• Gene id: 146712

Gene Summary

• Gene Symbol: B3GNTL1   Gene   UCSC   Ensembl
• Aliases: 3-Gn-T8, B3GNT8, BGnT-8, beta-1, beta3Gn-T8, beta3GnTL1
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1
• Alternate names: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1, BGnT-like protein 1, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8, beta-1,3-Gn-T8, beta-1,3-N-acetylglucosaminyltransferase 8, beta1,3-N-acetylglucosaminyltransferase-,
• Gene location: 17q25.3 (83051844: 82942148)     Exons: 23     NC_000017.11
• OMIM: 615337

Protein Summary

• Protein general information: Q67FW5  
  • Name: UDP GlcNAc:betaGal beta 1,3 N acetylglucosaminyltransferase like protein 1 (BGnT like protein 1) (Beta1,3 N acetylglucosaminyltransferase like protein 1) (Beta3Gn T like protein 1) (Beta3GnTL1) (EC 2.4.1. ) (Beta 1,3 N acetylglucosaminyltransferase 8) (BG
  • Length: 361  
  • Mass: 40713
  • Tissue specificity: Widely expressed. Highly expressed in adult pancreas. Expressed at moderate level in kidney, spleen, thymus, prostate, testis and ovary. Weakly expressed in small intestine, colon, peripheral blood leukocyte and liver. {ECO
• Sequence:

  MSGAGVGGASEESQAMQAHVSIILPVHNAEPWLDECLRSVLQQDFEGTMELSVFNDASKDKSGAIIEKWRVKLED
  SGVHVIIGGHDSPSPRGVGYAKNQAVAQSSGSYLCFLDSDDVMMPQRVRLQHEAAVQHPSSIIGCRVRRDPPNST
  ERYTRWINQLTPEQLLTQVFTSNGPTVIMPTWFCSRAWFSHVGPFNEGGQGVPEDLLFFYEHLRKGGGVIRVDQS
  LLLYRHHPQAATHCVLETTIWTHRVRFLEEQALPRWAAFTIWNAGKQGRRLYRSLTAGSQRKVVAFCDVDENKIR
  KGFYCHEDSQERPKPRIPILHFRAARPPFVICVKLDLTGGAFEDNLRSLHLQEGQDFLHFS

• Structural information:
  • Interpro: IPR001173  IPR029044  
  • STRING: ENSP00000319979
• Other Databases: GeneCards:  B3GNTL1  Malacards:  B3GNTL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function

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)
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
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