• Gene id: 144423

Gene Summary

• Gene Symbol: GLT1D1   Gene   UCSC   Ensembl
• Gene name: glycosyltransferase 1 domain containing 1
• Alternate names: glycosyltransferase 1 domain-containing protein 1,
• Gene location: 12q24.33 (128853322: 128984967)     Exons: 6     NC_000012.12

Protein Summary

• Protein general information: Q96MS3  
  • Name: Glycosyltransferase 1 domain containing protein 1 (EC 2.4. . )
  • Length: 346  
  • Mass: 38507
• Sequence:

  MRLLFLAVLRPHTGNAVTAQRVRAHLEAAGHVCVLKDAFDFESRSEIANLILAENCEAALALHLYRGGRLLQGHR
  IPFGVIFGGTDVNEDANQAEKNTVMGRVLEEARFAVAFTESMKEMAQAQWPHAKGKVYVQSQGIATTPNAAFNWN
  TFLQRSEINQSADNLHIFLLICGLRQVKDPLYLVDAFSAWHQEEPNVHLVIVGPEVDPVFTREVKAKVKRAAGVR
  LIGEMPQEDLHAVVKNCFAVVNSSVSEGMSAAILEAMDLEVPVLARNIPGNAAVVKHEVTGLLFSNPQEFVHLAK
  RLVSDPALEKEIVVNGREYVRMYHSWQVERDTYQQLIRKLEGSTED

• Structural information:
  • Interpro: IPR001296  
  • STRING: ENSP00000281703
• Other Databases: GeneCards:  GLT1D1  Malacards:  GLT1D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016740	transferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray