help  | about  | cite  | software

Gene : ATIC Homo sapiens

Name  ? 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Cytological Location  2q35
Brief Description  5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
description  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 cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
  • synonyms:
  • AICARFT,
  • uc002vex.5,
  • HEL-S-70p,
  • AICAR,
  • OTTHUMG00000133023,
  • AICARFT,
  • PURH,
  • phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase,
  • PURH,
  • HGNC:794,
  • ATIC,
  • NM_004044,
  • IMPCHASE,
  • IMPCHASE
  • identifiers:
  • 471,
  • ENSG00000138363,
  • ATIC

Genome feature

Region: gene ? Length: 47790  
Location: 2:215311956-215359745 Cyto location: 2q35


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results