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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Endocrine placenta       highly Nervous brain       highly Respiratory lung       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular       highly

cell lineage

cell lines

fluid/secretion

at STAGE

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

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION

required for the formation of O-acetylated gangliosides

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	small molecule transport
	acetyl CoA transporter

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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.