Acetyl-coenzyme A transporter 1

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]

SLC33A1
Identifiers
AliasesSLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDsOMIM: 603690 MGI: 1332247 HomoloGene: 3476 GeneCards: SLC33A1
Orthologs
SpeciesHumanMouse
Entrez

9197

11416

Ensembl

ENSG00000169359

ENSMUSG00000027822

UniProt

O00400

Q99J27

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: 63.84 – 63.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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

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

  1. GRCh38: Ensembl release 89: ENSG00000169359 - Ensembl, May 2017
  2. 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. "Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1".

Further reading

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


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