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

Gene ID: 471, updated on 4-Jan-2025

Summary

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

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ93545

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytosol  
located_in cytosol  
located_in cytosol  
located_in extracellular exosome PubMed 
located_in membrane PubMed 
located_in plasma membrane  

General protein information

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_004044.7NP_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:203592
    PRK07106; phosphoribosylaminoimidazolecarboxamide formyltransferase
    cd01421
    Location:5193
    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_047444489.1XP_047300445.1  bifunctional purine biosynthesis protein ATIC isoform X1

    UniProtKB/TrEMBL
    B2R7P8
  2. XM_047444490.1XP_047300446.1  bifunctional purine biosynthesis protein ATIC isoform X2

    UniProtKB/TrEMBL
    B2R7P8
  3. XM_017004187.3XP_016859676.1  bifunctional purine biosynthesis protein ATIC isoform X3

    UniProtKB/TrEMBL
    B2R7P8
  4. XM_047444491.1XP_047300447.1  bifunctional purine biosynthesis protein ATIC isoform X4

    UniProtKB/TrEMBL
    B4DP06

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_054342256.1XP_054198231.1  bifunctional purine biosynthesis protein ATIC isoform X2

    UniProtKB/TrEMBL
    B2R7P8
  2. XM_054342255.1XP_054198230.1  bifunctional purine biosynthesis protein ATIC isoform X1

    UniProtKB/TrEMBL
    B2R7P8
  3. XM_054342257.1XP_054198232.1  bifunctional purine biosynthesis protein ATIC isoform X3

    UniProtKB/TrEMBL
    B2R7P8
  4. XM_054342258.1XP_054198233.1  bifunctional purine biosynthesis protein ATIC isoform X4

    UniProtKB/TrEMBL
    B4DP06

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

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