• Gene id: 471

Gene Summary

• Gene Symbol: ATIC   Gene   UCSC   Ensembl
• Aliases: AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH
• Gene name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
• Alternate names: bifunctional purine biosynthesis protein PURH, 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase, AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme, AICARFT/IMPCHASE, epididymis secretory sperm binding protein Li 7,
• Gene location: 2q35 (215311973: 215359744)     Exons: 17     NC_000002.12
• Gene summary(Entrez): This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohyd
• OMIM: 601731

Protein Summary

• Protein general information: P31939  
  • Name: Bifunctional purine biosynthesis protein PURH [Cleaved into: Bifunctional purine biosynthesis protein PURH, N terminally processed] [Includes: Phosphoribosylaminoimidazolecarboxamide formyltransferase (EC 2.1.2.3) (5 aminoimidazole 4 carboxamide ribonucle
  • Length: 592  
  • Mass: 64616
• Sequence:

  MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEMLGGRVKTLHPAVHAG
  ILARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEAVEQIDIGGVTLLRAAAKNHARVTVVCEPED
  YVVVSTEMQSSESKDTSLETRRQLALKAFTHTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPK
  LPITVLNGAPGFINLCDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPIS
  AAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNGNYCVLQMDQSYKPDE
  NEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYAKNGQVIGIGAGQQS
  RIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKK
  EWVEKLTEVSISSDAFFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH

• Structural information:
  • Protein Domains: (1..14-)
    (/note="MGS-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01202"-)
  • Interpro: IPR024051  IPR024050  IPR016193  IPR011607  IPR036914   IPR002695  
  • Prosite: PS51855
  • PDB: 1P4R 1PKX 1PL0 5UY8 5UZ0
  • PDBsum: 1P4R 1PKX 1PL0 5UY8 5UZ0
  • STRING: ENSP00000236959
• Other Databases: GeneCards:  ATIC  Malacards:  ATIC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006189	'de novo' IMP biosynthetic process	IBA	biological process
GO:0003937	IMP cyclohydrolase activity	IBA	molecular function
GO:0004643	phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0003937	IMP cyclohydrolase activity	IEA	molecular function
GO:0004643	phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0003937	IMP cyclohydrolase activity	TAS	molecular function
GO:0004643	phosphoribosylaminoimidazolecarboxamide formyltransferase activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0004643	phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IEA	molecular function
GO:0003937	IMP cyclohydrolase 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:0046654	tetrahydrofolate biosynthetic process	IEA	biological process
GO:0046452	dihydrofolate metabolic process	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0004643	phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IEA	molecular function
GO:0003937	IMP cyclohydrolase activity	IEA	molecular function
GO:0031100	animal organ regeneration	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0010035	response to inorganic substance	IEA	biological process
GO:0009259	ribonucleotide metabolic process	IEA	biological process
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0003360	brainstem development	IEA	biological process
GO:0098761	cellular response to interleukin-7	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa01523	Antifolate resistance
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
AICA-ribosiduria	KEGG:H00966
AICA-ribosiduria	KEGG:H00966
Purine-pyrimidine metabolic disorder	PMID:15114530
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881