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
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 3476
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/9197
- genomic start
- 155538813
- chromosome
- human chromosome 3
- genomic end
- 155854456
- cytogenetic location
- 3q25.31
via Wikidata · CC0