SLC35A3
UDP-N-acetylglucosamine transporter
Also known as: S35A3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2D2
- Gene
- SLC35A3
- Ensembl
- ENSG00000117620
- Chromosome
- 1
- Canonical length
- 325 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Canonical amino-acid sequenceUniProt
325 residues, UniProt reviewed canonical sequence.
>Q9Y2D2|SLC35A3
1 MFANLKYVSL GILVFQTTSL VLTMRYSRTL KEEGPRYLSS TAVVVAELLK IMACILLVYK
61 DSKCSLRALN RVLHDEILNK PMETLKLAIP SGIYTLQNNL LYVALSNLDA ATYQVTYQLK
121 ILTTALFSVS MLSKKLGVYQ WLSLVILMTG VAFVQWPSDS QLDSKELSAG SQFVGLMAVL
181 TACFSSGFAG VYFEKILKET KQSVWIRNIQ LGFFGSIFGL MGVYIYDGEL VSKNGFFQGY
241 NRLTWIVVVL QALGGLVIAA VIKYADNILK GFATSLSIIL STLISYFWLQ DFVPTSVFFL
301 GAILVITATF LYGYDPKPAG NPTKALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC35A3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 8
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- rectum: 51 nTPM
- colon: 50 nTPM
- duodenum: 47 nTPM
- small intestine: 39 nTPM
- liver: 35 nTPM
- stomach: 32 nTPM
Single-cell type
- cardiomyocytes: 20 nCPM
- megakaryocytes: 12 nCPM
- adipocytes: 5.2 nCPM
- respiratory deuterosomal cells: 3.1 nCPM
- colonocytes: 3 nCPM
- neuroendocrine cells: 3 nCPM
Immune cell
- plasmacytoid DC: 5 nTPM
- NK-cell: 4.3 nTPM
- basophil: 4.2 nTPM
- T-reg: 2.8 nTPM
- naive CD4 T-cell: 2.6 nTPM
- MAIT T-cell: 2.5 nTPM
Brain region
- choroid plexus: 24 nTPM
- cerebellum: 16 nTPM
- white matter: 15 nTPM
- pons: 13 nTPM
- basal ganglia: 13 nTPM
- thalamus: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC35A3.
Disease | AllUniProt
Conditions SLC35A3 is implicated in, by any mechanism.
- Arthrogryposis, impaired intellectual development, and seizures (AMRS) MIM:615553
Disease | GeneticClinVar
51 pathogenic / likely-pathogenic of 362 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autism spectrum disorder - epilepsy - arthrogryposis syndrome
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.42
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- transmembrane transport
- UDP-N-acetylglucosamine metabolic process
- UDP-N-acetylglucosamine transmembrane transport
Molecular functions
- antiporter activity
- UDP-galactose transmembrane transporter activity
- UDP-N-acetylglucosamine transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC35A3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC35A3 as an antibody target. Whether an autoantibody or antibody against SLC35A3 could matter depends on whether native SLC35A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC35A3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC35A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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