• Gene id: 80162

Gene Summary

• Gene Symbol: PGGHG   Gene   UCSC   Ensembl
• Aliases: ATHL1
• Gene name: protein-glucosylgalactosylhydroxylysine glucosidase
• Alternate names: protein-glucosylgalactosylhydroxylysine glucosidase, ATH1, acid trehalase-like 1, acid trehalase-like protein 1, testicular tissue protein Li 25,
• Gene location: 11p15.5 (287759: 296106)     Exons: 18     NC_000011.10
• OMIM: 617032

Protein Summary

• Protein general information: Q32M88  
  • Name: Protein glucosylgalactosylhydroxylysine glucosidase (EC 3.2.1.107) (Acid trehalase like protein 1)
  • Length: 737  
  • Mass: 80655
• Sequence:

  MEDAGEDPTTFAAHSLPSDPRLLATVTNAYLGTRVFHDTLHVSGVYNGAGGDTHRAMLPSPLNVRLEAPAGMGEQ
  LTETFALDTNTGSFLHTLEGPRFRASQCIYAHRTLPHVLAFRVSIARLAPGSGPITLLLRSAFSPESPDLDLHQG
  PDFQGARYLYGHTLTPEQPGGPQQEVHMLWTPAPPDLTLGEGEEARTWDFLTAVGGSQAEAQACLTEALQLQARG
  ALYTAHAQAWAQLWVECGLDVVGPLQLRQALRGSLYYLLSALPQPKAPGYICHGLSPGGLSNGSREECYWGHVFW
  DQDLWMFPSILMFHPEAARAILEYRIRTLDGALENAQNLGYQGAKFAWESADSGLEVCPEDIYGVQEVHVNGAVV
  LAFELYYHTTQDLQLFREAGGWDVVRAVAEFWCSRVEWSPREEKYHLRGVMSPDEYHSGVNNSVYTNVLVQNSLR
  FAAALAQDLGLPIPSQWLAVADKIKVPFDVEQNFHPEFDGYEPGEVVKQADVVLLGYPVPFSLSPDVRRKNLEIY
  EAVTSPQGPAMTWSMFAVGWMELKDAVRARGLLDRSFANMAEPFKVWTENADGSGAVNFLTGMGGFLQAVVFGCT
  GFRVTRAGVTFDPVCLSGISRVSVSGIFYQGNKLNFSFSEDSVTVEVTARAGPWAPHLEAELWPSQSRLSLLPGH
  KVSFPRSAGRIQMSPPKLPGSSSSEFPGRTFSDVRDPLQSPLWVTLGSSSPTESLTVDPASE

• Structural information:
  • Interpro: IPR008928  IPR012341  IPR005195  
  • STRING: ENSP00000387185
• Other Databases: GeneCards:  PGGHG  Malacards:  PGGHG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047402	protein-glucosylgalactosylhydroxylysine glucosidase activity	IBA	molecular function
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IBA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0047402	protein-glucosylgalactosylhydroxylysine glucosidase activity	IEA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0047402	protein-glucosylgalactosylhydroxylysine glucosidase activity	IDA	molecular function
GO:0005975	carbohydrate metabolic process	IDA	biological process

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq