Homo sapiens Gene: SLC33A1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-62363.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SLC33A1 | ||||||||||||||||||
Gene Name | solute carrier family 33 (acetyl-CoA transporter), member 1 | ||||||||||||||||||
Synonyms | ACATN; AT-1; AT1; CCHLND; SPG42 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000169359 | ||||||||||||||||||
Encoded Proteins |
solute carrier family 33 (acetyl-CoA transporter), member 1
solute carrier family 33 (acetyl-CoA transporter), member 1
solute carrier family 33 (acetyl-CoA transporter), member 1
solute carrier family 33 (acetyl-CoA transporter), member 1
solute carrier family 33 (acetyl-CoA transporter), member 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 3:155821024-155854429 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q25.31 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Transport of vitamins, nucleosides, and related molecules pathway
Transmembrane transport of small molecules pathway
SLC-mediated transmembrane transport pathway
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KEGG |
Glycosphingolipid biosynthesis pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.478031 Hs.596803 Hs.611929 Hs.623064 | ||||||||||||||||||
RefSeq | NM_001190992 NM_004733 XM_006713822 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS3173 | ||||||||||||||||||
HPRD | 04734 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||