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

Gene ID: 471, updated on 13-May-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (215312059..215368592)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (215797091..215834793)
105.20220307 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 fibronectin 1 Neighboring gene Sharpr-MPRA regulatory region 14446 Neighboring gene Sharpr-MPRA regulatory region 10603

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ93545

Gene Ontology Provided by GOA

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
PubMed 
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 nucleoside metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in response to inorganic substance IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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

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

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
    P31939
    UniProtKB/TrEMBL
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

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

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

  4. XM_047444491.1XP_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..215834793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)