ST3GAL5
Lactosylceramide alpha-2,3-sialyltransferase
Also known as: SIAT9, SIAT9_HUMAN, SIATGM3S, ST3GalV
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UNP4
- Gene
- ST3GAL5
- Ensembl
- ENSG00000115525
- Chromosome
- 2
- Canonical length
- 418 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
418 residues, UniProt reviewed canonical sequence.
>Q9UNP4|ST3GAL5
1 MRTKAAGCAE RRPLQPRTEA AAAPAGRAMP SEYTYVKLRS DCSRPSLQWY TRAQSKMRRP
61 SLLLKDILKC TLLVFGVWIL YILKLNYTTE ECDMKKMHYV DPDHVKRAQK YAQQVLQKEC
121 RPKFAKTSMA LLFEHRYSVD LLPFVQKAPK DSEAESKYDP PFGFRKFSSK VQTLLELLPE
181 HDLPEHLKAK TCRRCVVIGS GGILHGLELG HTLNQFDVVI RLNSAPVEGY SEHVGNKTTI
241 RMTYPEGAPL SDLEYYSNDL FVAVLFKSVD FNWLQAMVKK ETLPFWVRLF FWKQVAEKIP
301 LQPKHFRILN PVIIKETAFD ILQYSEPQSR FWGRDKNVPT IGVIAVVLAT HLCDEVSLAG
361 FGYDLNQPRT PLHYFDSQCM AAMNFQTMHN VTTETKFLLK LVKEGVVKDL SGGIDREFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ST3GAL5 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
- 1
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 46 nTPM
- spinal cord: 39 nTPM
- basal ganglia: 34 nTPM
- cerebral cortex: 32 nTPM
- amygdala: 30 nTPM
- retina: 29 nTPM
Single-cell type
- pituicytes/fscs: 618 nCPM
- retinal pigment epithelial cells: 558 nCPM
- adrenal cortex cells: 522 nCPM
- urothelial cells: 261 nCPM
- alveolar cells type 2: 234 nCPM
- oligodendrocytes: 208 nCPM
Immune cell
- intermediate monocyte: 3 nTPM
- non-classical monocyte: 2.4 nTPM
- memory B-cell: 1.1 nTPM
- classical monocyte: 0.8 nTPM
- MAIT T-cell: 0.8 nTPM
- naive B-cell: 0.7 nTPM
Brain region
- white matter: 89 nTPM
- basal ganglia: 62 nTPM
- medulla oblongata: 58 nTPM
- hypothalamus: 57 nTPM
- thalamus: 55 nTPM
- pons: 54 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ST3GAL5.
Disease | AllUniProt
Conditions ST3GAL5 is implicated in, by any mechanism.
- Salt and pepper developmental regression syndrome (SPDRS) MIM:609056
Disease | GeneticClinVar
51 pathogenic / likely-pathogenic of 507 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- GM3 synthase deficiency
- Intellectual disability
- ST3GAL5-related disorder
- Inborn genetic diseases
- Gastric cancer
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)
- 0.76
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.05
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
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
Molecular functions
- beta-galactoside (CMP) alpha-2,3-sialyltransferase activity
- sialyltransferase activity
- lactosylceramide alpha-2,3-sialyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ST3GAL5 as an antibody target. Whether an autoantibody or antibody against ST3GAL5 could matter depends on whether native ST3GAL5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ST3GAL5 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 ST3GAL5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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