• Gene id: 64409

Gene Summary

• Gene Symbol: GALNT17   Gene   UCSC   Ensembl
• Aliases: GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T17, GalNAc-T19, GalNAc-T5L, WBSCR17
• Gene name: polypeptide N-acetylgalactosaminyltransferase 17
• Alternate names: polypeptide N-acetylgalactosaminyltransferase 17, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminylt,
• Gene location: 7q11.22 (71132143: 71713598)     Exons: 14     NC_000007.14
• Gene summary(Entrez): This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This prote
• OMIM: 611089

Protein Summary

• Protein general information: Q6IS24  
  • Name: Polypeptide N acetylgalactosaminyltransferase 17 (EC 2.4.1.41) (Polypeptide GalNAc transferase like protein 3) (GalNAc T like protein 3) (pp GaNTase like protein 3) (Protein UDP acetylgalactosaminyltransferase like protein 3) (UDP GalNAc:polypeptide N ace
  • Length: 598  
  • Mass: 67751
  • Tissue specificity: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen. {ECO
• Sequence:

  MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRPRAEVANLSAHSASPIQDAVLKRLSLLEDIVY
  RQLNGLSKSLGLIEGYGGRGKGGLPATLSPAEEEKAKGPHEKYGYNSYLSEKISLDRSIPDYRPTKCKELKYSKD
  LPQISIIFIFVNEALSVILRSVHSAVNHTPTHLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVVRNQKREG
  LIRARIEGWKVATGQVTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSIDNIKQDNFEVQRYENSAHGYSWELW
  CMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNRKFFGEIGLLDPGMDVYGGENIELGIKVWLCGGSMEVLPCSR
  VAHIERKKKPYNSNIGFYTKRNALRVAEVWMDDYKSHVYIAWNLPLENPGIDIGDVSERRALRKSLKCKNFQWYL
  DHVYPEMRRYNNTVAYGELRNNKAKDVCLDQGPLENHTAILYPCHGWGPQLARYTKEGFLHLGALGTTTLLPDTR
  CLVDNSKSRLPQLLDCDKVKSSLYKRWNFIQNGAIMNKGTGRCLEVENRGLAGIDLILRSCTGQRWTIKNSIK

• Structural information:
  • Protein Domains: (465..59-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • STRING: ENSP00000329654
• Other Databases: GeneCards:  GALNT17  Malacards:  GALNT17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030246	carbohydrate binding	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

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
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
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