee
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Choline transporter-like protein 1

Choline/H+ antiporter (PubMed:19357133, PubMed:23651124, PubMed:31855247, PubMed:33789160). Also acts as a high-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for the CDP-Etn pathway, redistribute intracellular Etn and balance the CDP-Cho and CDP-Etn arms of the Kennedy pathway (PubMed:33789160). Involved in membrane synthesis and myelin production (PubMed:31855247)