SLC33A1
Function
Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein substrates, such as BACE1 (PubMed:20826464, PubMed:24828632). Necessary for O-acetylation of gangliosides (PubMed:9096318).
Involvement in disease
Spastic paraplegia 42, autosomal dominant
SPG42
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
None
The disease is caused by variants affecting the gene represented in this entry.
Huppke-Brendel syndrome
HPBDS
An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SLC33A transporter family.
Tissue Specificity
Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
ACATN, AT1, SLC33A1, Acetyl-coenzyme A transporter 1, AT-1, Acetyl-CoA transporter 1, Solute carrier family 33 member 1