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ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [ Homo sapiens (human) ]

Gene ID: 471, updated on 3-Nov-2024

Summary

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Official Symbol
ATICprovided by HGNC
Official Full Name
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolaseprovided by HGNC
Primary source
HGNC:HGNC:794
See related
Ensembl:ENSG00000138363 MIM:601731; AllianceGenome:HGNC:794
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PURH; AICAR; AICARFT; IMPCHASE; HEL-S-70p
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 19.1), placenta (RPKM 17.9) and 25 other tissues See more
Orthologs
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Genomic context

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See ATIC in Genome Data Viewer
Location:
2q35
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (215312059..215368592)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (215797091..215854273)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (216176782..216214487)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124907975 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:216176486-216177136 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256 Neighboring gene fibronectin 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:216255920-216257119 Neighboring gene Sharpr-MPRA regulatory region 14446 Neighboring gene Sharpr-MPRA regulatory region 10603 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216288045-216289244 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216298103-216299302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12300 Neighboring gene FN1 divergent transcript Neighboring gene uncharacterized LOC102724849

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case. Ramond F, et al. J Inherit Metab Dis, 2020 Nov. PMID 32557644
  2. Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays. Li R, et al. Int J Lab Hematol, 2021 Jun. PMID 33226193
  3. ATIC 347C>G gene polymorphism may be associated with methotrexate-induced adverse events in south Indian Tamil rheumatoid arthritis. Muralidharan N, et al. Pharmacogenomics, 2016 Feb. PMID 26799664
  4. Association of the ATIC 347 C/G polymorphism with responsiveness to and toxicity of methotrexate in rheumatoid arthritis: a meta-analysis. Lee YH, et al. Rheumatol Int, 2016 Nov. PMID 27379764
  5. ATIC Gene Polymorphism and Histologic Response to Chemotherapy in Pediatric Osteosarcoma. Park JA, et al. J Pediatr Hematol Oncol, 2017 Jul. PMID 28267080

See all (140) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA ZFAS1 regulates ATIC transcription and promotes the proliferation and migration of hepatocellular carcinoma through the PI3K/AKT signaling pathway.
    Title: LncRNA ZFAS1 regulates ATIC transcription and promotes the proliferation and migration of hepatocellular carcinoma through the PI3K/AKT signaling pathway.
  2. A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis.
    Title: A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis.
  3. Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.
    Title: Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.
  4. CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF.
    Title: CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF.
  5. Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.
    Title: Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.
  6. Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.
    Title: Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.
  7. AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
    Title: AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
  8. Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays.
    Title: Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays.
  9. Identification and Validation of a Prognostic Model Based on Three Autophagy-Related Genes in Hepatocellular Carcinoma.
    Title: Identification and Validation of a Prognostic Model Based on Three Autophagy-Related Genes in Hepatocellular Carcinoma.
  10. ATIC acts as an oncogenic gene that promotes survival, proliferation and migration by targeting AMPK-mTOR-S6 K1 signaling
    Title: Bifunctional enzyme ATIC promotes propagation of hepatocellular carcinoma by regulating AMPK-mTOR-S6 K1 signaling.
Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
AICA-ribosiduria
MedGen: C1837530 OMIM: 608688 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ93545

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables IMP cyclohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables IMP cyclohydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cadherin binding HDA PubMed 
enables phosphoribosylaminoimidazolecarboxamide formyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 'de novo' AMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 'de novo' IMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in 'de novo' IMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 'de novo' IMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in 'de novo' XMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in GMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in animal organ regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in brainstem development IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to interleukin-7 IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebral cortex development IEA
Inferred from Electronic Annotation
more info
  
involved_in dihydrofolate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in tetrahydrofolate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
bifunctional purine biosynthesis protein ATIC
Names
5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase
AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme
AICAR transformylase/inosine monophosphate cyclohydrolase
AICARFT/IMPCHASE
bifunctional purine biosynthesis protein PURH
epididymis secretory sperm binding protein Li 70p
phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
NP_004035.2
XP_016859676.1
XP_047300445.1
XP_047300446.1
XP_047300447.1
XP_054198230.1
XP_054198231.1
XP_054198232.1
XP_054198233.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013002.1 RefSeqGene

    Range
    5104..42809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004044.7 → NP_004035.2  bifunctional purine biosynthesis protein ATIC

    See identical proteins and their annotated locations for NP_004035.2

    Status: REVIEWED

    Source sequence(s)
    AA494525, BC008879, DA074758
    Consensus CDS
    CCDS2398.1
    UniProtKB/Swiss-Prot
    A8K202, E9PBU3, P31939, Q13856, Q53S28
    UniProtKB/TrEMBL
    B2R7P8, V9HWH7
    Related
    ENSP00000236959.9, ENST00000236959.14
    Conserved Domains (2) summary
    PRK07106
    Location:203 → 592
    PRK07106; phosphoribosylaminoimidazolecarboxamide formyltransferase
    cd01421
    Location:5 → 193
    IMPCH; Inosine monophosphate cyclohydrolase domain. This is the N-terminal domain in the purine biosynthesis pathway protein ATIC (purH). The bifunctional ATIC protein contains a C-terminal ATIC formylase domain that formylates ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    215312059..215368592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444489.1 → XP_047300445.1  bifunctional purine biosynthesis protein ATIC isoform X1

  2. XM_047444490.1 → XP_047300446.1  bifunctional purine biosynthesis protein ATIC isoform X2

  3. XM_017004187.3 → XP_016859676.1  bifunctional purine biosynthesis protein ATIC isoform X3

    UniProtKB/TrEMBL
    B2R7P8

  4. XM_047444491.1 → XP_047300447.1  bifunctional purine biosynthesis protein ATIC isoform X4

RNA

  1. XR_007075419.1 RNA Sequence

  2. XR_007075418.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    215797091..215854273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342256.1 → XP_054198231.1  bifunctional purine biosynthesis protein ATIC isoform X2

  2. XM_054342255.1 → XP_054198230.1  bifunctional purine biosynthesis protein ATIC isoform X1

  3. XM_054342257.1 → XP_054198232.1  bifunctional purine biosynthesis protein ATIC isoform X3

  4. XM_054342258.1 → XP_054198233.1  bifunctional purine biosynthesis protein ATIC isoform X4

RNA

  1. XR_008486374.1 RNA Sequence

  2. XR_008486375.1 RNA Sequence

  3. XR_008486376.1 RNA Sequence

  4. XR_008486373.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31939.3 GenPept UniProtKB/Swiss-Prot:P31939

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