• Gene id: 442117

Gene Summary

• Gene Symbol: GALNTL6   Gene   UCSC   Ensembl
• Aliases: GALNACT20, GALNT17, GalNAc-T6L
• Gene name: polypeptide N-acetylgalactosaminyltransferase like 6
• Alternate names: polypeptide N-acetylgalactosaminyltransferase-like 6, GaNTase 17, GalNAc transferase 17, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20, UDP-N-acetyl-alpha-D-gala,
• Gene location: 4q34.1 (171812655: 173041558)     Exons: 21     NC_000004.12
• OMIM: 611611

Protein Summary

• Protein general information: Q49A17  
  • Name: Polypeptide N acetylgalactosaminyltransferase like 6 (EC 2.4.1.41) (Polypeptide GalNAc transferase 17) (GalNAc T17) (pp GaNTase 17) (Protein UDP acetylgalactosaminyltransferase 17) (Putative polypeptide N acetylgalactosaminyltransferase 17) (UDP GalNAc:po
  • Length: 601  
  • Mass: 69788
• Sequence:

  MKRKQKRFLQMTLLFTVALIFLPNVGLWSLYKDKHLVKSAEPGEQQTFPLGLGDGQFYSWTDGLRRKDWHDYESI
  QKEAMRSGKGEHGKPYPLTEEDHDDSAYRENGFNIFVSNNIALERSLPDIRHANCKHKMYLERLPNTSIIIPFHN
  EGWTSLLRTIHSIINRTPGSLIAEIILVDDFSEREHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARG
  EVLTFLDSHCEVNVNWLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQR
  ADPSDPFESPVMAGGLFAVDRKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKV
  PSGTSLARNLKRVAETWMDEFAEYIYQRRPEYRHLSTGDISAQKELRKQLKCKDFKWFMAAVAWDVPKYYPPVEP
  PPAAWGEIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHN
  SPVTLYDCHGMKGNQLWGYRKDRTLFHPVSNSCMDCNPAEKKIFMARCDPLSETQQWIFEHINMTVLEKFNHHAN
  S

• Structural information:
  • Protein Domains: (453..58-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • STRING: ENSP00000423313
• Other Databases: GeneCards:  GALNTL6  Malacards:  GALNTL6

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:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0018243	protein O-linked glycosylation via threonine	IDA	biological process
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function

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
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray