• Gene id: 114805

Gene Summary

• Gene Symbol: GALNT13   Gene   UCSC   Ensembl
• Aliases: GalNAc-T13
• Gene name: polypeptide N-acetylgalactosaminyltransferase 13
• Alternate names: polypeptide N-acetylgalactosaminyltransferase 13, GalNAc transferase 13, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13), polypeptide GalNAc transfer,
• Gene location: 2q23.3-q24.1 (153871921: 154454176)     Exons: 18     NC_000002.12
• Gene summary(Entrez): The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-ace
• OMIM: 608369

Protein Summary

• Protein general information: Q8IUC8  
  • Name: Polypeptide N acetylgalactosaminyltransferase 13 (EC 2.4.1.41) (Polypeptide GalNAc transferase 13) (GalNAc T13) (pp GaNTase 13) (Protein UDP acetylgalactosaminyltransferase 13) (UDP GalNAc:polypeptide N acetylgalactosaminyltransferase 13)
  • Length: 556  
  • Mass: 64051
  • Tissue specificity: Specifically expressed in neuronal cells. Expressed in fetal brain, whole adult brain, cerebral cortex and cerebellum. Not expressed in other tissues tested. {ECO
• Sequence:

  MRRFVYCKVVLATSLMWVLVDVFLLLYFSECNKCDDKKERSLLPALRAVISRNQEGPGEMGKAVLIPKDDQEKMK
  ELFKINQFNLMASDLIALNRSLPDVRLEGCKTKVYPDELPNTSVVIVFHNEAWSTLLRTVYSVINRSPHYLLSEV
  ILVDDASERDFLKLTLENYVKNLEVPVKIIRMEERSGLIRARLRGAAASKGQVITFLDAHCECTLGWLEPLLARI
  KEDRKTVVCPIIDVISDDTFEYMAGSDMTYGGFNWKLNFRWYPVPQREMDRRKGDRTLPVRTPTMAGGLFSIDRN
  YFEEIGTYDAGMDIWGGENLEMSFRIWQCGGSLEIVTCSHVGHVFRKATPYTFPGGTGHVINKNNRRLAEVWMDE
  FKDFFYIISPGVVKVDYGDVSVRKTLRENLKCKPFSWYLENIYPDSQIPRRYYSLGEIRNVETNQCLDNMGRKEN
  EKVGIFNCHGMGGNQVFSYTADKEIRTDDLCLDVSRLNGPVIMLKCHHMRGNQLWEYDAERLTLRHVNSNQCLDE
  PSEEDKMVPTMQDCSGSRSQQWLLRNMTLGT

• Structural information:
  • Protein Domains: (428..55-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • STRING: ENSP00000376570
• Other Databases: GeneCards:  GALNT13  Malacards:  GALNT13

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:0016020	membrane	IEA	cellular component
GO:0030246	carbohydrate binding	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:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0006493	protein O-linked glycosylation	IEA	biological process
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:0018242	protein O-linked glycosylation via serine	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
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R