Human Gene ATIC (ENST00000236959.14_4) from GENCODE V47lift37

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Description: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (from RefSeq NM_004044.7)
Gencode Transcript: ENST00000236959.14_4
Gencode Gene: ENSG00000138363.15_9
Transcript (Including UTRs)
Position: hg19 chr2:216,176,782-216,214,487 Size: 37,706 Total Exon Count: 16 Strand: +
Coding Region
Position: hg19 chr2:216,176,866-216,214,378 Size: 37,513 Coding Exon Count: 16

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Other Species	mRNA Descriptions	Pathways
Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr2:216,176,782-216,214,487)			mRNA (may differ from genome)		Protein (592 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: ATIC Diseases sorted by gene-association score: aica-ribosiduria due to atic deficiency* (1550), mental retardation epilepsy (18) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin C016403 2,4-dinitrotoluene C023514 2,6-dinitrotoluene C058706 2-desamino-2-methylaminopterin C035207 4-amino-2,6-dinitrotoluene D000082 Acetaminophen D000643 Ammonium Chloride D019256 Cadmium Chloride D002251 Carbon Tetrachloride D002995 Clofibric Acid more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 63.64 RPKM in Cells - EBV-transformed lymphocytes Total median expression: 899.10 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-21.70	84	-0.258	Picture	PostScript	Text
3' UTR	-19.00	109	-0.174	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	No ortholog
Gene Details	Gene Details		Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter
	RGD			WormBase
				Protein Sequence
				Alignment

Descriptions from all associated GenBank mRNAs


	EU794654 - Homo sapiens epididymis secretory sperm binding protein Li 70p (HEL-S-70p) mRNA, complete cds. AK313066 - Homo sapiens cDNA, FLJ93545, highly similar to Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA. D82348 - Homo sapiens mRNA for 5-aminoimidazole-4-carboxamide-1-beta-D-ribon ucleotide transformylase/inosinicase, complete cds. AK298142 - Homo sapiens cDNA FLJ57133 complete cds, highly similar to Bifunctional purine biosynthesis protein PURH. D89976 - Homo sapiens mRNA for 5-aminoimidazole-4-carboxamide ribonucleotide transformylase, complete cds. AB062403 - Homo sapiens OK/SW-cl.86 mRNA for 5-aminoimidazole-4-carboxamide-1-bata-D-ribon ucleotid transformylase/inosinicase, complete cds. BC008879 - Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase, mRNA (cDNA clone MGC:15334 IMAGE:4300570), complete cds. AB590190 - Synthetic construct DNA, clone: pFN21AE1522, Homo sapiens ATIC gene for 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase, without stop codon, in Flexi system. DQ893262 - Synthetic construct clone IMAGE:100005892; FLH195721.01X; RZPDo839F07152D 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) gene, encodes complete protein. DQ896591 - Synthetic construct Homo sapiens clone IMAGE:100011051; FLH195717.01L; RZPDo839F07151D 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) gene, encodes complete protein. CU679167 - Synthetic construct Homo sapiens gateway clone IMAGE:100023307 5' read ATIC mRNA. KJ890724 - Synthetic construct Homo sapiens clone ccsbBroadEn_00118 ATIC gene, encodes complete protein. KR710127 - Synthetic construct Homo sapiens clone CCSBHm_00009968 ATIC (ATIC) mRNA, encodes complete protein. AK290067 - Homo sapiens cDNA FLJ75424 complete cds, highly similar to Human AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme (purH) mRNA. U37436 - Human AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme (purH) mRNA, complete cds. DQ575774 - Homo sapiens piRNA piR-43886, complete sequence. JD022070 - Sequence 3094 from Patent EP1572962.

Biochemical and Signaling Pathways


	BioCyc Knowledge Library PWY-6124 - inosine-5'-phosphate biosynthesis PWY-841 - purine nucleotides de novo biosynthesis

Other Names for This Gene


	Alternate Gene Symbols: ENST00000236959.1, ENST00000236959.10, ENST00000236959.11, ENST00000236959.12, ENST00000236959.13, ENST00000236959.2, ENST00000236959.3, ENST00000236959.4, ENST00000236959.5, ENST00000236959.6, ENST00000236959.7, ENST00000236959.8, ENST00000236959.9, HEL-S-70p , NM_004044, uc317ebs.1, uc317ebs.2, V9HWH7, V9HWH7_HUMAN UCSC ID: ENST00000236959.14_4 RefSeq Accession: NM_004044.7

Gene Model Information


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Methods, Credits, and Use Restrictions


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