Acetyl-coenzyme A transporter 1

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SLC33A1
Identifiers
AliasesSLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDsOMIM: 603690 MGI: 1332247 HomoloGene: 3476 GeneCards: SLC33A1
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for SLC33A1
Genomic location for SLC33A1
Band3q25.31Start155,821,024 bp[1]
End155,854,456 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 3: 63.93 – 63.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Function[edit]

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[edit]

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]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169359 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027822 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1".

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.