• Gene id: 10606

Gene Summary

• Gene Symbol: PAICS   Gene   UCSC   Ensembl
• Aliases: ADE2, ADE2H1, AIRC, PAIS
• Gene name: phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
• Alternate names: multifunctional protein ADE2, AIR carboxylase, SAICAR synthetase, multifunctional protein ADE2H1, phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase, phosphoribosylaminoimidazole carboxylase; phosphoribosylamin,
• Gene location: 4q12 (56435748: 56464577)     Exons: 11     NC_000004.12
• Gene summary(Entrez): This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine bio
• OMIM: 172439

Protein Summary

• Protein general information: P22234  
  • Name: Multifunctional protein ADE2 [Includes: Phosphoribosylaminoimidazole succinocarboxamide synthase (EC 6.3.2.6) (SAICAR synthetase); Phosphoribosylaminoimidazole carboxylase (EC 4.1.1.21) (AIR carboxylase) (AIRC)]
  • Length: 425  
  • Mass: 47079
• Sequence:

  MATAEVLNIGKKLYEGKTKEVYELLDSPGKVLLQSKDQITAGNAARKNHLEGKAAISNKITSCIFQLLQEAGIKT
  AFTRKCGETAFIAPQCEMIPIEWVCRRIATGSFLKRNPGVKEGYKFYPPKVELFFKDDANNDPQWSEEQLIAAKF
  CFAGLLIGQTEVDIMSHATQAIFEILEKSWLPQNCTLVDMKIEFGVDVTTKEIVLADVIDNDSWRLWPSGDRSQQ
  KDKQSYRDLKEVTPEGLQMVKKNFEWVAERVELLLKSESQCRVVVLMGSTSDLGHCEKIKKACGNFGIPCELRVT
  SAHKGPDETLRIKAEYEGDGIPTVFVAVAGRSNGLGPVMSGNTAYPVISCPPLTPDWGVQDVWSSLRLPSGLGCS
  TVLSPEGSAQFAAQIFGLSNHLVWSKLRASILNTWISLKQADKKIRECNL

• Structural information:
  • Interpro: IPR033626  IPR000031  IPR035893  IPR028923  IPR018236  
  • Prosite: PS01057 PS01058
  • PDB: 2H31
  • PDBsum: 2H31
  • STRING: ENSP00000382595
• Other Databases: GeneCards:  PAICS  Malacards:  PAICS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004639	phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0004639	phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	TAS	molecular function
GO:0009113	purine nucleobase biosynthetic process	TAS	biological process
GO:0004638	phosphoribosylaminoimidazole carboxylase activity	IEA	molecular function
GO:0043727	5-amino-4-imidazole carboxylate lyase activity	IEA	molecular function
GO:0004639	phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Schizophrenia	PMID:19850283
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)