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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SLC35A3
solute carrier family 35 member A3
Chromosome 1 Β· 1p21.2
NCBI Gene: 23443Ensembl: ENSG00000117620.15HGNC: HGNC:11023UniProt: A0A1W2PQL8
32PubMed Papers
21Diseases
0Drugs
51Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
UDP-N-acetylglucosamine transmembrane transportGolgi membraneprotein bindingUDP-galactose transmembrane transporter activityautism spectrum disorder - epilepsy - arthrogryposis syndromeAutism spectrum disorder-epilepsy-arthrogryposis syndromedevelopmental disorder of mental healthdistal arthrogryposis
✦AI Summary

SLC35A3 is a Golgi membrane transporter that mediates UDP-N-acetylglucosamine (UDP-GlcNAc) transport from the cytosol into the Golgi lumen, functioning as an antiporter that exchanges UDP-GlcNAc for UMP 1. The transporter supplies UDP-GlcNAc as substrate for glycosyltransferases generating complex N-glycans and keratan sulfate 23. However, SLC35A3's precise role remains incompletely understood; it may function as part of a multiprotein complex rather than independently 4. Recent evidence suggests SLC35A3 cooperates with the homologous SLC35A2 protein to restore proper glycosylation, and its O-GlcNAcylation by OGT specifically regulates branched N-glycan biosynthesis via interaction with GnT-IV 53. Mutations in SLC35A3 cause congenital disorders of glycosylation (CDG) characterized by skeletal dysplasia, vertebral anomalies, cleft palate, and neurological features including autism, epilepsy, and arthrogryposis 6. Clinically, decreased SLC35A3 expression in colorectal cancer associates with poor prognosis, increased immune infiltration, and reduced survival outcomes, suggesting SLC35A3 serves as an independent prognostic biomarker 7. SLC35A3 also functions in glycolysis-related prognostic models for gastric cancer 8. These findings establish SLC35A3's dual importance in normal glycosylation homeostasis and cancer progression.

Sources cited
1
SLC35A3 transports UDP-GlcNAc from cytosol to Golgi lumen as an antiporter
PMID: 10393322
2
SLC35A3 supplies UDP-GlcNAc for glycosyltransferases generating complex N-glycans and keratan sulfate
PMID: 23766508
3
SLC35A3 interacts with GnT-IV and is modified by O-GlcNAcylation to regulate branched N-glycan biosynthesis
PMID: 34981577
4
SLC35A3's UDP-GlcNAc transporting activity is not fully understood; may function in multiprotein complexes
PMID: 32938718
5
SLC35A3 cooperates with SLC35A2 in balanced fashion to restore glycosylation
PMID: 37552213
6
SLC35A3 mutations cause congenital disorder of glycosylation with skeletal dysplasia and neurological features
PMID: 28777481
7
Low SLC35A3 expression in colorectal cancer associates with poor prognosis and immune infiltration
PMID: 38172565
8
SLC35A3 included in glycolysis-related gene prognostic models for gastric cancer
PMID: 39118022
Disease Associationsβ“˜21
autism spectrum disorder - epilepsy - arthrogryposis syndromeOpen Targets
0.74Strong
Autism spectrum disorder-epilepsy-arthrogryposis syndromeOpen Targets
0.46Moderate
developmental disorder of mental healthOpen Targets
0.37Weak
distal arthrogryposisOpen Targets
0.37Weak
epilepsy syndromeOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.28Weak
arthrogryposis multiplex congenitaOpen Targets
0.17Weak
atrial fibrillationOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.08Suggestive
spondylometaphyseal dysplasia, A4 typeOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.05Suggestive
spondylometaphyseal dysplasia, 'corner fracture' typeOpen Targets
0.05Suggestive
Metaphyseal chondrodysplasia, Schmid typeOpen Targets
0.05Suggestive
Schmid metaphyseal chondrodysplasiaOpen Targets
0.05Suggestive
metatropic dysplasiaOpen Targets
0.04Suggestive
acrocapitofemoral dysplasiaOpen Targets
0.04Suggestive
Achondrogenesis type 2Open Targets
0.04Suggestive
pseudoachondroplasiaOpen Targets
0.04Suggestive
spondylo-megaepiphyseal-metaphyseal dysplasiaOpen Targets
0.04Suggestive
Arthrogryposis, impaired intellectual development, and seizuresUniProt
Pathogenic Variants51
NM_012243.3(SLC35A3):c.586dup (p.Ile196fs)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 196
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 296
NM_012243.3(SLC35A3):c.711dup (p.Gln238fs)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 238
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 198
NM_012243.3(SLC35A3):c.38del (p.Leu13fs)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 13
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 227
NM_012243.3(SLC35A3):c.520del (p.Phe173_Val174insTer)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 173
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 7
NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 271
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 242
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 71
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 172
NM_012243.3(SLC35A3):c.770del (p.Val257fs)Pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 257
NM_012243.3(SLC35A3):c.598del (p.Thr200fs)Likely pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 200
NM_012243.3(SLC35A3):c.899_900delinsA (p.Leu300fs)Likely pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 300
NM_012243.3(SLC35A3):c.893_896del (p.Phe298fs)Likely pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 298
NM_012243.3(SLC35A3):c.351T>G (p.Tyr117Ter)Likely pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 117
NM_012243.3(SLC35A3):c.407T>A (p.Leu136Ter)Likely pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 136
NM_012243.3(SLC35A3):c.876dup (p.Val293fs)Likely pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 293
NM_012243.3(SLC35A3):c.635-1G>ALikely pathogenic
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
SLC35D3Protein interaction96%SLC35D1Protein interaction77%SLC35A5Shared pathway75%SLC35D2Protein interaction67%SLC35B4Protein interaction65%SLC35A4Shared pathway60%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
86%
Lung
43%
Heart
35%
Ovary
34%
Brain
33%
Gene Interaction Network
Click a node to explore
SLC35A3SLC35D3SLC35D1SLC35A5SLC35D2SLC35B4SLC35A4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y2D2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.40–1.11]
RankingsWhere SLC35A3 stands among ~20K protein-coding genes
  • #11,611of 20,598
    Most Researched32
  • #1,317of 5,498
    Most Pathogenic Variants51 Β· top quartile
  • #11,438of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedSLC35A3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The glycosylation defect in solute carrier SLC35A2/SLC35A3 double knockout cells is rescued by SLC35A2-SLC35A3 and SLC35A3-SLC35A2 hybrids.
PMID: 37552213
FEBS Lett Β· 2023
1.00
2
Colorectal cancer with low SLC35A3 is associated with immune infiltrates and poor prognosis.
PMID: 38172565
Sci Rep Β· 2024
0.90
3
Glycolysis-related genes predict prognosis and indicate immune microenvironment features in gastric cancer.
PMID: 39118022
BMC Cancer Β· 2024
0.80
4
O-GlcNAcylation regulates Ξ²1,4-GlcNAc-branched N-glycan biosynthesis via the OGT/SLC35A3/GnT-IV axis.
PMID: 34981577
FASEB J Β· 2022
0.70
5
Biosynthesis of GlcNAc-rich
PMID: 32938718
J Biol Chem Β· 2020
0.60