Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	471
Gene name	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Gene symbol	ATIC
Synonyms (NCBI Gene)	AICARAICARFTHEL-S-70pIMPCHASEPURH
Chromosome	2
Chromosome location	2q35
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 cyclohyd

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4673993	T>A,C,G	Drug-response	Intron variant
rs121434478	A>G	Pathogenic	Coding sequence variant, missense variant
rs755898039	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1389373911	A>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant

Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038893	hsa-miR-93-3p	CLASH	23622248
MIRT035935	hsa-miR-1180-3p	CLASH	23622248
MIRT650595	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT650594	hsa-miR-9500	HITS-CLIP	23824327
MIRT650593	hsa-miR-4802-5p	HITS-CLIP	23824327
MIRT650592	hsa-miR-1323	HITS-CLIP	23824327
MIRT650591	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT650590	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT650589	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT650588	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT650587	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT650586	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT650585	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT650583	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT650584	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT650582	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT650581	hsa-miR-4263	HITS-CLIP	23824327
MIRT650580	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT450592	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT450591	hsa-miR-942-5p	PAR-CLIP	22100165
MIRT450590	hsa-miR-4645-3p	PAR-CLIP	22100165
MIRT450588	hsa-miR-3682-3p	PAR-CLIP	22100165
MIRT450589	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT450587	hsa-miR-6809-3p	PAR-CLIP	22100165
MIRT450586	hsa-miR-520d-3p	PAR-CLIP	22100165
MIRT650595	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT650594	hsa-miR-9500	HITS-CLIP	23824327
MIRT650593	hsa-miR-4802-5p	HITS-CLIP	23824327
MIRT650592	hsa-miR-1323	HITS-CLIP	23824327
MIRT650591	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT650590	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT650589	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT650588	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT650587	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT650586	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT650585	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT650583	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT650584	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT650582	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT650581	hsa-miR-4263	HITS-CLIP	23824327
MIRT650580	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT450592	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT450591	hsa-miR-942-5p	PAR-CLIP	22100165
MIRT450590	hsa-miR-4645-3p	PAR-CLIP	22100165
MIRT450588	hsa-miR-3682-3p	PAR-CLIP	22100165
MIRT450589	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT450587	hsa-miR-6809-3p	PAR-CLIP	22100165
MIRT450586	hsa-miR-520d-3p	PAR-CLIP	22100165
MIRT1937939	hsa-miR-134	CLIP-seq
MIRT1937940	hsa-miR-3118	CLIP-seq
MIRT1937941	hsa-miR-943	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003360	Process	Brainstem development	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003937	Function	IMP cyclohydrolase activity	IBA
GO:0003937	Function	IMP cyclohydrolase activity	IDA	26588576
GO:0003937	Function	IMP cyclohydrolase activity	IEA
GO:0003937	Function	IMP cyclohydrolase activity	TAS	8567683
GO:0004643	Function	Phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IBA
GO:0004643	Function	Phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IEA
GO:0004643	Function	Phosphoribosylaminoimidazolecarboxamide formyltransferase activity	TAS	8567683
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006139	Process	Nucleobase-containing compound metabolic process	TAS	8567683
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006177	Process	GMP biosynthetic process	IDA	26588576
GO:0006177	Process	GMP biosynthetic process	IEA
GO:0006189	Process	'de novo' IMP biosynthetic process	IBA
GO:0006189	Process	'de novo' IMP biosynthetic process	IDA	26588576
GO:0006189	Process	'de novo' IMP biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	14756553, 14966129
GO:0044208	Process	'de novo' AMP biosynthetic process	IDA	26588576
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046452	Process	Dihydrofolate metabolic process	IEA
GO:0046654	Process	Tetrahydrofolate biosynthetic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0097294	Process	'de novo' XMP biosynthetic process	IDA	26588576
GO:0097294	Process	'de novo' XMP biosynthetic process	IEA
GO:0098761	Process	Cellular response to interleukin-7	IEA

MIM	HGNC	e!Ensembl
601731	794	ENSG00000138363

P31939

Protein name

Bifunctional purine biosynthesis protein ATIC (AICAR transformylase/inosine monophosphate cyclohydrolase) (ATIC) [Cleaved into: Bifunctional purine biosynthesis protein ATIC, N-terminally processed] [Includes: Phosphoribosylaminoimidazolecarboxamide formy

Protein function

Bifunctional enzyme that catalyzes the last two steps of purine biosynthesis (PubMed:11948179, PubMed:14756554). Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-c

PDB

1P4R , 1PKX , 1PL0 , 5UY8 , 5UZ0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02142	MGS	16 → 130	MGS-like domain	Domain
PF01808	AICARFT_IMPCHas	135 → 461	AICARFT/IMPCHase bienzyme	Family

Tissue specificity

TISSUE SPECIFICITY: Present in the heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas. {ECO:0000269|PubMed:9378707}.

Sequence

MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEM
LGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEA
VEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFT
HTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINL
CDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPIS
AAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNG
NYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIV
ATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKT
GVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEKLTEVSISSDA
FFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH

Sequence length

592

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism One carbon pool by folate Metabolic pathways Antifolate resistance		Purine ribonucleoside monophosphate biosynthesis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AICA-ribosiduria	Pathogenic; Likely pathogenic	rs2105985030, rs1389373911, rs755898039	RCV000008254 RCV000824901 RCV000987028

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs112288749	RCV005927945
Adrenocortical carcinoma, hereditary	Benign	rs112288749	RCV005927949
ATIC-related disorder	Benign; Likely benign	rs149185538, rs138540592, rs537063971, rs149803312, rs201424787, rs145563811, rs140159793, rs114443266, rs2372536	RCV003901189 RCV003963984 RCV003976979 RCV003950626 RCV003923047 RCV003958062 RCV003970520 RCV003925957 RCV003972998
Cervical cancer	Benign	rs112288749, rs1803201, rs114443266	RCV005927950 RCV005902751 RCV005906629
Clear cell carcinoma of kidney	Benign	rs114443266	RCV005906630
Colon adenocarcinoma	Benign	rs112288749	RCV005927944
Colorectal cancer	Benign	rs112288749	RCV005927952
Familial cancer of breast	Benign; Likely benign	rs4672766, rs754454433	RCV005916230 RCV005926743
Familial prostate cancer	Uncertain significance	rs201074610	RCV005932246
Gastric cancer	Benign; Likely benign	rs112288749, rs754454433	RCV005927954 RCV005926744
Germ cell tumor of testis	Benign	rs112288749	RCV005927958
Hepatocellular carcinoma	Benign	rs112288749	RCV005927946
Intellectual disability	Benign; Likely benign	rs138988481	RCV001252418
Lung cancer	Benign	rs112288749	RCV005927959
Malignant lymphoma, large B-cell, diffuse	Benign	rs2372536	RCV005912143
Malignant tumor of esophagus	Benign	rs112288749	RCV005927947
Melanoma	Benign	rs112288749	RCV005927957
methotrexate response - Efficacy	drug response	rs4673993	RCV000211326
Nonpapillary renal cell carcinoma	Benign	rs112288749	RCV005927948
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs754454433, rs200798009	RCV005926745 RCV005934745
Sarcoma	Benign	rs112288749, rs114443266	RCV005927953 RCV005906631
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs2468995255, rs121434478	RCV004584565 RCV004584318
Thymoma	Benign	rs112288749	RCV005927955
Thyroid cancer, nonmedullary, 1	Benign	rs112288749, rs1803201	RCV005927956 RCV005902752
Uterine corpus endometrial carcinoma	Benign	rs112288749	RCV005927960
Uveal melanoma	Benign	rs112288749	RCV005927951

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	Associate	10702393
Arthritis Juvenile	Associate	25240429
Arthritis Rheumatoid	Associate	22450926, 24967362, 27770044, 33482886, 34902228, 35831345
Breast Neoplasms	Associate	22764122
Carcinoma Hepatocellular	Associate	29246230, 32807131, 33778066, 34803509, 35854246
Drug Related Side Effects and Adverse Reactions	Associate	30927276
Gomez Lopez Hernandez syndrome	Associate	17847007
Graves Ophthalmopathy	Associate	37884559
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35205374
Leukopenia	Associate	32372428
Lymphoma Large Cell Anaplastic	Associate	17464320, 19545284, 28659337
Lymphoproliferative Disorders	Associate	15114530
Meningioma	Associate	37515398
Meningomyelocele	Associate	39774454
Neoplasms	Associate	18845790, 22764122
Neutropenia	Associate	30927276
Purine Pyrimidine Metabolism Inborn Errors	Associate	15114530
Vascular Malformation Primary Intraosseous	Associate	27846861

ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)