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

Gene ID: 471, updated on 18-Nov-2018

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; Vega:OTTHUMG00000133023
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

Genomic context

See ATIC in Genome Data Viewer
Location:
2q35
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (215311956..215359745)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (216176679..216214496)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928103 Neighboring gene ribosomal protein L10 pseudogene 6 Neighboring gene ATP binding cassette subfamily A member 12 Neighboring gene uncharacterized LOC112268430 Neighboring gene uncharacterized LOC105373868 Neighboring gene fibronectin 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
'de novo' IMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
brainstem development IEA
Inferred from Electronic Annotation
more info
 
cellular response to interleukin-7 IEA
Inferred from Electronic Annotation
more info
 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
dihydrofolate metabolic process IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
nucleoside metabolic process IEA
Inferred from Electronic Annotation
more info
 
purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
 
response to inorganic substance IEA
Inferred from Electronic Annotation
more info
 
tetrahydrofolate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
bifunctional purine biosynthesis protein PURH
Names
5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase
AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme
AICARFT/IMPCHASE
epididymis secretory sperm binding protein Li 70p
phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
NP_004035.2
XP_016859676.1
XP_024308687.1

NCBI Reference Sequences (RefSeq)

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
    5001..42818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004044.6NP_004035.2  bifunctional purine biosynthesis protein PURH

    See identical proteins and their annotated locations for NP_004035.2

    Status: REVIEWED

    Source sequence(s)
    AA494525, BC008879, DA043224, DA074758
    Consensus CDS
    CCDS2398.1
    UniProtKB/Swiss-Prot
    P31939
    UniProtKB/TrEMBL
    V9HWH7
    Related
    ENSP00000236959.9, OTTHUMP00000163981, ENST00000236959.13, OTTHUMT00000256610
    Conserved Domains (2) summary
    PRK07106
    Location:203592
    PRK07106; 5-aminoimidazole-4-carboxamide ribonucleotide transformylase; Provisional
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    215311956..215359745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004187.2XP_016859676.1  bifunctional purine biosynthesis protein PURH isoform X1

  2. XM_024452919.1XP_024308687.1  bifunctional purine biosynthesis protein PURH isoform X2

    Related
    ENSP00000415935.1, ENST00000435675.5
    Conserved Domains (2) summary
    PRK07106
    Location:144533
    PRK07106; 5-aminoimidazole-4-carboxamide ribonucleotide transformylase; Provisional
    cd01421
    Location:1134
    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 ...
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