• Gene id: 284004

Gene Summary

• Gene Symbol: HEXD   Gene   UCSC   Ensembl
• Aliases: HEXDC
• Gene name: hexosaminidase D
• Alternate names: hexosaminidase D, N-acetyl-beta-galactosaminidase, beta-N-acetylhexosaminidase, beta-hexosaminidase D, hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing, hexosaminidase D, cytosolic, hexosaminidase domain-containing protein,
• Gene location: 17q25.3 (109999168: 110039762)     Exons: 17     NC_000012.12
• OMIM: 616864

Protein Summary

• Protein general information: Q8WVB3  
  • Name: Hexosaminidase D (EC 3.2.1.52) (Beta N acetylhexosaminidase) (Beta hexosaminidase D) (Hexosaminidase domain containing protein) (N acetyl beta galactosaminidase)
  • Length: 486  
  • Mass: 53790
  • Tissue specificity: Expressed in synovial fibroblasts and synovial membranes. {ECO
• Sequence:

  MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRAKYAYSPSEIKEILHL
  AGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEAESLALVGAMIDQVLELHPGAQRLHIGCDEV
  YYLGEGEASRRWLQQEQNSTGKLCLSHMRAVASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDY
  TADLDVHGKVLLMQKYRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQR
  YDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPVREGAGSFPGSNILALVTQVSLH
  LRSSVDALLEGNRYVTGWFSPYHRQRKLIHPVMVQHIQPAALSLLAQWSTLVQELEAALQLAFYPDAVEEWLEEN
  VHPSLQRLQALLQDLSEVSAPPLPPTSPGRDVAQDP

• Structural information:
  • Interpro: IPR015883  IPR017853  IPR038901  
  • STRING: ENSP00000337854
• Other Databases: GeneCards:  HEXD  Malacards:  HEXD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903561	extracellular vesicle	IDA	cellular component
GO:0004563	beta-N-acetylhexosaminidase activity	IDA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	IDA	molecular function
GO:0015929	hexosaminidase activity	IDA	molecular function
GO:0015929	hexosaminidase activity	IDA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0015929	hexosaminidase activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0102148	N-acetyl-beta-D-galactosaminidase activity	IEA	molecular function
GO:0015929	hexosaminidase activity	IDA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00513	Various types of N-glycan biosynthesis
hsa00511	Other glycan degradation

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