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

    Gene ID: 471, updated on 27-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
    mouse all
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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
    • 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
    		not available

    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

    Gene LinkOut

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