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

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: mouse all
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Genomic context

Location:: 2q35

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (215312059..215368592)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (215797091..215854273)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (216176782..216214487)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
The AICARFT site is capable of independently binding both nucleotide and folate substrates with high affinity however no evidence for positive cooperativity in binding could be detected using the model ligands employed in this study.
Title: Analysis of substrate binding in individual active sites of bifunctional human ATIC.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-10220 (e-PCR)
- UniSTS:29238

RH11837 (e-PCR)
- UniSTS:4204

SGC31824 (e-PCR)
- UniSTS:1735

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 more info	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 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
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	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

EC 2.1.2.3

EC 3.5.4.10

XP_016859676.1

EC 2.1.2.3

EC 3.5.4.10

XP_047300445.1

EC 2.1.2.3

EC 3.5.4.10

XP_047300446.1

EC 2.1.2.3

EC 3.5.4.10

XP_047300447.1

EC 2.1.2.3

EC 3.5.4.10

XP_054198230.1

EC 2.1.2.3

EC 3.5.4.10

XP_054198231.1

EC 2.1.2.3

EC 3.5.4.10

XP_054198232.1

EC 2.1.2.3

EC 3.5.4.10

XP_054198233.1

EC 2.1.2.3

EC 3.5.4.10

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

NG_013002.1 RefSeqGene

Range

5104..42809

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

215312059..215368592

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444489.1 → XP_047300445.1 bifunctional purine biosynthesis protein ATIC isoform X1
XM_047444490.1 → XP_047300446.1 bifunctional purine biosynthesis protein ATIC isoform X2
XM_017004187.3 → XP_016859676.1 bifunctional purine biosynthesis protein ATIC isoform X3

UniProtKB/TrEMBL

B2R7P8
XM_047444491.1 → XP_047300447.1 bifunctional purine biosynthesis protein ATIC isoform X4

RNA

XR_007075419.1 RNA Sequence
XR_007075418.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

215797091..215854273

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342256.1 → XP_054198231.1 bifunctional purine biosynthesis protein ATIC isoform X2
XM_054342255.1 → XP_054198230.1 bifunctional purine biosynthesis protein ATIC isoform X1
XM_054342257.1 → XP_054198232.1 bifunctional purine biosynthesis protein ATIC isoform X3
XM_054342258.1 → XP_054198233.1 bifunctional purine biosynthesis protein ATIC isoform X4