• Gene id: 6675

Gene Summary

• Gene Symbol: UAP1   Gene   UCSC   Ensembl
• Aliases: AGX, AGX1, AGX2, SPAG2
• Gene name: UDP-N-acetylglucosamine pyrophosphorylase 1
• Alternate names: UDP-N-acetylhexosamine pyrophosphorylase, UDP-N-acetylglucosamine diphosphorylase 1, UDP-N-acetylhexosamine pyrophosphorylase 1, antigen X, sperm associated antigen 2, testis tissue sperm-binding protein Li 37a,
• Gene location: 1q23.3 (162561439: 162599842)     Exons: 13     NC_000001.11
• OMIM: 602862

Protein Summary

• Protein general information: Q16222  
  • Name: UDP N acetylhexosamine pyrophosphorylase (Antigen X) (AGX) (Sperm associated antigen 2) [Includes: UDP N acetylgalactosamine pyrophosphorylase (EC 2.7.7.83) (AGX 1); UDP N acetylglucosamine pyrophosphorylase (EC 2.7.7.23) (AGX 2)]
  • Length: 522  
  • Mass: 58,769
• Sequence:

  MNINDLKLTLSKAGQEHLLRFWNELEEAQQVELYAELQAMNFEELNFFFQKAIEGFNQSSHQKNVDARMEPVPRE
  VLGSATRDQDQLQAWESEGLFQISQNKVAVLLLAGGQGTRLGVAYPKGMYDVGLPSRKTLFQIQAERILKLQQVA
  EKYYGNKCIIPWYIMTSGRTMESTKEFFTKHKYFGLKKENVIFFQQGMLPAMSFDGKIILEEKNKVSMAPDGNGG
  LYRALAAQNIVEDMEQRGIWSIHVYCVDNILVKVADPRFIGFCIQKGADCGAKVVEKTNPTEPVGVVCRVDGVYQ
  VVEYSEISLATAQKRSSDGRLLFNAGNIANHFFTVPFLRDVVNVYEPQLQHHVAQKKIPYVDTQGQLIKPDKPNG
  IKMEKFVFDIFQFAKKFVVYEVLREDEFSPLKNADSQNGKDNPTTARHALMSLHHCWVLNAGGHFIDENGSRLPA
  IPRSATNGKSETITADVNHNLKDANDVPIQCEISPLISYAGEGLESYVADKEFHAPLIIDENGVHELVKNGI

• Structural information:
  • Interpro: IPR029044  IPR002618  
  • PDB: 1JV1 1JV3 1JVD 1JVG
  • PDBsum: 1JV1 1JV3 1JVD 1JVG
  • STRING: ENSP00000356903
• Other Databases: GeneCards:  UAP1  Malacards:  UAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IEA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	IEA	molecular function
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	IEA	molecular function
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	TAS	molecular function
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006047	UDP-N-acetylglucosamine metabolic process	IEA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IEA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0070569	uridylyltransferase activity	IEA	molecular function
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	TAS	molecular function
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Sperm motility	MIK: 9621304
Male factor infertility	MIK: 9621304
Flagellar abnormalities	MIK: 9621304
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Sperm motility defects	MIK: 9621304
Male infertility	MIK: 9621304
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9621304	Sperm motility, flagellar abnormalities, male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881