SLC33A1
Sign in to saveAlso known as ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
protein-coding gene in the species Homo sapiens
Gene data
SLC33A1- Name
- solute carrier family 33 member 1
- Type
- protein-coding
- Position
- 155,821,024–155,854,563 (−)
- Aliases
- ACATN, AT-1, AT1, CCHLND, HPBDS, SPG42
- Ensembl
- ENSG00000169359
- RefSeq RNA
- NM_001190992.2, NM_001363883.1, NM_004733.4, XM_011513311.4, XM_017007463.2
- RefSeq protein
- NP_001177921.1, NP_001350812.1, NP_004724.1, XP_011511613.1, XP_016862952.1
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. 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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010].
Gene Ontology
Biological process
Molecular function
Pathways
Glycosphingolipid biosynthesis - ganglio series - Homo sapiens (human)DiseaseTransport of small moleculesTransport of vitamins, nucleosides, and related moleculesSLC-mediated transmembrane transportDefective SLC33A1 causes spastic paraplegia 42 (SPG42)SLC transporter disordersDisorders of transmembrane transportersGanglio Sphingolipid Metabolism
via MyGene.info
Gene · Ensembl
solute carrier family 33 member 1
- Symbol
- SLC33A1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:155,821,024-155,854,563
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI