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FLASH GENE
Symbol SLC33A1 contributors: shn/mct - updated : 25-01-2013
HGNC name solute carrier family 33 (acetyl-CoA transporter), member 1, SPG42
HGNC id 95
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six to ten transmembrane domains
  • one leucine-zipper motif in transmembrane domain 3
    • HOMOLOGY
    interspecies homolog to murine Acatn
    homolog to Drosophila CG9706
    homolog to C.elegans T26C5.3b
    Homologene
    FAMILY
  • solute carrier family 33
  • SLC33A transporter family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • the protein encoded by SLC33A1 is suggested to be an Ac-CoA transporter that is involved in the process of O-acetylation
  • the protein product of SLC33A1, is positioned to carry acetyl-CoA into the lumen of Golgi apparatus, where acetyl-CoA is transferred to the sialyl residues of gangliosides and glycoproteins
  • probably plays a critical role in the outgrowth and maintenance of the axons of the motor neurons
  • essential for cell viability as its downregulation results in widespread cell death and induction of features characteristic of autophagy
  • responsible for the transport of acetyl-CoA into the lumen of the ER, serving as a substrate for acetyltransferases
  • ER membrane transporter that regulates the influx of acetyl-CoA into the ER lumen
  • appears to be essential for cell viability
  • acts downstream of XBP1 to prevent autophagic cell death
  • acetylation status of the ER is regulated by ERN1/XBP1, which acts by controlling the influx of acetyl-CoA through the membrane transporter SLC33A1
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulates the acetylation status of ER-transiting proteins, including the membrane proteins BACE1, low-density lipoprotein receptor and amyloid precursor protein (APP)
  • essential for the transient acetylation of BACE1
  • ERN1/XBP1 controls the induction of autophagy by activating the expression of the ER membrane transporter SLC33A1, which ensures continuous supply of acetyl-CoA into the lumen of the ER
    • cell & other
    REGULATION
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Acatn
    homolog to Drosophila CG9706
    homolog to C.elegans T26C5.3b
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG42 , LCCH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
      somatic mutation   --low loss of function
    haploinsufficient
    constitutional       loss of function
    may lead to very low ceruloplasmin but not total body copper deficiency or toxicity
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Knockdown of Slc33a1 in zebrafish caused a curve-shaped tail and defective axon outgrowth from the spinal cord,
    the wild-type human SLC33A1 was able to rescue the phenotype caused by Slc33a1 knockdown in zebrafish, the mutant SLC33A1 (p.S113R) was not, suggesting that S113R mutation renders SLC33A1 nonfunctional and one that wild-type allele is not sufficient for sustaining the outgrowth and maintenance of long motor axons in human heterozygotes.