• Gene id: 79712

Gene Summary

• Gene Symbol: GTDC1   Gene   UCSC   Ensembl
• Aliases: Hmat-Xa, mat-Xa
• Gene name: glycosyltransferase like domain containing 1
• Alternate names: glycosyltransferase-like domain-containing protein 1, glycosyltransferase-like 1, mannosyltransferase candidate, mannosyltransferase-like protein Xa,
• Gene location: 2q22.3 (101815990: 102283957)     Exons: 34     NC_000007.14
• OMIM: 610165

Protein Summary

• Protein general information: Q4AE62  
  • Name: Glycosyltransferase like domain containing protein 1 (Mannosyltransferase like protein Xa) (Mat Xa)
  • Length: 458  
  • Mass: 52597
  • Tissue specificity: Ubiquitous. Expressed at high levels in the lung, brain, spleen, testis, placenta. ovary, pancreas, spleen and peripheral blood leukocytes. Expressed at low level in the colon, small intestine, kidney, skeletal muscle and thymus. Expre
• Sequence:

  MSILIIEAFYGGSHKQLVDLLQEELGDCVVYTLPAKKWHWRARTSALYFSQTIPISEHYRTLFASSVLNLTELAA
  LRPDLGKLKKILYFHENQLIYPVKKCQERDFQYGYNQILSCLVADVVVFNSVFNMESFLTSMGKFMKLIPDHRPK
  DLESIIRPKCQVIYFPIRFPDVSRFMPKHKTTHLKKMLGLKGNGGAVLSMALPFQPEQRDSEDLLKNFNSECDTH
  CGLDTARQEYLGNSLRQESDLKKSTSSDNSSSHHGENKQNLTVDPCDILGGVDNQQRLLHIVWPHRWEHDKDPES
  FFKVLMHLKDLGLNFHVSVLGETFTDVPDIFSEAKKALGSSVLHWGYLPSKDDYFQVLCMADVVISTAKHEFFGV
  AMLEAVYCGCYPLCPKDLVYPEIFPAEYLYSTPEQLSKRLQNFCKRPDIIRKHLYKGEIAPFSWAALHGKFRSLL
  TTEPREDL

• Structural information:
  • Interpro: IPR001296  IPR022701  
  • STRING: ENSP00000376608
• Other Databases: GeneCards:  GTDC1  Malacards:  GTDC1

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq