Protein name: ACATN1 Aliases: AT-1 Substrates: acetyl-CoA Transport type: Facilitated transporter Tissue and cellular expression: brain, spinal cord, prostate, placenta, uterus, testis, thymus, trachea Subcellular expression: endoplasmic reticulum Disease: autosomal dominant spastic paraplegia (SPG42) Locus: 3q25.3 Sequence ID: NP_001177921.1, NM_001190992.1 NP_004724.1, NM_004733.3 Gene ID: 9197 Splice variants: N/D


Gene names: SLC33A1, ACATN, AT1
Protein names and data: ACATN_HUMAN, Full=Acetyl-coenzyme A transporter 1;Short=AT-1;Short=Acetyl-CoA transporter 1, Full=Solute carrier family 33 member 1; Length: 549 a.a., Mass: 60909 Da,
fasta formatted sequence

Function: Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Tissue specificity: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas

Database cross-references

UniProt: O00400
NextBio: 34479
OMIM: 603690 612539 614482
Ensembl: ENST00000392845
GeneCard: GC03M155821
TCDB: 2.A.1.25.1
PharmGenUCSF: SLC33A1
Guide to Pharmacology: SLC33A1 (1134)
SLC33 acetylCoA transporter (1134)


Genetic variants

See also Ensembl:ENST00000392845