• Gene id: 56913

Gene Summary

• Gene Symbol: C1GALT1   Gene   UCSC   Ensembl
• Aliases: C1GALT, T-synthase
• Gene name: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
• Alternate names: glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1, B3Gal-T8, core 1 O-glycan T-synthase, core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1, core 1 beta3-Gal-T1, epididymis secretory sperm binding protein,
• Gene location: 7p22.1-p21.3 (7182543: 7248615)     Exons: 12     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glyco
• OMIM: 610555

Protein Summary

• Protein general information: Q9NS00  
  • Name: Glycoprotein N acetylgalactosamine 3 beta galactosyltransferase 1 (EC 2.4.1.122) (B3Gal T8) (Core 1 O glycan T synthase) (Core 1 UDP galactose:N acetylgalactosamine alpha R beta 1,3 galactosyltransferase 1) (Beta 1,3 galactosyltransferase) (Core 1 beta1,3
  • Length: 363  
  • Mass: 42203
  • Tissue specificity: Widely expressed. Highly expressed in kidney, heart, placenta and liver. {ECO
• Sequence:

  MASKSWLNFLTFLCGSAIGFLLCSQLFSILLGEKVDTQPNVLHNDPHARHSDDNGQNHLEGQMNFNADSSQHKDE
  NTDIAENLYQKVRILCWVMTGPQNLEKKAKHVKATWAQRCNKVLFMSSEENKDFPAVGLKTKEGRDQLYWKTIKA
  FQYVHEHYLEDADWFLKADDDTYVILDNLRWLLSKYDPEEPIYFGRRFKPYVKQGYMSGGAGYVLSKEALKRFVD
  AFKTDKCTHSSSIEDLALGRCMEIMNVEAGDSRDTIGKETFHPFVPEHHLIKGYLPRTFWYWNYNYYPPVEGPGC
  CSDLAVSFHYVDSTTMYELEYLVYHLRPYGYLYRYQPTLPERILKEISQANKNEDTKVKLGNP

• Structural information:
  • Interpro: IPR026842  IPR003378  
  • STRING: ENSP00000389176
• Other Databases: GeneCards:  C1GALT1  Malacards:  C1GALT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016267	O-glycan processing, core 1	IBA	biological process
GO:0016263	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IBA	molecular function
GO:0016263	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IEA	molecular function
GO:0016266	O-glycan processing	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016263	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0006493	protein O-linked glycosylation	IEA	biological process
GO:0060576	intestinal epithelial cell development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0016263	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0001822	kidney development	IMP	biological process
GO:0001525	angiogenesis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00514	Other types of O-glycan biosynthesis
hsa00512	Mucin type O-glycan biosynthesis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray