• Gene id: 138050

Gene Summary

• Gene Symbol: HGSNAT   Gene   UCSC   Ensembl
• Aliases: HGNAT, MPS3C, RP73, TMEM76
• Gene name: heparan-alpha-glucosaminide N-acetyltransferase
• Alternate names: heparan-alpha-glucosaminide N-acetyltransferase, transmembrane protein 76,
• Gene location: 8p11.21-p11.1 (43140448: 43202854)     Exons: 20     NC_000008.11
• Gene summary(Entrez): This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopoly
• OMIM: 610453

Protein Summary

• Protein general information: Q68CP4  
  • Name: Heparan alpha glucosaminide N acetyltransferase (EC 2.3.1.78) (Transmembrane protein 76)
  • Length: 663  
  • Mass: 73293
  • Tissue specificity: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver. {ECO
• Sequence:

  MTGARASAAEQRRAGRSGQARAAERAAGMSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHA
  ELKMDQALLLIHNELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEKEV
  CRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVISFLRLLLSLDDFNNWIS
  KAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRLRSVDTFRGIALILMVFVNYGGGKYWYFKHASW
  NGLTVADLVFPWFVFIMGSSIFLSMTSILQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPG
  VLQRLGVTYFVVAVLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYLGP
  GGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYK
  ARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSLSYVTTLSSFAFFILLVLYPVVDVKGLWTGTPF
  FYPGMNSILVYVGHEVFENYFPFQWKLKDNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI

• Structural information:
  • Interpro: IPR012429  IPR040208  
  • STRING: ENSP00000368965
• Other Databases: GeneCards:  HGSNAT  Malacards:  HGSNAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0007041	lysosomal transport	IBA	biological process
GO:0051259	protein complex oligomerization	IDA	biological process
GO:0016746	transferase activity, transferring acyl groups	IDA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0007041	lysosomal transport	IDA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0015019	heparan-alpha-glucosaminide N-acetyltransferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015019	heparan-alpha-glucosaminide N-acetyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00531	Glycosaminoglycan degradation

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type III	KEGG:H00130
Retinitis pigmentosa	KEGG:H00527
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type III	KEGG:H00130
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R