• Gene id: 51809

Gene Summary

• Gene Symbol: GALNT7   Gene   UCSC   Ensembl
• Aliases: GALNAC-T7, GalNAcT7
• Gene name: polypeptide N-acetylgalactosaminyltransferase 7
• Alternate names: N-acetylgalactosaminyltransferase 7, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7), polypeptide GalNAc transferase 7, pp-GaNTase 7, protein-UDP acetylg,
• Gene location: 4q34.1 (173168810: 173323966)     Exons: 17     NC_000004.12
• Gene summary(Entrez): This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amin
• OMIM: 613389

Protein Summary

• Protein general information: Q86SF2  
  • Name: N acetylgalactosaminyltransferase 7 (EC 2.4.1.41) (Polypeptide GalNAc transferase 7) (GalNAc T7) (pp GaNTase 7) (Protein UDP acetylgalactosaminyltransferase 7) (UDP GalNAc:polypeptide N acetylgalactosaminyltransferase 7)
  • Length: 657  
  • Mass: 75389
  • Tissue specificity: Widely expressed. Expressed in uterus, retina, kidney, small intestine, omentum, stomach and CNS. {ECO
• Sequence:

  MRLKIGFILRSLLVVGSFLGLVVLWSSLTPRPDDPSPLSRMREDRDVNDPMPNRGGNGLAPGEDRFKPVVPWPHV
  EGVEVDLESIRRINKAKNEQEHHAGGDSQKDIMQRQYLTFKPQTFTYHDPVLRPGILGNFEPKEPEPPGVVGGPG
  EKAKPLVLGPEFKQAIQASIKEFGFNMVASDMISLDRSVNDLRQEECKYWHYDENLLTSSVVIVFHNEGWSTLMR
  TVHSVIKRTPRKYLAEIVLIDDFSNKEHLKEKLDEYIKLWNGLVKVFRNERREGLIQARSIGAQKAKLGQVLIYL
  DAHCEVAVNWYAPLVAPISKDRTICTVPLIDVINGNTYEIIPQGGGDEDGYARGAWDWSMLWKRVPLTPQEKRLR
  KTKTEPYRSPAMAGGLFAIEREFFFELGLYDPGLQIWGGENFEISYKIWQCGGKLLFVPCSRVGHIYRLEGWQGN
  PPPIYVGSSPTLKNYVRVVEVWWDEYKDYFYASRPESQALPYGDISELKKFREDHNCKSFKWFMEEIAYDITSHY
  PLPPKNVDWGEIRGFETAYCIDSMGKTNGGFVELGPCHRMGGNQLFRINEANQLMQYDQCLTKGADGSKVMITHC
  NLNEFKEWQYFKNLHRFTHIPSGKCLDRSEVLHQVFISNCDSSKTTQKWEMNNIHSV

• Structural information:
  • Protein Domains: (532..65-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • PDB: 6IWQ 6IWR
  • PDBsum: 6IWQ 6IWR
  • STRING: ENSP00000265000
• Other Databases: GeneCards:  GALNT7  Malacards:  GALNT7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0005975	carbohydrate metabolic process	TAS	biological process
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:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	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
Cryptorchidism	MIK: 28606200

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