mutLBSgeneDB |
Gene summary for ST8SIA3 |
Gene summary |
Basic gene Info. | Gene symbol | ST8SIA3 |
Gene name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 | |
Synonyms | SIAT8C|ST8SiaIII | |
Cytomap | UCSC genome browser: 18q21.31 | |
Type of gene | protein-coding | |
RefGenes | NM_015879.2, | |
Description | SIAT8-Calpha-2,8-sialyltransferase 8Calpha-2,8-sialyltransferase IIIsia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferasesialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)sialyltransferase St8Sia IIIsialytransferase | |
Modification date | 20141207 | |
dbXrefs | MIM : 609478 | |
HGNC : HGNC | ||
Ensembl : ENSG00000177511 | ||
HPRD : 15343 | ||
Vega : OTTHUMG00000180101 | ||
Protein | UniProt: O43173 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ST8SIA3 | |
BioGPS: 51046 | ||
Pathway | NCI Pathway Interaction Database: ST8SIA3 | |
KEGG: ST8SIA3 | ||
REACTOME: ST8SIA3 | ||
Pathway Commons: ST8SIA3 | ||
Context | iHOP: ST8SIA3 | |
ligand binding site mutation search in PubMed: ST8SIA3 | ||
UCL Cancer Institute: ST8SIA3 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0001574 | ganglioside biosynthetic process | 10766765 | GO:0006486 | protein glycosylation | 10766765 | GO:0006491 | N-glycan processing | 10766765 | GO:0009100 | glycoprotein metabolic process | 10766765 | GO:0009311 | oligosaccharide metabolic process | 10766765 | GO:0097503 | sialylation | 10766765 |
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Ligand binding site mutations for ST8SIA3 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | G320 | G320R | SKCM | 2 | I214 | E216K | SKCM | 2 | N190 | A192T | BLCA | 1 | R298 | R298W | COAD | 1 | I161 | Y159H | COAD | 1 | P246 | P246H | LUSC | 1 | R298 | P296T | LUSC | 1 | F250,T252 | H251Y | SKCM | 1 | S353 | S353F | SKCM | 1 | C189 | R188C | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for ST8SIA3 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | N190 | A192T | -1.3791496 | P246 | P246H | -1.1494759 | I161 | Y159H | -1.1213395 | I214 | E216K | -1.0651429 | C189 | R188C | -0.9833168 | R298 | R298W | -0.89761328 | R298 | P296T | -0.79675939 | G320 | G320R | -0.79062549 | S353 | S353F | -0.38101809 | F250 | H251Y | -0.043586216 | T252 | H251Y | -0.043586216 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for ST8SIA3 from PDB |
PDB ID | PDB title | PDB structure | 5BO8 | Structure of human sialyltransferase ST8SiaIII |
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Differential gene expression and gene-gene network for ST8SIA3 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for ST8SIA3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ST8SIA3 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ST8SIA3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CDP | CDP | 5bo6 | A | C189 N190 G320 | CDP | CDP | 5bo6 | B | C189 N190 G320 | CTP | CTP | 5bo7 | A | C189 N190 G320 | CTP | CTP | 5bo7 | B | C189 N190 G320 | CSF | CYTIDINE-5'-MONOPHOSPHATE-3-FLUORO-N-ACETYL-NEURAMINIC ACID | 5bo9 | A | C189 N190 I214 G320 | CSF | CYTIDINE-5'-MONOPHOSPHATE-3-FLUORO-N-ACETYL-NEURAMINIC ACID | 5bo9 | B | C189 N190 I214 G320 | GAL | BETA-D-GALACTOSE | 5bo9 | A | F250 T252 R298 | GAL | BETA-D-GALACTOSE | 5bo9 | B | F250 T252 R298 | FUC | ALPHA-L-FUCOPYRANOSE | 5bo6 | A | I161 | FU4 | 2,6-ANHYDRO-1-DEOXY-D-GALACTITOL | 5bo7 | A | I161 | FUC | ALPHA-L-FUCOPYRANOSE | 5bo8 | B | I161 | FUC | ALPHA-L-FUCOPYRANOSE | 5bo9 | A | I161 | SIA | N-ACETYLNEURAMINIC ACID | 5bo9 | A | P246 R298 | SIA | N-ACETYLNEURAMINIC ACID | 5bo9 | B | P246 R298 | NGS | N-ACETYL-D-GLUCOSAMINE 6-SULFATE | 5bo9 | A | R298 S353 |
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Conservation information for LBS of ST8SIA3 |
Multiple alignments for O43173 in multiple species |
LBS | AA sequence | # species | Species | C189 | DFVFRCNFAPT | 3 | Homo sapiens, Pan troglodytes, Mus musculus | E352 | TTKWQESHQLP | 3 | Homo sapiens, Pan troglodytes, Mus musculus | F249 | WIPAFFFHTSA | 3 | Homo sapiens, Pan troglodytes, Mus musculus | F250 | IPAFFFHTSAT | 3 | Homo sapiens, Pan troglodytes, Mus musculus | F321 | IHLYGFWPFGF | 3 | Homo sapiens, Pan troglodytes, Mus musculus | G166 | ICAVVGNSGIL | 2 | Homo sapiens, Pan troglodytes | G166 | VCAVVGNSGIL | 1 | Mus musculus | G302 | KRLSTGILMYT | 3 | Homo sapiens, Pan troglodytes, Mus musculus | G320 | EIHLYGFWPFG | 3 | Homo sapiens, Pan troglodytes, Mus musculus | H317 | ICEEIHLYGFW | 3 | Homo sapiens, Pan troglodytes, Mus musculus | H337 | EDLPYHYYDKK | 3 | Homo sapiens, Pan troglodytes, Mus musculus | H354 | KWQESHQLPAE | 3 | Homo sapiens, Pan troglodytes, Mus musculus | I161 | NKHYNICAVVG | 2 | Homo sapiens, Pan troglodytes | I161 | NKRYNVCAVVG | 1 | Mus musculus | I214 | TFNPSILEKYY | 3 | Homo sapiens, Pan troglodytes, Mus musculus | K349 | TKFTTKWQESH | 3 | Homo sapiens, Pan troglodytes, Mus musculus | N167 | CAVVGNSGILT | 3 | Homo sapiens, Pan troglodytes, Mus musculus | N190 | FVFRCNFAPTE | 3 | Homo sapiens, Pan troglodytes, Mus musculus | N211 | NLTTFNPSILE | 3 | Homo sapiens, Pan troglodytes, Mus musculus | P212 | LTTFNPSILEK | 3 | Homo sapiens, Pan troglodytes, Mus musculus | P246 | AILWIPAFFFH | 3 | Homo sapiens, Pan troglodytes, Mus musculus | P323 | LYGFWPFGFDP | 3 | Homo sapiens, Pan troglodytes, Mus musculus | R298 | HLSPKRLSTGI | 3 | Homo sapiens, Pan troglodytes, Mus musculus | S168 | AVVGNSGILTG | 3 | Homo sapiens, Pan troglodytes, Mus musculus | S213 | TTFNPSILEKY | 3 | Homo sapiens, Pan troglodytes, Mus musculus | S300 | SPKRLSTGILM | 3 | Homo sapiens, Pan troglodytes, Mus musculus | S353 | TKWQESHQLPA | 3 | Homo sapiens, Pan troglodytes, Mus musculus | T252 | AFFFHTSATVT | 3 | Homo sapiens, Pan troglodytes, Mus musculus | T301 | PKRLSTGILMY | 3 | Homo sapiens, Pan troglodytes, Mus musculus | W322 | HLYGFWPFGFD | 3 | Homo sapiens, Pan troglodytes, Mus musculus | W350 | KFTTKWQESHQ | 3 | Homo sapiens, Pan troglodytes, Mus musculus | Y131 | LMHYDYSSHKY | 3 | Homo sapiens, Pan troglodytes, Mus musculus | Y336 | REDLPYHYYDK | 3 | Homo sapiens, Pan troglodytes, Mus musculus |
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