• Gene id: 146664

Gene Summary

• Gene Symbol: MGAT5B   Gene   UCSC   Ensembl
• Aliases: GnT-IX, GnT-VB
• Gene name: alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
• Alternate names: alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B, N-acetylglucosaminyl-transferase Vb, N-acetylglucosaminyltransferase IX, alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B, beta(1,6)-N-acetylglucosaminyltransferase V, glcNAc-T ,
• Gene location: 17q25.2 (76868403: 76950392)     Exons: 22     NC_000017.11
• Gene summary(Entrez): The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]
• OMIM: 612441

Protein Summary

• Protein general information: Q3V5L5  
  • Name: Alpha 1,6 mannosylglycoprotein 6 beta N acetylglucosaminyltransferase B (EC 2.4.1. ) (EC 2.4.1.155) (Alpha mannoside beta 1,6 N acetylglucosaminyltransferase B) (GlcNAc T Vb) (GNT Vb) (hGnTVb) (Mannoside acetylglucosaminyltransferase 5B) (N acetylglucosam
  • Length: 792  
  • Mass: 89535
  • Tissue specificity: Predominantly expressed in brain. Expressed in all area of the adult and fetal brain Also expressed at much lower level in testis, spleen and thymus. {ECO
• Sequence:

  MITVNPDGKIMVRRCLVTLRPFRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVMGGPESRGVLRKMS
  DLLELMVKRMDALARLENSSELHRAGGDLHFPADRMPPGAGLMERIQAIAQNVSDIAVKVDQILRHSLLLHSKVS
  EGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTAAQRAPKP
  LPKVQAVFRSNLSHLLDLMGSGKESLIFMKKRTKRLTAQWALAAQRLAQKLGATQRDQKQILVHIGFLTEESGDV
  FSPRVLKGGPLGEMVQWADILTALYVLGHGLRVTVSLKELQSNLGVPPGRGSCPLTMPLPFDLIYTDYHGLQQMK
  RHMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFPHTPDNSFMGFVSEELNETE
  KRLIKGGKASNMAVVYGKEASIWKLQGKEKFLGILNKYMEIHGTVYYESQRPPEVPAFVKNHGLLPQPEFQQLLR
  KAKLFIGFGFPYEGPAPLEAIANGCIFLQSRFSPPHSSLNHEFFRGKPTSREVFSQHPYAENFIGKPHVWTVDYN
  NSEEFEAAIKAIMRTQVDPYLPYEYTCEGMLERIHAYIQHQDFCRAPDPALPEAHAPQSPFVLAPNATHLEWARN
  TSLAPGAWPPAHALRAWLAVPGRACTDTCLDHGLICEPSFFPFLNSQDAFLKLQVPCDSTESEMNHLYPAFAQPG
  QECYLQKEPLLFSCAGSNTKYRRLCPCRDFRKGQVALCQGCL

• Structural information:
  • Interpro: IPR026116  
  • STRING: ENSP00000391227
• Other Databases: GeneCards:  MGAT5B  Malacards:  MGAT5B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0030144	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0030144	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0018242	protein O-linked glycosylation via serine	IDA	biological process
GO:0030144	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0006487	protein N-linked glycosylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030144	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030144	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006487	protein N-linked glycosylation	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq