• Gene id: 11227

Gene Summary

• Gene Symbol: GALNT5   Gene   UCSC   Ensembl
• Aliases: GALNAC-T5, GALNACT5
• Gene name: polypeptide N-acetylgalactosaminyltransferase 5
• Alternate names: polypeptide N-acetylgalactosaminyltransferase 5, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5), polypeptide GalNAc transferase 5, pp-GaNTase 5, protein,
• Gene location: 2q24.1 (157257655: 157318490)     Exons: 11     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-gala
• OMIM: 615129

Protein Summary

• Protein general information: Q7Z7M9  
  • Name: Polypeptide N acetylgalactosaminyltransferase 5 (EC 2.4.1.41) (Polypeptide GalNAc transferase 5) (GalNAc T5) (pp GaNTase 5) (Protein UDP acetylgalactosaminyltransferase 5) (UDP GalNAc:polypeptide N acetylgalactosaminyltransferase 5)
  • Length: 940  
  • Mass: 106266
• Sequence:

  MNRIRKFFRGSGRVLAFIFVASVIWLLFDMAALRLSFSEINTRVIKEDIVRRERIGFRVQPDQGKIFYSSIKEMK
  PPLRGHGKGAWGKENVRKTEESVLKVEVDLDQTQRERKMQNALGRGKVVPLWHPAHLQTLPVTPNKQKTDGRGTK
  PEASSHQGTPKQTTAQGAPKTSFIAAKGTQVVKISVHMGRVSLKQEPRKSHSPSSDTSKLAAERDLNVTISLSTD
  RPKQRSQAVANERAHPASTAVPKSGEAMALNKTKTQSKEVNANKHKANTSLPFPKFTVNSNRLRKQSINETPLGS
  LSKDDGARGAHGKKLNFSESHLVIITKEEEQKADPKEVSNSKTKTIFPKVLGKSQSKHISRNRSEMSSSSLAPHR
  VPLSQTNHALTGGLEPAKINITAKAPSTEYNQSHIKALLPEDSGTHQVLRIDVTLSPRDPKAPGQFGRPVVVPHG
  KEKEAERRWKEGNFNVYLSDLIPVDRAIEDTRPAGCAEQLVHNNLPTTSVIMCFVDEVWSTLLRSVHSVINRSPP
  HLIKEILLVDDFSTKDYLKDNLDKYMSQFPKVRILRLKERHGLIRARLAGAQNATGDVLTFLDSHVECNVGWLEP
  LLERVYLSRKKVACPVIEVINDKDMSYMTVDNFQRGIFVWPMNFGWRTIPPDVIAKNRIKETDTIRCPVMAGGLF
  SIDKSYFFELGTYDPGLDVWGGENMELSFKVWMCGGEIEIIPCSRVGHIFRNDNPYSFPKDRMKTVERNLVRVAE
  VWLDEYKELFYGHGDHLIDQGLDVGNLTQQRELRKKLKCKSFKWYLENVFPDLRAPIVRASGVLINVALGKCISI
  ENTTVILEDCDGSKELQQFNYTWLRLIKCGEWCIAPIPDKGAVRLHPCDNRNKGLKWLHKSTSVFHPELVNHIVF
  ENNQQLLCLEGNFSQKILKVAACDPVKPYQKWKFEKYYEA

• Structural information:
  • Protein Domains: (804..93-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • STRING: ENSP00000259056
• Other Databases: GeneCards:  GALNT5  Malacards:  GALNT5

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:0016020	membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
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:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0005575	cellular_component	ND	cellular component

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
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881