• Gene id: 283358

Gene Summary

• Gene Symbol: B4GALNT3   Gene   UCSC   Ensembl
• Gene name: beta-1,4-N-acetyl-galactosaminyltransferase 3
• Alternate names: beta-1,4-N-acetylgalactosaminyltransferase 3, B4GalNAcT3, Beta4GalNAc-T3, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2, NGalNAc-T2, beta-1,4,
• Gene location: 12p13.33 (459938: 563508)     Exons: 20     NC_000012.12
• Gene summary(Entrez): B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 200
• OMIM: 613639

Protein Summary

• Protein general information: Q6L9W6  
  • Name: Beta 1,4 N acetylgalactosaminyltransferase 3 (B4GalNAcT3) (Beta4GalNAc T3) (Beta4GalNAcT3) (EC 2.4.1.244) (Beta 1,4 N acetylgalactosaminyltransferase III) (N acetyl beta glucosaminyl glycoprotein 4 beta N acetylgalactosaminyltransferase 2) (NGalNAc T2)
  • Length: 998  
  • Mass: 114975
  • Tissue specificity: Highly expressed in testis, colon and stomach. Weakly expressed in other tissues. {ECO
• Sequence:

  MGSPRAARPPLLLRPVKLLRRRFRLLLALAVVSVGLWTLYLELVASAQVGGNPLNRRYGSWRELAKALASRNIPA
  VDPHLQFYHPQRLSLEDHDIDQGVSSNSSYLKWNKPVPWLSEFRGRANLHVFEDWCGSSIQQLRRNLHFPLYPHI
  RTTLRKLAVSPKWTNYGLRIFGYLHPFTDGKIQFAIAADDNAEFWLSLDDQVSGLQLLASVGKTGKEWTAPGEFG
  KFRSQISKPVSLSASHRYYFEVLHKQNEEGTDHVEVAWRRNDPGAKFTIIDSLSLSLFTNETFLQMDEVGHIPQT
  AASHVDSSNALPRDEQPPADMLRPDPRDTLYRVPLIPKSHLRHVLPDCPYKPSYLVDGLPLQRYQGLRFVHLSFV
  YPNDYTRLSHMETHNKCFYQENAYYQDRFSFQEYIKIDQPEKQGLEQPGFEENLLEESQYGEVAEETPASNNQNA
  RMLEGRQTPASTLEQDATDYRLRSLRKLLAQPREGLLAPFSKRNSTASFPGRTSHIPVQQPEKRKQKPSPEPSQD
  SPHSDKWPPGHPVKNLPQMRGPRPRPAGDSPRKTQWLNQVESYIAEQRRGDRMRPQAPGRGWHGEEEVVAAAGQE
  GQVEGEEEGEEEEEEEDMSEVFEYVPVFDPVVNWDQTFSARNLDFQALRTDWIDLSCNTSGNLLLPEQEALEVTR
  VFLKKLNQRSRGRYQLQRIVNVEKRQDQLRGGRYLLELELLEQGQRVVRLSEYVSARGWQGIDPAGGEEVEARNL
  QGLVWDPHNRRRQVLNTRAQEPKLCWPQGFSWSHRAVVHFVVPVKNQARWVQQFIKDMENLFQVTGDPHFNIVIT
  DYSSEDMDVEMALKRSKLRSYQYVKLSGNFERSAGLQAGIDLVKDPHSIIFLCDLHIHFPAGVIDAIRKHCVEGK
  MAFAPMVMRLHCGATPQWPEGYWEVNGFGLLGIYKSDLDRIGGMNTKEFRDRWGGEDWELLDRILQAGLDVERLS
  LRNFFHHFHSKRGMWSRRQMKTL

• Structural information:
  • Protein Domains: (117..27-)
    (/note="PA14-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01164"-)
  • Interpro: IPR008428  IPR029044  IPR037524  IPR011658  
  • Prosite: PS51820
  • STRING: ENSP00000266383
• Other Databases: GeneCards:  B4GALNT3  Malacards:  B4GALNT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0033842	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00513	Various types of N-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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq