• Gene id: 84572

Gene Summary

• Gene Symbol: GNPTG   Gene   UCSC   Ensembl
• Aliases: C16orf27, GNPTAG, LP2537, RJD9
• Gene name: N-acetylglucosamine-1-phosphate transferase subunit gamma
• Alternate names: N-acetylglucosamine-1-phosphotransferase subunit gamma, N-acetylglucosamine-1-phosphate transferase gamma subunit, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, glcNAc-1-phosphotransferase subunit gamma,
• Gene location: 16p13.3 (1351930: 1364112)     Exons: 12     NC_000016.10
• Gene summary(Entrez): This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker.
• OMIM: 609577

Protein Summary

• Protein general information: Q9UJJ9  
  • Name: N acetylglucosamine 1 phosphotransferase subunit gamma (GlcNAc 1 phosphotransferase subunit gamma) (UDP N acetylglucosamine 1 phosphotransferase subunit gamma)
  • Length: 305  
  • Mass: 33974
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLV
  ESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAH
  VSEPSTCVYALTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEEN
  EPTQLEGGPDSLGFETLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPG
  LRGSL

• Structural information:
  • Protein Domains: (69..12-)
    (/note="PRKCSH-)
    (176..27-)
    (/note="DMAP1-binding-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01260"-)
  • Interpro: IPR010506  IPR039792  IPR039794  IPR009011  IPR036607  
  • Prosite: PS51912
  • STRING: ENSP00000204679
• Other Databases: GeneCards:  GNPTG  Malacards:  GNPTG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0046835	carbohydrate phosphorylation	IDA	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003976	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Mucolipidosis III	KEGG:H02130
Mucolipidosis III	KEGG:H02130
Glycoproteinosis	PMID:10712439
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq