• Gene id: 51046

Gene Summary

• Gene Symbol: ST8SIA3   Gene   UCSC   Ensembl
• Aliases: SIAT8C, ST8SiaIII
• Gene name: ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3
• Alternate names: sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase, SIAT8-C, ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 3, alpha-2,8-sialyltransferase 8C, alpha-2,8-sialyltransferase III, sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sial,
• Gene location: 18q21.31 (57352556: 57368930)     Exons: 4     NC_000018.10
• Gene summary(Entrez): ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]
• OMIM: 606381

Protein Summary

• Protein general information: O43173  
  • Name: Sia alpha 2,3 Gal beta 1,4 GlcNAc R:alpha 2,8 sialyltransferase (EC 2.4.99. ) (Alpha 2,8 sialyltransferase 8C) (Alpha 2,8 sialyltransferase III) (ST8 alpha N acetyl neuraminide alpha 2,8 sialyltransferase 3) (Sialyltransferase 8C) (SIAT8 C) (Sialyltransfe
  • Length: 380  
  • Mass: 43970
  • Tissue specificity: Expressed in fetal and adult brain and fetal liver. {ECO
• Sequence:

  MRNCKMARVASVLGLVMLSVALLILSLISYVSLKKENIFTTPKYASPGAPRMYMFHAGFRSQFALKFLDPSFVPI
  TNSLTQELQEKPSKWKFNRTAFLHQRQEILQHVDVIKNFSLTKNSVRIGQLMHYDYSSHKYVFSISNNFRSLLPD
  VSPIMNKHYNICAVVGNSGILTGSQCGQEIDKSDFVFRCNFAPTEAFQRDVGRKTNLTTFNPSILEKYYNNLLTI
  QDRNNFFLSLKKLDGAILWIPAFFFHTSATVTRTLVDFFVEHRGQLKVQLAWPGNIMQHVNRYWKNKHLSPKRLS
  TGILMYTLASAICEEIHLYGFWPFGFDPNTREDLPYHYYDKKGTKFTTKWQESHQLPAEFQLLYRMHGEGLTKLT
  LSHCA

• Structural information:
  • Interpro: IPR001675  IPR038578  IPR012163  
  • PDB: 5BO6 5BO7 5BO8 5BO9 5CXY
  • PDBsum: 5BO6 5BO7 5BO8 5BO9 5CXY
  • DIP: 61706
  • STRING: ENSP00000320431
• Other Databases: GeneCards:  ST8SIA3  Malacards:  ST8SIA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003828	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IBA	molecular function
GO:0009311	oligosaccharide metabolic process	IBA	biological process
GO:0006486	protein glycosylation	IBA	biological process
GO:0006491	N-glycan processing	IBA	biological process
GO:0006491	N-glycan processing	IDA	biological process
GO:1990743	protein sialylation	IDA	biological process
GO:0008373	sialyltransferase activity	IDA	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0008373	sialyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006688	glycosphingolipid biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0003828	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IEA	molecular function
GO:0033691	sialic acid binding	IC	molecular function
GO:0003828	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IDA	molecular function
GO:0003828	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IDA	molecular function
GO:0001574	ganglioside biosynthetic process	IDA	biological process
GO:0006486	protein glycosylation	IDA	biological process
GO:0006491	N-glycan processing	IDA	biological process
GO:0009100	glycoprotein metabolic process	IDA	biological process
GO:0009100	glycoprotein metabolic process	IDA	biological process
GO:0009311	oligosaccharide metabolic process	IDA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray