• Gene id: 26290

Gene Summary

• Gene Symbol: GALNT8   Gene   UCSC   Ensembl
• Aliases: GALNAC-T8
• Gene name: polypeptide N-acetylgalactosaminyltransferase 8
• Alternate names: probable polypeptide N-acetylgalactosaminyltransferase 8, GalNAc transferase 8, UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8), polypeptide GalNAc tra,
• Gene location: 12p13.32 (4720399: 4772725)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalN
• OMIM: 131340

Protein Summary

• Protein general information: Q9NY28  
  • Name: Probable polypeptide N acetylgalactosaminyltransferase 8 (EC 2.4.1.41) (Polypeptide GalNAc transferase 8) (GalNAc T8) (pp GaNTase 8) (Protein UDP acetylgalactosaminyltransferase 8) (UDP GalNAc:polypeptide N acetylgalactosaminyltransferase 8)
  • Length: 637  
  • Mass: 72851
  • Tissue specificity: Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte. {ECO
• Sequence:

  MMFWRKLPKALFIGLTLAIAVNLLLVFSSKGTLQNLFTGGLHRELPLHLNKRYGAVIKRLSHLEVELQDLKESMK
  LALRQQENVNSTLKRAKDEVRPLLKAMETKVNETKKHKTQMKLFPHSQLFRQWGEDLSEAQQKAAQDLFRKFGYN
  AYLSNQLPLNRTIPDTRDYRCLRKTYPSQLPSLSVILIFVNEALSIIQRAITSIINRTPSRLLKEIILVDDFSSN
  GELKVHLDEKIKLYNQKYPGLLKIIRHPERKGLAQARNTGWEAATADVVAILDAHIEVNVGWAEPILARIQEDRT
  VIVSPVFDNIRFDTFKLDKYELAVDGFNWELWCRYDALPQAWIDLHDVTAPVKSPSIMGILAANRHFLGEIGSLD
  GGMLIYGGENVELSLRVWQCGGKVEILPCSRIAHLERHHKPYALDLTAALKRNALRVAEIWMDEHKHMVYLAWNI
  PLQNSGIDFGDVSSRMALREKLKCKTFDWYLKNVYPLLKPLHTIVGYGRMKNLLDENVCLDQGPVPGNTPIMYYC
  HEFSSQNVYYHLTGELYVGQLIAEASASDRCLTDPGKAEKPTLEPCSKAAKNRLHIYWDFKPGGAVINRDTKRCL
  EMKKDLLGSHVLVLQTCSTQVWEIQHTVRDWGQTNSQ

• Structural information:
  • Protein Domains: (496..63-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • STRING: ENSP00000252318
• Other Databases: GeneCards:  GALNT8  Malacards:  GALNT8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq