Acetyl-coenzyme A transporter 1

Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.^[5]

SLC33A1
Identifiers
Aliases	SLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDs	OMIM: 603690; MGI: 1332247; HomoloGene: 3476; GeneCards: SLC33A1; OMA:SLC33A1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q25.31 Start 155,821,024 bp[1] End 155,854,456 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 E1 Start 63,840,928 bp[2] End 63,872,189 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis body of pancreas islet of Langerhans Epithelium of choroid plexus sperm endothelial cell seminal vesicula stromal cell of endometrium kidney tubule caput epididymis Top expressed in lacrimal gland parotid gland seminal vesicula right kidney Epithelium of choroid plexus submandibular gland islet of Langerhans proximal tubule spermatid spermatocyte More reference expression data BioGPS n/a
Gene ontology Molecular function acetyl-CoA transmembrane transporter activity solute:proton symporter activity Cellular component integral component of membrane Golgi membrane integral component of plasma membrane endoplasmic reticulum membrane membrane endoplasmic reticulum Biological process SMAD protein signal transduction BMP signaling pathway transmembrane transport acetyl-CoA transport transport proton transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9197 11416 Ensembl ENSG00000169359 ENSMUSG00000027822 UniProt O00400 Q99J27 RefSeq (mRNA) NM_001190992 NM_004733 NM_001363883 NM_001272035 NM_015728 NM_001331067 RefSeq (protein) NP_001177921 NP_004724 NP_001350812 NP_001258964 NP_001317996 NP_056543 Location (UCSC) Chr 3: 155.82 – 155.85 Mb Chr 3: 63.84 – 63.87 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III.^[5]

Clinical significance

Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent.^[5]