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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC33A1
solute carrier family 33 member 1
Chromosome 3 Β· 3q25.31
NCBI Gene: 9197Ensembl: ENSG00000169359.16HGNC: HGNC:95UniProt: A0A2R8Y5I5
64PubMed Papers
22Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingacetyl-CoA transmembrane transporter activityprotein homodimerization activityacetyl-CoA transmembrane transportHuppke-Brendel syndromeAutosomal dominant spastic paraplegia type 42hereditary spastic paraplegia 42Spastic paraplegia
✦AI Summary

SLC33A1 (solute carrier family 33 member 1) functions as an acetyl-CoA transporter that mediates active transport of acetyl-CoA across the endoplasmic reticulum (ER) membrane into the ER lumen 1. This transported acetyl-CoA serves as substrate for ER-based acetyltransferases that modify various molecules, including sialic acid residues of gangliosides and lysine residues of membrane proteins 1. Recent findings reveal SLC33A1 also functions as the major ER oxidized glutathione (GSSG) exporter, maintaining ER redox homeostasis by preventing GSSG accumulation and ensuring proper protein disulfide formation 2. The protein is ubiquitously expressed and phylogenetically conserved, suggesting fundamental importance 1. Disease associations include spastic paraplegia 42 (SPG42), where mutations like p.Ser113Arg act in a dominant-negative manner and dysregulate BMP signaling 3. SLC33A1 shows context-dependent roles in cancer: it represents a specific dependency in KEAP1-mutant lung adenocarcinomas 4, while low expression correlates with poor prognosis in ovarian cancer 5. The gene is also implicated in hepatocellular carcinoma as a potential therapeutic target 6. Loss of SLC33A1 function leads to ER stress and increased dependency on ER-associated degradation pathways 2.

Sources cited
1
SLC33A1 is an acetyl-CoA transporter in ER membrane that transports acetyl-CoA to ER lumen for acetyltransferase substrates
PMID: 23506891
2
SLC33A1 functions as major ER GSSG exporter maintaining redox homeostasis
PMID: 41676593
3
SPG42-associated p.Ser113Arg mutation acts dominant-negatively and dysregulates BMP signaling
PMID: 25402622
4
SLC33A1 represents specific dependency in KEAP1-mutant lung adenocarcinomas
PMID: 34414377
5
Low SLC33A1 expression correlates with poor prognosis in ovarian cancer
PMID: 26886260
6
SLC33A1 identified as potential therapeutic target in hepatocellular carcinoma
PMID: 38233978
Disease Associationsβ“˜22
Huppke-Brendel syndromeOpen Targets
0.74Strong
Autosomal dominant spastic paraplegia type 42Open Targets
0.67Moderate
hereditary spastic paraplegia 42Open Targets
0.57Moderate
Spastic paraplegiaOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
hereditary spastic paraplegiaOpen Targets
0.41Moderate
mathematical abilityOpen Targets
0.38Weak
hemochromatosisOpen Targets
0.37Weak
cataractOpen Targets
0.37Weak
partial epilepsyOpen Targets
0.29Weak
colorectal carcinomaOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.28Weak
Global developmental delayOpen Targets
0.26Weak
Failure to thriveOpen Targets
0.26Weak
hypothyroidismOpen Targets
0.26Weak
smoking initiationOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
autosomal dominant complex spastic paraplegiaOpen Targets
0.15Weak
neoplasmOpen Targets
0.11Weak
spondyloarthropathyOpen Targets
0.10Weak
Huppke-Brendel syndromeUniProt
Spastic paraplegia 42, autosomal dominantUniProt
Pathogenic Variants10
NM_004733.4(SLC33A1):c.992del (p.Thr331fs)Pathogenic
Spastic paraplegia
β˜…β˜†β˜†β˜†2024β†’ Residue 331
NM_004733.4(SLC33A1):c.1131C>G (p.Tyr377Ter)Pathogenic
Spastic paraplegia|Huppke-Brendel syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 377
NM_004733.4(SLC33A1):c.542_543del (p.Val181fs)Pathogenic
Huppke-Brendel syndrome
β˜†β˜†β˜†β˜†2024β†’ Residue 181
NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)Pathogenic
Hereditary spastic paraplegia 42
β˜†β˜†β˜†β˜†2015β†’ Residue 113
NM_004733.4(SLC33A1):c.1098C>G (p.Tyr366Ter)Pathogenic
Huppke-Brendel syndrome
β˜†β˜†β˜†β˜†2012β†’ Residue 366
NM_004733.4(SLC33A1):c.1267-1G>APathogenic
Huppke-Brendel syndrome
β˜†β˜†β˜†β˜†2012
NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro)Pathogenic
Huppke-Brendel syndrome|not provided
β˜†β˜†β˜†β˜†2012β†’ Residue 110
NM_004733.4(SLC33A1):c.1474_1482+9delPathogenic
Huppke-Brendel syndrome
β˜†β˜†β˜†β˜†2012
NM_004733.4(SLC33A1):c.614dup (p.Leu205fs)Pathogenic
Huppke-Brendel syndrome
β˜†β˜†β˜†β˜†2012β†’ Residue 205
NM_004733.4(SLC33A1):c.963+1G>ALikely pathogenic
Failure to thrive;Global developmental delay;Hypothyroidism
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
B4GALNT1Protein interaction94%ST8SIA1Protein interaction94%PPCSProtein interaction71%
Tissue Expression6 tissues
Liver
100%
Brain
63%
Ovary
48%
Lung
44%
Heart
31%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
SLC33A1B4GALNT1ST8SIA1PPCS
PROTEIN STRUCTURE
Preparing viewer…
PDB9M0S Β· 3.50 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.56Moderately Constrained
pLIβ“˜
0.92Intolerant
Observed/Expected LoF0.32 [0.19–0.56]
RankingsWhere SLC33A1 stands among ~20K protein-coding genes
  • #7,316of 20,598
    Most Researched64
  • #2,864of 5,498
    Most Pathogenic Variants10
  • #3,582of 17,882
    Most Constrained (LOEUF)0.56 Β· top quartile
Genes detectedSLC33A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1.
PMID: 34414377
Nat Cancer Β· 2020
1.00
2
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
PMID: 25402622
Hum Mutat Β· 2015
0.90
3
Overexpression of ATase1 and ATase2 disrupts the secretome and causes a progeria phenotype.
PMID: 40930841
Life Sci Alliance Β· 2025
0.80
4
The acetyl-CoA transporter family SLC33.
PMID: 23506891
Mol Aspects Med Β· 2013
0.70
5
The acetyl-CoA transporter family SLC33.
PMID: 12739170
Pflugers Arch Β· 2004
0.60